Localized lipid formations within an organ system are known as xanthomas. While being naturally benign, they are frequently a significant outward indicator of systemic illnesses. The first descriptions of these lesions and information on their connections to lipid metabolism appeared in the early 1900s. The importance of xanthomas as a clinical entity crosses many fields, including general pediatrics, medicine, dermatology, & surgery.
In the most recent literature, their pathophysiology & management have attracted much attention. Although they can affect nearly all anatomical areas & organ systems of the human body, they frequently favor the skin & subcutaneous layer. The underlining systemic sickness that is the cause of these lesions’ presence is intimately related to their natural patterns & history of dissemination.
Xanthomas can develop at any age, however, they often first show up in patients with underlying systemic diseases, including familial hypercholesterolemia, in their second decade. In over 75% of elderly people with familial hypercholesterolemia, a tendinous xanthoma has been identified.
Around 6% of the 5504 benign cutaneous malignancies of the eyelids evaluated in a Swiss ophthalmology department in large retrospective research were xanthelasmas. The prevalence of these lesions is inextricably related to the prevalence of these disorders since xanthomas are frequently linked to a variety of systemic disorders.
The metabolic degradation of lipoproteins causes the pathophysiology of xanthomas. VLDL (Very-low-density lipoprotein) in adipose and muscle tissue must be broken down by the enzyme LPL (lipoprotein lipase) in order to release triglycerides and create IDL (intermediate-density lipoprotein), which is composed of the apoproteins B-100 and E.
IDL can either be transformed into apoprotein B-100 or resorbed into the liver through the LDL (low-density lipoprotein) receptors. This summary is not intended to classify the different hypercholesterolemia based on these findings, but distinct xanthoma mostly associates with diverse hypercholesterolemia subtypes.
Xanthomas do not always form in people with hypercholesterolemia or hyperlipidemia. The existence of xanthomatous lesions, however, can act as a special and significant clinical signal of these metabolic conditions. Circulation lipoproteins in patients with hyperlipidemia pass through vascular endothelial cells & deposit in the epidermis, subcutaneous layer, & tendons. The tissue macrophages’ process of phagocytosis then aids in the removal of the membrane lipids of these deposits from those locations.
The xanthomas’ distinctive “foam cells” are said to have developed as a result of this mechanism. It is hypothesized that a different series of events leads to normocholesterolemic xanthomatosis, with localized tissue injury (caused by inflammation or trauma) likely to be a key factor. They are the characteristic “eruptive xanthomas” connected to hypercholesterolemia of types I, IV, & V.
It is predicted that the enhanced vascular permeability brought on by the injury condition will follow a similar common pathway of leaky lipids that are then phagocytosed by epidermal cells. The genesis of lesions in regions that frequently experience mechanical trauma, such as xanthomas of the Achilles tendon, which are frequently observed in people with type II hypercholesterolemia, has been postulated to be related to this pathway. Moreover, paraproteinemias, including those with normal plasma lipid levels, are infrequently linked to xanthomatous lesions.
The cutaneous growth of lymphoreticular tissue in these patients is hypothesized to represent the flat, generally clustered lesions that later take on xanthomatous features. In the context of increased cerebraltendinous xanthomatosis, blood cholesterol provides yet another distinct normolipidemic clinical entity in which xanthomas are discovered in the brain & various extremities tendons. This lipid abnormality is an autosomal recessive condition caused by a hereditary CYP27A1 mutation.
Many variables affect the overall clinical results in xanthoma patients. The underlying condition must be treated effectively first and foremost. Several of the underlying systemic disorders in these patients, like homozygous familial hypocholesterolemia, may have early & high fatality rates. Others may be treated with systemic medications and lifestyle changes, which can significantly increase overall survival.
With adequate systemic care, the majority of smaller xanthoma tumors may either shrink in size or even disappear entirely in terms of localized disease. Recurrence after excision for localized lesions that are symptomatic because of their anatomic placement or size or can be reduced with good surgical planning. An elevated recurrence incidence in these diseases has been linked to partial debulking or resection.
