People who have acrodermatitis enteropathica cannot absorb zinc properly which happens due to mutations in the gene SLC39A4. Zinc as an element is very important for many processes in the body. People with AE exhibit skin rash, loss of hair, and digestive problems or stomach problems. Diagnosis of AE is challenging where doctors or healthcare professionals look on to symptoms exhibited by patients and do genetic tests to confirm it. Zinc supplementation will be the treatment which is for life long. AE was first identified in 1936 which affects 1 in every 5 lakh individuals. If untreated it can be fatal. So, managing its symptoms is done by giving zinc supplementation.Â
Epidemiology
The disease acrodermatitis enteropathica is not common and it affects 1 in every 10 lakh individuals. In infants, 1 in 5 lakh kids will develop this disease across the globe. This disease doesn’t make any difference between gender or race showing it equality across. In infants, development of this disease with signs occurs after they switch from breastfeeding to formula. Notably, Older individuals gets this disease who has zinc deficiency.Â
Anatomy
Pathophysiology
Zinc is an important mineral which helps few enzymes put into action or work properly. It helps our immune system to fight bacteria or germs and it also helps in wound healing. Most of the zinc is absorbed in the intestine especially small intestine with the help of a protein called ZIP4 transporter. Zinc will not get absorbed properly when you have mutations in the gene called SLC39A4. This results in an uncommon condition called acrodermatitis enteropathica which mirror the symptoms of zinc deficiency. Under microscope, we find early skin changes that has minimal layer of granules and PMN infiltration. Overtime, epidermal hyperplasia, and keratinocyte necrosis will occur.       Â
Etiology
The location of the gene SLC39A4 in which mutations happen is present on the 8q24.3 chromosome which forms the ZIP4 protein that helps the zinc to be absorbed in the small intestine from food. Mutations which happen in the said gene makes zinc not being absorbed properly which leads to symptoms shown with deficiency of the zinc. Another varied mutation happens to the gene SLC30A2 on 1p36.11 chromosome which affects the breast milk zinc absorption. This mainly affects the babies and they become zinc deficient when they breastfed.Â
Genetics
Prognostic Factors
AE is treated with the supplementation of zinc for lifetime in people with this condition which has good outlook with an early intervention. But the fatality occurs in early childhood sans treatment. Infants gets affected with skin inflammation, loss of hair, stunted growth, infections, and neurological problems in case of non-intervention. These symptoms upon initiation of the treatment gets resolved.Â
Clinical History
Infants with AE will have problems such as diarrhea, abnormal growth, irritable, rashes appear on the skin, and loss of hair especially after breastfeeding is stopped. AE has classic trio symptoms of skin rash, hair loss, and diarrhea which is exhibited by 20% of affected ones. Onset of symptoms starts up on discontinuation of breastfeeding which are soon showed by infants who are on formula fed due to reduced breast milk zinc levels which is caused in mother due to genetic mutation. Skin problems which happen to them are scaly, dry, red patches, usually near the openings such as mouth but not the upper lip. These patches look similar like blisters or psoriasis. Nails and hair may become dull and brittle too. In cases which got severe, cracked lips, slow healing and discoloration of skin will occur.Â
Physical Examination
Exhibition of AE signs are with scaly, patchy rashes with clean borders that looks crusty and red. Near or around the mouth, backside, and limbs there exhibits blisters and bumps which are pus-filled which makesfungal or bacterial infections to get catch easily. Red eyes, flaky eyes, Mouth sores, and flaky skin surrounding the eyes, who have trouble with lights (bright). Hair and nail problems such as flaky nails, and have hair on head, eyelashes, or eyebrows thinner. Other issues in patients with AE are stomach issues, abnormal growth, low iron, crankiness, neurological issues, and irregular periods. If not treated, it would be fatal. It resembles psoriasis, dandruff, or glucagonoma.Â
Age group
Associated comorbidity
Associated activity
Acuity of presentation
AE has a classic symptom which start after infants stop breastfeeding and who are on formula fed. Intensity of signs depends on the person’s age and severity of the illness i.e., zinc deficiency. Fussiness, abnormal or poor growth, and changes in the skin like dry, red, scaly patches and rashes around the moth, anus, and limbs are the early signs. These lesions can mature into eczema like, psoriasis like, or pus filled with edges crusty. Common are nail and hair loss issues. Cases which are severe makes easy for bacterial or fungal infections. Fatigue, diarrhea,mental illness, and anemia are the other effects. Early diagnosis and early zinc supplementation will avoid complications that can be fatal or life threatening.Â
Dietary iatrogenic deficiency of branched-chain amino acidsÂ
LeucinosisÂ
Epidermolysis bullosaÂ
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Tests for AE check zinc levels in plasma to diagnose in which if levels below 70 or 65 mcg/L in fasting or non-fasting individuals confirm it. Tests should be free from contamination errors. Microscopic skin examination also helps to diagnose this disease. Oral administration or injectable solutions of zinc for lifelong will be the treatment for AE. Immediate improvement will happen after starting the treatment in which monitoring of the zinc levels are required. Moisturizers will help in skin healing. Long term monitoring and follow-ups will help ensure proper growth and development with no special food or activities needed.Â
