CHS is rare childhood autosomal recessive disorder affects multiple body systems. Patients suffer from bacterial infections or lymphoproliferation leads to morbidity in major organs.
Patients may die from lymphoproliferative syndrome if they fail to operate for a bone marrow transplant.
Young adults with defects and albinism or infections to consider CHS. Diagnosis based on presence of eosinophilic peroxidase-positive granules.
Beguez-Cesar (1943) described CHS over 60 years ago in three siblings with neutropenia and abnormal granules.
LYST mutation causes giant lysosomal granules in leukocytes, melanocytes, platelets, and impairs cell function in LYST-related diseases.
Epidemiology
It has <500 cases worldwide in past 20 years. It is challenging to determine the true prevalence of a condition due to repeated reporting and under-recognized variability in symptoms.
CHS affects all races but may be underreported in darker-skinned individuals. CHS symptoms arise in infants or children under 5 with onset around 5.85 years.
It has fatal outcomes typically before age 10. All age groups with atypical and classic CHS who had successful stem cell transplants show neurologic symptoms later.
The CHS gene impacts granule synthesis in different cell types to enlarged and irregularly shaped lysosomes, dense bodies, azurophilic granules, and melanosomes.
Neutrophils and monocytes have mixed populations. Polymorphonuclear leukocytes may have impaired function from microtubular issues.
Cause of peripheral neuropathy in CHS not fully understood. Both axonal and demyelinating types reported.
Etiology
CHS linked to CHS1/LYST gene mutations on 1q42-43 causes granule morphogenesis defect in various tissues.
Granules unique to CHS found in granulocytes from blood and bone marrow diagnose condition. Loss of immune function in CHS may be linked to issues with T-cell and neutrophil processes.
Genetics
Prognostic Factors
Fatal respiratory and cutaneous infections in children with CHS occur before age 10. Longer survival may result in complications.
CHS patients with LYST gene deletions have poor prognosis with early accelerated phase.
Patients with missense mutations have better prognosis, no HLH, and no neuro involvement.
CHS patients with LYST gene deletions face early accelerated phase while missense mutations better prognosis.
Clinical History
Collect details such as presenting symptoms, family and medical history to know clinical history of patient.
Physical Examination
Functional examination
Neurological examination
Abdominal examination
Ocular assessment
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Chronic symptoms are:
Skin abscesses, sinusitis, otitis media
Accelerated symptoms are:
High fever, hepatosplenomegaly, pancytopenia, lymphadenopathy
Differential Diagnoses
Cutaneous T-Cell Lymphoma
Pyoderma Gangrenosum
Griscelli Syndrome
Hermansky-Pudlak Syndrome
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Allogeneic transplants from matched sibling or unrelated/cord blood donors treat immunologic disorders effectively.
Differentiation between childhood and adolescent/adult CHS patients for effective treatment.
Allogenic HSCT cures hematologic and immunologic defects but does not prevent long-term progressive neurological dysfunction.
HSCT is recommended once the diagnosis is confirmed and the accelerated phase is ruled out.
The best results should be achieved with HSCT before accelerated phase.
Combined therapy with etoposide, dexamethasone, and cyclosporine A achieves 75% remission in 8 weeks, but relapses and decreased response occur.
Platelet transfusions are recommended for severe uncontrolled bleeding when previous treatments fail or in anticipation of heavy bleeding.
In the initial treatment phase medical history, physical examination and laboratory testing were conducted to confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes use of antiviral agents, immune modulators, antineoplastic agents, and anti-inflammatory agents.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical intervention.
The regular follow-up visits with the dermatologist are scheduled to check the improvement of patients along with treatment response.
CHS is rare childhood autosomal recessive disorder affects multiple body systems. Patients suffer from bacterial infections or lymphoproliferation leads to morbidity in major organs.
Patients may die from lymphoproliferative syndrome if they fail to operate for a bone marrow transplant.
Young adults with defects and albinism or infections to consider CHS. Diagnosis based on presence of eosinophilic peroxidase-positive granules.
Beguez-Cesar (1943) described CHS over 60 years ago in three siblings with neutropenia and abnormal granules.
LYST mutation causes giant lysosomal granules in leukocytes, melanocytes, platelets, and impairs cell function in LYST-related diseases.