Clinical history
Typically, patients may see specialists due to clinically evident lesions, and after additional testing they will learn they have metabolic disorders. Patients with cutaneous xanthomas may also have a family background of the condition, a background of aortic regurgitation, myocardial infarction, atherosclerosis, or either pancreatitis. Drug-induced tuberous & tendinous xanthomas as well as normolipemic variants of tuberous xanthomas are rare but possible. Rarely, mastocytoma, non-Langerhans cell disease, chronic myelomonocytic leukaemia, & exposure to ultraviolet radiation may be linked to massive solitary planar xanthoma.
Occasionally, xanthomas may be linked to nonsyndromic paucity of interlobular biliary tract, systemic sarcoidosis, and the POEMS (polyneuropathy, organomegaly, endocrinopathy, skin changes) syndrome. Prior to a main or secondary hyperlipidemia diagnosis, cutaneous symptoms may also be present. Whenever pruritus is identified in children as a symptom, medical professionals should look into the likelihood of liver cholestasis.
Depending on the site affected, patients with xanthoma disseminatum may exhibit symptoms of dyspnea, dysphagia, & obstruction blindness. Rarely, the gastric system, the central nervous system, the musculoskeletal system, and the intracranial region may all be affected. The Koebner phenomenon-related types and those that are multisystemic but asymptomatic are examples of exceptional situations. The illness might be chronic and advancing or it might be self-limited and spontaneously resolve.
Hematological malignancies, monoclonal gammopathies, & lymphoproliferative diseases are the most frequent causes of diffuse plane xanthomatosis. Although uncommon, Xanthoma disseminatum even without underlying pathology is possible. Rarely, it may be connected to Hand-Schüller-Christian illness, rheumatoid arthritis, Budd-Chiari syndrome, or mycosis fungoides.
Physical examination
Clinically speaking, planar xanthomas, xanthelasma palpebrarum, tendinous xanthomas, tuberous xanthomas, eruptive xanthomas, planar xanthomas, and widespread plane xanthomas can all be classified as cutaneous xanthomas linked with hyperlipidemia. It is possible to mix various sorts together. It’s also possible to see a rare “cauliflower xanthoma” type. Cerebrotendinous xanthomatosis may also be suggested by the presence of cutaneous xanthomas.
The most typical variety of xanthoma is Xanthelasma palpebrarum. The lesions are symmetrical, soft, velvety, golden, flat papules with no symptoms. The inner canthus of the upper eyelids is where they most frequently develop. Massive involvement of all four eyelids may be seen in giant xanthelasma palpebrarum. Firm, painless, reddish-yellow nodules called tuberous xanthomas. The lesions can spread and combine to become multilobulated tumours.
The extensor regions of the knees, elbows, & buttocks are common places for tuberous xanthomas to form. On the cheekbones & nasal bridge, they could sporadically appear. Tendinous xanthomas are subcutaneous nodules that are connected to tendons or ligaments that steadily enlarge. Lesions that resemble atypical gout tophi can develop over the great toe. The extensor tendons of the hands, foot, & Achilles tendons are where they are most frequently found. Trauma is frequently a factor in the lesions.
The lesions of eruptive xanthomas often manifest over the course of several weeks as crops of tiny, reddish-yellow nodules on an erythematous basis. The lesions may be painful, and pruritus is frequently present. The extensor surfaces of the limbs, the shoulders, as well as the buttocks are the areas where eruptive xanthomas most frequently develop. Rarely, the face or oral mucosa may be impacted. There is information on the Koebner phenomena. Although spontaneous remission is possible, recurrence is typical.
Mainly yellowish macules, thin patches are less common in plane xanthoma. They can happen anywhere. Type III dysbetalipoproteinemia is characterised by inclusion of the palmar creases. Yellow, symmetrical plaque lesions cover the periorbital regions, buttocks, neck, upper torso, or flexures in those with diffuse plane xanthomatosis. Oral lesions can appear in unusual forms. Particular xanthoma types that are present in patients with normolipemic conditions include verruciform xanthoma & xanthoma disseminatum. Adult cases of Xanthoma disseminatum typically manifest as red-yellow papules & nodules with a preference for the flexures.
Moreover, lesions can affect the face, proximal extremities, trunk, and, infrequently, the entire eyelid. Rarely, it may manifest as sizable plaques with indurated borders and plaques with encircling papules. Involvement of the mucosa occurs 40% to 60% of the time. Adults typically develop verruciform xanthoma in the gingiva as a solitary, asymptomatic yellow papillomatous lesion. Although cases of extra-oral presentation are uncommon, they have been documented with localization at the oesophagus, anogenital region, forearm, sole, and digits of the foot and hand. A verruciform xanthoma covering the ventral portion of the tongue was also noted in 2021.
Differential diagnosis
There have been a few isolated reports of xanthomas caused by atypical sterol accumulation in the literature. They include beta-sitosterolemia and the previously noted cerebrotendinous xanthomatosis (cholestanol buildup). Moreover, the frequency of atherosclerotic load is higher in these patients, necessitating cautious therapy of both systemic and local illnesses.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
Localized lipid formations within an organ system are known as xanthomas. While being naturally benign, they are frequently a significant outward indicator of systemic illnesses. The first descriptions of these lesions and information on their connections to lipid metabolism appeared in the early 1900s. The importance of xanthomas as a clinical entity crosses many fields, including general pediatrics, medicine, dermatology, & surgery.
In the most recent literature, their pathophysiology & management have attracted much attention. Although they can affect nearly all anatomical areas & organ systems of the human body, they frequently favor the skin & subcutaneous layer. The underlining systemic sickness that is the cause of these lesions’ presence is intimately related to their natural patterns & history of dissemination.
Xanthomas can develop at any age, however, they often first show up in patients with underlying systemic diseases, including familial hypercholesterolemia, in their second decade. In over 75% of elderly people with familial hypercholesterolemia, a tendinous xanthoma has been identified.
Around 6% of the 5504 benign cutaneous malignancies of the eyelids evaluated in a Swiss ophthalmology department in large retrospective research were xanthelasmas. The prevalence of these lesions is inextricably related to the prevalence of these disorders since xanthomas are frequently linked to a variety of systemic disorders.
The metabolic degradation of lipoproteins causes the pathophysiology of xanthomas. VLDL (Very-low-density lipoprotein) in adipose and muscle tissue must be broken down by the enzyme LPL (lipoprotein lipase) in order to release triglycerides and create IDL (intermediate-density lipoprotein), which is composed of the apoproteins B-100 and E.
IDL can either be transformed into apoprotein B-100 or resorbed into the liver through the LDL (low-density lipoprotein) receptors. This summary is not intended to classify the different hypercholesterolemia based on these findings, but distinct xanthoma mostly associates with diverse hypercholesterolemia subtypes.
Xanthomas do not always form in people with hypercholesterolemia or hyperlipidemia. The existence of xanthomatous lesions, however, can act as a special and significant clinical signal of these metabolic conditions. Circulation lipoproteins in patients with hyperlipidemia pass through vascular endothelial cells & deposit in the epidermis, subcutaneous layer, & tendons. The tissue macrophages’ process of phagocytosis then aids in the removal of the membrane lipids of these deposits from those locations.
The xanthomas’ distinctive “foam cells” are said to have developed as a result of this mechanism. It is hypothesized that a different series of events leads to normocholesterolemic xanthomatosis, with localized tissue injury (caused by inflammation or trauma) likely to be a key factor. They are the characteristic “eruptive xanthomas” connected to hypercholesterolemia of types I, IV, & V.
It is predicted that the enhanced vascular permeability brought on by the injury condition will follow a similar common pathway of leaky lipids that are then phagocytosed by epidermal cells. The genesis of lesions in regions that frequently experience mechanical trauma, such as xanthomas of the Achilles tendon, which are frequently observed in people with type II hypercholesterolemia, has been postulated to be related to this pathway. Moreover, paraproteinemias, including those with normal plasma lipid levels, are infrequently linked to xanthomatous lesions.
The cutaneous growth of lymphoreticular tissue in these patients is hypothesized to represent the flat, generally clustered lesions that later take on xanthomatous features. In the context of increased cerebraltendinous xanthomatosis, blood cholesterol provides yet another distinct normolipidemic clinical entity in which xanthomas are discovered in the brain & various extremities tendons. This lipid abnormality is an autosomal recessive condition caused by a hereditary CYP27A1 mutation.