It has <500 cases worldwide in past 20 years. It is challenging to determine the true prevalence of a condition due to repeated reporting and under-recognized variability in symptoms.
CHS affects all races but may be underreported in darker-skinned individuals. CHS symptoms arise in infants or children under 5 with onset around 5.85 years.
It has fatal outcomes typically before age 10. All age groups with atypical and classic CHS who had successful stem cell transplants show neurologic symptoms later.
The CHS gene impacts granule synthesis in different cell types to enlarged and irregularly shaped lysosomes, dense bodies, azurophilic granules, and melanosomes.
Neutrophils and monocytes have mixed populations. Polymorphonuclear leukocytes may have impaired function from microtubular issues.
Cause of peripheral neuropathy in CHS not fully understood. Both axonal and demyelinating types reported.
CHS linked to CHS1/LYST gene mutations on 1q42-43 causes granule morphogenesis defect in various tissues.
Granules unique to CHS found in granulocytes from blood and bone marrow diagnose condition. Loss of immune function in CHS may be linked to issues with T-cell and neutrophil processes.
Fatal respiratory and cutaneous infections in children with CHS occur before age 10. Longer survival may result in complications.
CHS patients with LYST gene deletions have poor prognosis with early accelerated phase.
Patients with missense mutations have better prognosis, no HLH, and no neuro involvement.
CHS patients with LYST gene deletions face early accelerated phase while missense mutations better prognosis.
Collect details such as presenting symptoms, family and medical history to know clinical history of patient.
Functional examination
Neurological examination
Abdominal examination
Ocular assessment
Chronic symptoms are:
Skin abscesses, sinusitis, otitis media
Accelerated symptoms are:
High fever, hepatosplenomegaly, pancytopenia, lymphadenopathy
Cutaneous T-Cell Lymphoma
Pyoderma Gangrenosum
Griscelli Syndrome
Hermansky-Pudlak Syndrome
Allogeneic transplants from matched sibling or unrelated/cord blood donors treat immunologic disorders effectively.
Differentiation between childhood and adolescent/adult CHS patients for effective treatment.
Allogenic HSCT cures hematologic and immunologic defects but does not prevent long-term progressive neurological dysfunction.
HSCT is recommended once the diagnosis is confirmed and the accelerated phase is ruled out.
The best results should be achieved with HSCT before accelerated phase.
Combined therapy with etoposide, dexamethasone, and cyclosporine A achieves 75% remission in 8 weeks, but relapses and decreased response occur.
Platelet transfusions are recommended for severe uncontrolled bleeding when previous treatments fail or in anticipation of heavy bleeding.
Dermatology, General
Use ergonomic chairs and adjustable desks to improve posture of patient at work.
Use of air purifiers in the bedroom and main living areas. Provide UV-blocking curtains in the home to reduce glare.
Maintain comfortable temperature to avoid worsen symptoms of extreme temperatures.
Proper awareness about CHS should be provided and its related causes with management strategies.
Appointments with a dermatologist and preventing recurrence of disorder is an ongoing life-long effort.
Dermatology, General
Acyclovir:
It interferes with DNA polymerase to inhibit DNA replication through chain termination.
Dermatology, General
Immune globulin intravenous:
It blocks Fc receptors on macrophages and suppresses inducer T and B cells.
Dermatology, General
Vincristine:
It involves a decrease in reticuloendothelial cell function in platelet production.
Dermatology, General
It decreases leukocyte motility and phagocytosis in inflammatory responses.
Dermatology, General
Surgical options for debridement and drainage of deep abscesses may be performed.
Dermatology, General
In the initial treatment phase medical history, physical examination and laboratory testing were conducted to confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes use of antiviral agents, immune modulators, antineoplastic agents, and anti-inflammatory agents.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical intervention.
The regular follow-up visits with the dermatologist are scheduled to check the improvement of patients along with treatment response.
CHS is rare childhood autosomal recessive disorder affects multiple body systems. Patients suffer from bacterial infections or lymphoproliferation leads to morbidity in major organs.
Patients may die from lymphoproliferative syndrome if they fail to operate for a bone marrow transplant.