Many variables affect the overall clinical results in xanthoma patients. The underlying condition must be treated effectively first and foremost. Several of the underlying systemic disorders in these patients, like homozygous familial hypocholesterolemia, may have early & high fatality rates. Others may be treated with systemic medications and lifestyle changes, which can significantly increase overall survival.
With adequate systemic care, the majority of smaller xanthoma tumors may either shrink in size or even disappear entirely in terms of localized disease. Recurrence after excision for localized lesions that are symptomatic because of their anatomic placement or size or can be reduced with good surgical planning. An elevated recurrence incidence in these diseases has been linked to partial debulking or resection.
Clinical history
Typically, patients may see specialists due to clinically evident lesions, and after additional testing they will learn they have metabolic disorders. Patients with cutaneous xanthomas may also have a family background of the condition, a background of aortic regurgitation, myocardial infarction, atherosclerosis, or either pancreatitis. Drug-induced tuberous & tendinous xanthomas as well as normolipemic variants of tuberous xanthomas are rare but possible. Rarely, mastocytoma, non-Langerhans cell disease, chronic myelomonocytic leukaemia, & exposure to ultraviolet radiation may be linked to massive solitary planar xanthoma.
Occasionally, xanthomas may be linked to nonsyndromic paucity of interlobular biliary tract, systemic sarcoidosis, and the POEMS (polyneuropathy, organomegaly, endocrinopathy, skin changes) syndrome. Prior to a main or secondary hyperlipidemia diagnosis, cutaneous symptoms may also be present. Whenever pruritus is identified in children as a symptom, medical professionals should look into the likelihood of liver cholestasis.
Depending on the site affected, patients with xanthoma disseminatum may exhibit symptoms of dyspnea, dysphagia, & obstruction blindness. Rarely, the gastric system, the central nervous system, the musculoskeletal system, and the intracranial region may all be affected. The Koebner phenomenon-related types and those that are multisystemic but asymptomatic are examples of exceptional situations. The illness might be chronic and advancing or it might be self-limited and spontaneously resolve.
Hematological malignancies, monoclonal gammopathies, & lymphoproliferative diseases are the most frequent causes of diffuse plane xanthomatosis. Although uncommon, Xanthoma disseminatum even without underlying pathology is possible. Rarely, it may be connected to Hand-Schüller-Christian illness, rheumatoid arthritis, Budd-Chiari syndrome, or mycosis fungoides.
Physical examination
Clinically speaking, planar xanthomas, xanthelasma palpebrarum, tendinous xanthomas, tuberous xanthomas, eruptive xanthomas, planar xanthomas, and widespread plane xanthomas can all be classified as cutaneous xanthomas linked with hyperlipidemia. It is possible to mix various sorts together. It’s also possible to see a rare “cauliflower xanthoma” type. Cerebrotendinous xanthomatosis may also be suggested by the presence of cutaneous xanthomas.
The most typical variety of xanthoma is Xanthelasma palpebrarum. The lesions are symmetrical, soft, velvety, golden, flat papules with no symptoms. The inner canthus of the upper eyelids is where they most frequently develop. Massive involvement of all four eyelids may be seen in giant xanthelasma palpebrarum. Firm, painless, reddish-yellow nodules called tuberous xanthomas. The lesions can spread and combine to become multilobulated tumours.
The extensor regions of the knees, elbows, & buttocks are common places for tuberous xanthomas to form. On the cheekbones & nasal bridge, they could sporadically appear. Tendinous xanthomas are subcutaneous nodules that are connected to tendons or ligaments that steadily enlarge. Lesions that resemble atypical gout tophi can develop over the great toe. The extensor tendons of the hands, foot, & Achilles tendons are where they are most frequently found. Trauma is frequently a factor in the lesions.
The lesions of eruptive xanthomas often manifest over the course of several weeks as crops of tiny, reddish-yellow nodules on an erythematous basis. The lesions may be painful, and pruritus is frequently present. The extensor surfaces of the limbs, the shoulders, as well as the buttocks are the areas where eruptive xanthomas most frequently develop. Rarely, the face or oral mucosa may be impacted. There is information on the Koebner phenomena. Although spontaneous remission is possible, recurrence is typical.
Mainly yellowish macules, thin patches are less common in plane xanthoma. They can happen anywhere. Type III dysbetalipoproteinemia is characterised by inclusion of the palmar creases. Yellow, symmetrical plaque lesions cover the periorbital regions, buttocks, neck, upper torso, or flexures in those with diffuse plane xanthomatosis. Oral lesions can appear in unusual forms. Particular xanthoma types that are present in patients with normolipemic conditions include verruciform xanthoma & xanthoma disseminatum. Adult cases of Xanthoma disseminatum typically manifest as red-yellow papules & nodules with a preference for the flexures.
Moreover, lesions can affect the face, proximal extremities, trunk, and, infrequently, the entire eyelid. Rarely, it may manifest as sizable plaques with indurated borders and plaques with encircling papules. Involvement of the mucosa occurs 40% to 60% of the time. Adults typically develop verruciform xanthoma in the gingiva as a solitary, asymptomatic yellow papillomatous lesion. Although cases of extra-oral presentation are uncommon, they have been documented with localization at the oesophagus, anogenital region, forearm, sole, and digits of the foot and hand. A verruciform xanthoma covering the ventral portion of the tongue was also noted in 2021.
Differential diagnosis
There have been a few isolated reports of xanthomas caused by atypical sterol accumulation in the literature. They include beta-sitosterolemia and the previously noted cerebrotendinous xanthomatosis (cholestanol buildup). Moreover, the frequency of atherosclerotic load is higher in these patients, necessitating cautious therapy of both systemic and local illnesses.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
Localized lipid formations within an organ system are known as xanthomas. While being naturally benign, they are frequently a significant outward indicator of systemic illnesses. The first descriptions of these lesions and information on their connections to lipid metabolism appeared in the early 1900s. The importance of xanthomas as a clinical entity crosses many fields, including general pediatrics, medicine, dermatology, & surgery.
In the most recent literature, their pathophysiology & management have attracted much attention. Although they can affect nearly all anatomical areas & organ systems of the human body, they frequently favor the skin & subcutaneous layer. The underlining systemic sickness that is the cause of these lesions’ presence is intimately related to their natural patterns & history of dissemination.
Xanthomas can develop at any age, however, they often first show up in patients with underlying systemic diseases, including familial hypercholesterolemia, in their second decade. In over 75% of elderly people with familial hypercholesterolemia, a tendinous xanthoma has been identified.
Around 6% of the 5504 benign cutaneous malignancies of the eyelids evaluated in a Swiss ophthalmology department in large retrospective research were xanthelasmas. The prevalence of these lesions is inextricably related to the prevalence of these disorders since xanthomas are frequently linked to a variety of systemic disorders.
The metabolic degradation of lipoproteins causes the pathophysiology of xanthomas. VLDL (Very-low-density lipoprotein) in adipose and muscle tissue must be broken down by the enzyme LPL (lipoprotein lipase) in order to release triglycerides and create IDL (intermediate-density lipoprotein), which is composed of the apoproteins B-100 and E.
IDL can either be transformed into apoprotein B-100 or resorbed into the liver through the LDL (low-density lipoprotein) receptors. This summary is not intended to classify the different hypercholesterolemia based on these findings, but distinct xanthoma mostly associates with diverse hypercholesterolemia subtypes.
Xanthomas do not always form in people with hypercholesterolemia or hyperlipidemia. The existence of xanthomatous lesions, however, can act as a special and significant clinical signal of these metabolic conditions. Circulation lipoproteins in patients with hyperlipidemia pass through vascular endothelial cells & deposit in the epidermis, subcutaneous layer, & tendons. The tissue macrophages’ process of phagocytosis then aids in the removal of the membrane lipids of these deposits from those locations.
The xanthomas’ distinctive “foam cells” are said to have developed as a result of this mechanism. It is hypothesized that a different series of events leads to normocholesterolemic xanthomatosis, with localized tissue injury (caused by inflammation or trauma) likely to be a key factor. They are the characteristic “eruptive xanthomas” connected to hypercholesterolemia of types I, IV, & V.