Young adults with defects and albinism or infections to consider CHS. Diagnosis based on presence of eosinophilic peroxidase-positive granules.
Beguez-Cesar (1943) described CHS over 60 years ago in three siblings with neutropenia and abnormal granules.
LYST mutation causes giant lysosomal granules in leukocytes, melanocytes, platelets, and impairs cell function in LYST-related diseases.
It has <500 cases worldwide in past 20 years. It is challenging to determine the true prevalence of a condition due to repeated reporting and under-recognized variability in symptoms.
CHS affects all races but may be underreported in darker-skinned individuals. CHS symptoms arise in infants or children under 5 with onset around 5.85 years.
It has fatal outcomes typically before age 10. All age groups with atypical and classic CHS who had successful stem cell transplants show neurologic symptoms later.
The CHS gene impacts granule synthesis in different cell types to enlarged and irregularly shaped lysosomes, dense bodies, azurophilic granules, and melanosomes.
Neutrophils and monocytes have mixed populations. Polymorphonuclear leukocytes may have impaired function from microtubular issues.
Cause of peripheral neuropathy in CHS not fully understood. Both axonal and demyelinating types reported.
CHS linked to CHS1/LYST gene mutations on 1q42-43 causes granule morphogenesis defect in various tissues.
Granules unique to CHS found in granulocytes from blood and bone marrow diagnose condition. Loss of immune function in CHS may be linked to issues with T-cell and neutrophil processes.
Fatal respiratory and cutaneous infections in children with CHS occur before age 10. Longer survival may result in complications.
CHS patients with LYST gene deletions have poor prognosis with early accelerated phase.
Patients with missense mutations have better prognosis, no HLH, and no neuro involvement.
CHS patients with LYST gene deletions face early accelerated phase while missense mutations better prognosis.
Collect details such as presenting symptoms, family and medical history to know clinical history of patient.
Functional examination
Neurological examination
Abdominal examination
Ocular assessment
Chronic symptoms are:
Skin abscesses, sinusitis, otitis media
Accelerated symptoms are:
High fever, hepatosplenomegaly, pancytopenia, lymphadenopathy
Cutaneous T-Cell Lymphoma
Pyoderma Gangrenosum
Griscelli Syndrome
Hermansky-Pudlak Syndrome
Allogeneic transplants from matched sibling or unrelated/cord blood donors treat immunologic disorders effectively.
Differentiation between childhood and adolescent/adult CHS patients for effective treatment.
Allogenic HSCT cures hematologic and immunologic defects but does not prevent long-term progressive neurological dysfunction.
HSCT is recommended once the diagnosis is confirmed and the accelerated phase is ruled out.
The best results should be achieved with HSCT before accelerated phase.
Combined therapy with etoposide, dexamethasone, and cyclosporine A achieves 75% remission in 8 weeks, but relapses and decreased response occur.
Platelet transfusions are recommended for severe uncontrolled bleeding when previous treatments fail or in anticipation of heavy bleeding.
Dermatology, General
Use ergonomic chairs and adjustable desks to improve posture of patient at work.
Use of air purifiers in the bedroom and main living areas. Provide UV-blocking curtains in the home to reduce glare.
Maintain comfortable temperature to avoid worsen symptoms of extreme temperatures.
Proper awareness about CHS should be provided and its related causes with management strategies.
Appointments with a dermatologist and preventing recurrence of disorder is an ongoing life-long effort.
Dermatology, General
Acyclovir:
It interferes with DNA polymerase to inhibit DNA replication through chain termination.
Dermatology, General
Immune globulin intravenous:
It blocks Fc receptors on macrophages and suppresses inducer T and B cells.
Dermatology, General
Vincristine:
It involves a decrease in reticuloendothelial cell function in platelet production.
Dermatology, General
It decreases leukocyte motility and phagocytosis in inflammatory responses.
Dermatology, General
Surgical options for debridement and drainage of deep abscesses may be performed.
Dermatology, General
In the initial treatment phase medical history, physical examination and laboratory testing were conducted to confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes use of antiviral agents, immune modulators, antineoplastic agents, and anti-inflammatory agents.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical intervention.
The regular follow-up visits with the dermatologist are scheduled to check the improvement of patients along with treatment response.
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