It is predicted that the enhanced vascular permeability brought on by the injury condition will follow a similar common pathway of leaky lipids that are then phagocytosed by epidermal cells. The genesis of lesions in regions that frequently experience mechanical trauma, such as xanthomas of the Achilles tendon, which are frequently observed in people with type II hypercholesterolemia, has been postulated to be related to this pathway. Moreover, paraproteinemias, including those with normal plasma lipid levels, are infrequently linked to xanthomatous lesions.
The cutaneous growth of lymphoreticular tissue in these patients is hypothesized to represent the flat, generally clustered lesions that later take on xanthomatous features. In the context of increased cerebraltendinous xanthomatosis, blood cholesterol provides yet another distinct normolipidemic clinical entity in which xanthomas are discovered in the brain & various extremities tendons. This lipid abnormality is an autosomal recessive condition caused by a hereditary CYP27A1 mutation.
Many variables affect the overall clinical results in xanthoma patients. The underlying condition must be treated effectively first and foremost. Several of the underlying systemic disorders in these patients, like homozygous familial hypocholesterolemia, may have early & high fatality rates. Others may be treated with systemic medications and lifestyle changes, which can significantly increase overall survival.
With adequate systemic care, the majority of smaller xanthoma tumors may either shrink in size or even disappear entirely in terms of localized disease. Recurrence after excision for localized lesions that are symptomatic because of their anatomic placement or size or can be reduced with good surgical planning. An elevated recurrence incidence in these diseases has been linked to partial debulking or resection.
Clinical history
Typically, patients may see specialists due to clinically evident lesions, and after additional testing they will learn they have metabolic disorders. Patients with cutaneous xanthomas may also have a family background of the condition, a background of aortic regurgitation, myocardial infarction, atherosclerosis, or either pancreatitis. Drug-induced tuberous & tendinous xanthomas as well as normolipemic variants of tuberous xanthomas are rare but possible. Rarely, mastocytoma, non-Langerhans cell disease, chronic myelomonocytic leukaemia, & exposure to ultraviolet radiation may be linked to massive solitary planar xanthoma.
Occasionally, xanthomas may be linked to nonsyndromic paucity of interlobular biliary tract, systemic sarcoidosis, and the POEMS (polyneuropathy, organomegaly, endocrinopathy, skin changes) syndrome. Prior to a main or secondary hyperlipidemia diagnosis, cutaneous symptoms may also be present. Whenever pruritus is identified in children as a symptom, medical professionals should look into the likelihood of liver cholestasis.
Depending on the site affected, patients with xanthoma disseminatum may exhibit symptoms of dyspnea, dysphagia, & obstruction blindness. Rarely, the gastric system, the central nervous system, the musculoskeletal system, and the intracranial region may all be affected. The Koebner phenomenon-related types and those that are multisystemic but asymptomatic are examples of exceptional situations. The illness might be chronic and advancing or it might be self-limited and spontaneously resolve.
Hematological malignancies, monoclonal gammopathies, & lymphoproliferative diseases are the most frequent causes of diffuse plane xanthomatosis. Although uncommon, Xanthoma disseminatum even without underlying pathology is possible. Rarely, it may be connected to Hand-Schüller-Christian illness, rheumatoid arthritis, Budd-Chiari syndrome, or mycosis fungoides.
Physical examination
Clinically speaking, planar xanthomas, xanthelasma palpebrarum, tendinous xanthomas, tuberous xanthomas, eruptive xanthomas, planar xanthomas, and widespread plane xanthomas can all be classified as cutaneous xanthomas linked with hyperlipidemia. It is possible to mix various sorts together. It’s also possible to see a rare “cauliflower xanthoma” type. Cerebrotendinous xanthomatosis may also be suggested by the presence of cutaneous xanthomas.
The most typical variety of xanthoma is Xanthelasma palpebrarum. The lesions are symmetrical, soft, velvety, golden, flat papules with no symptoms. The inner canthus of the upper eyelids is where they most frequently develop. Massive involvement of all four eyelids may be seen in giant xanthelasma palpebrarum. Firm, painless, reddish-yellow nodules called tuberous xanthomas. The lesions can spread and combine to become multilobulated tumours.
The extensor regions of the knees, elbows, & buttocks are common places for tuberous xanthomas to form. On the cheekbones & nasal bridge, they could sporadically appear. Tendinous xanthomas are subcutaneous nodules that are connected to tendons or ligaments that steadily enlarge. Lesions that resemble atypical gout tophi can develop over the great toe. The extensor tendons of the hands, foot, & Achilles tendons are where they are most frequently found. Trauma is frequently a factor in the lesions.
The lesions of eruptive xanthomas often manifest over the course of several weeks as crops of tiny, reddish-yellow nodules on an erythematous basis. The lesions may be painful, and pruritus is frequently present. The extensor surfaces of the limbs, the shoulders, as well as the buttocks are the areas where eruptive xanthomas most frequently develop. Rarely, the face or oral mucosa may be impacted. There is information on the Koebner phenomena. Although spontaneous remission is possible, recurrence is typical.
Mainly yellowish macules, thin patches are less common in plane xanthoma. They can happen anywhere. Type III dysbetalipoproteinemia is characterised by inclusion of the palmar creases. Yellow, symmetrical plaque lesions cover the periorbital regions, buttocks, neck, upper torso, or flexures in those with diffuse plane xanthomatosis. Oral lesions can appear in unusual forms. Particular xanthoma types that are present in patients with normolipemic conditions include verruciform xanthoma & xanthoma disseminatum. Adult cases of Xanthoma disseminatum typically manifest as red-yellow papules & nodules with a preference for the flexures.
Moreover, lesions can affect the face, proximal extremities, trunk, and, infrequently, the entire eyelid. Rarely, it may manifest as sizable plaques with indurated borders and plaques with encircling papules. Involvement of the mucosa occurs 40% to 60% of the time. Adults typically develop verruciform xanthoma in the gingiva as a solitary, asymptomatic yellow papillomatous lesion. Although cases of extra-oral presentation are uncommon, they have been documented with localization at the oesophagus, anogenital region, forearm, sole, and digits of the foot and hand. A verruciform xanthoma covering the ventral portion of the tongue was also noted in 2021.
Differential diagnosis
There have been a few isolated reports of xanthomas caused by atypical sterol accumulation in the literature. They include beta-sitosterolemia and the previously noted cerebrotendinous xanthomatosis (cholestanol buildup). Moreover, the frequency of atherosclerotic load is higher in these patients, necessitating cautious therapy of both systemic and local illnesses.
The primary method of treating xanthomas is to cure the underlying medical issues that cause these lesions. These lesions may occasionally be subjected to surgical excisional biopsy in order to rule out other possible diagnoses or treat symptomatic lesions. According to some reports, figuring out the precise lipid type present in a lesion can aid in making a diagnosis of the more serious systemic illness that underlies this observation.
Complete excision, along with medical stabilization of the underlying systemic disease process, is preferred in symptomatic lesions such as tendinous xanthomas over areas that sustain frequent contact with the external environment (for instance, shoe wear in Achilles tendon tumors) in order to reduce the risk of recurrence.
It is crucial to practice cautious soft tissue management and maximize wound closure procedures in regions like the Achilles tendon, where the healing process may be challenging after lesion removal. Optimizing the patient’s lipid profile is the main goal of medical care. In this aspect, HMG-CoA reductase inhibitors have been extremely effective and offer the twin advantages of reducing hyperlipidemia and possibly shrinking xanthomatous tumors.
It’s interesting to note that after liver transplants & plasmapheresis, cases of smaller xanthomas spontaneously disappearing have been made. These findings underline once more how crucial it is to treat severe disease as the main goal. For the therapy of various metabolic illnesses, more recent alternatives have become available.
For instance, it has been discovered that autoantibodies directed against the proprotein individuals who come kexin/subtilisin type 9 allele are efficient treatments for familial hypercholesterolemia. Another successful and prospective treatment for xanthoma disseminatum is 2-chlorodeoxyadenosine, which has lately been mentioned in numerous papers.
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