Individuals with AE should take zinc supplementation for lifelong under the supervision of their healthcare provider regularly. The supplementation will be available in the form of tablets or liquids. Diet should contain zinc rich foods which helps to manage this disease such as crab, pork, oysters, beef, and chicken. These all are required for their growth, development, and any side effects of the treatment. Clothes should be warm and moist. Lotions will help in the management of skin rashes. No activity is needed for AE individuals. But to stay healthy leads to over-all well-being.Â
Use of Zinc supplements in the treatment of individuals with Acrodermatitis enteropathica (AE)
Zinc sulfate: It is used in the treatment of AE which treats zinc deficiency. It is taken in the form of tablets orally every day for lifelong. The body weight will decide the dosage which ranges from 1 to 3 mg/kg/day. Oral administration will be effective in increasing the levels of zinc. Classic trio symptoms such as skin rashes, diarrhea, and hair loss will start improving fast.Â
Zinc chloride: It is also used in the treatment of AE which is given intravenously which also addresses zinc deficiency. It aims to improve the symptoms fast where dermatitis, hair loss, and diarrhea start improving fast.Â
Zinc gluconate:Â It is also used in the treatment of AE. It is available in oral form and its dosage is between 1 to 3mg/kg/day for lifelong and also available in the form of cream that is used on the skin.Â
Nutritional plan in the management of individuals with Acrodermatitis enteropathica (AE)
 AE is also managed by the diet which we take that is rich in zinc such as oysters, crab, pork, beef, and chicken. Foods with protein contain zinc which helps in the management.Â
There are no surgical intervention or procedures as AE is a condition in which there is a problem in the absorption of zinc that is similar to zinc deficiency.Â
AE is a disease which is not common which occurs when there is a problem with zinc absorption inside the body. This happens when there is a mutation on the gene SLC39A4 which exhibits with the trio signs and symptoms such as skin rashes, hair loss, and diarrhea. Diagnosing this is challenging but once diagnosed it is treated with zinc supplementation lifelong which starts showing improvement when the therapy is started. This happens in infants who stopped breastfed or formula fed. Early diagnosis helps to improve the symptoms and avoid life threatening complications which can be fatal, Zinc supplementations such as zinc sulfate, zinc chloride, and zinc gluconate helps in the management of AE. Lifestyle modifications, balanced diet with zinc containing foods and regular follow ups is important.Â
People who have acrodermatitis enteropathica cannot absorb zinc properly which happens due to mutations in the gene SLC39A4. Zinc as an element is very important for many processes in the body. People with AE exhibit skin rash, loss of hair, and digestive problems or stomach problems. Diagnosis of AE is challenging where doctors or healthcare professionals look on to symptoms exhibited by patients and do genetic tests to confirm it. Zinc supplementation will be the treatment which is for life long. AE was first identified in 1936 which affects 1 in every 5 lakh individuals. If untreated it can be fatal. So, managing its symptoms is done by giving zinc supplementation.Â
The disease acrodermatitis enteropathica is not common and it affects 1 in every 10 lakh individuals. In infants, 1 in 5 lakh kids will develop this disease across the globe. This disease doesn’t make any difference between gender or race showing it equality across. In infants, development of this disease with signs occurs after they switch from breastfeeding to formula. Notably, Older individuals gets this disease who has zinc deficiency.Â
Zinc is an important mineral which helps few enzymes put into action or work properly. It helps our immune system to fight bacteria or germs and it also helps in wound healing. Most of the zinc is absorbed in the intestine especially small intestine with the help of a protein called ZIP4 transporter. Zinc will not get absorbed properly when you have mutations in the gene called SLC39A4. This results in an uncommon condition called acrodermatitis enteropathica which mirror the symptoms of zinc deficiency. Under microscope, we find early skin changes that has minimal layer of granules and PMN infiltration. Overtime, epidermal hyperplasia, and keratinocyte necrosis will occur.       Â
The location of the gene SLC39A4 in which mutations happen is present on the 8q24.3 chromosome which forms the ZIP4 protein that helps the zinc to be absorbed in the small intestine from food. Mutations which happen in the said gene makes zinc not being absorbed properly which leads to symptoms shown with deficiency of the zinc. Another varied mutation happens to the gene SLC30A2 on 1p36.11 chromosome which affects the breast milk zinc absorption. This mainly affects the babies and they become zinc deficient when they breastfed.Â
AE is treated with the supplementation of zinc for lifetime in people with this condition which has good outlook with an early intervention. But the fatality occurs in early childhood sans treatment. Infants gets affected with skin inflammation, loss of hair, stunted growth, infections, and neurological problems in case of non-intervention. These symptoms upon initiation of the treatment gets resolved.Â
Infants with AE will have problems such as diarrhea, abnormal growth, irritable, rashes appear on the skin, and loss of hair especially after breastfeeding is stopped. AE has classic trio symptoms of skin rash, hair loss, and diarrhea which is exhibited by 20% of affected ones. Onset of symptoms starts up on discontinuation of breastfeeding which are soon showed by infants who are on formula fed due to reduced breast milk zinc levels which is caused in mother due to genetic mutation. Skin problems which happen to them are scaly, dry, red patches, usually near the openings such as mouth but not the upper lip. These patches look similar like blisters or psoriasis. Nails and hair may become dull and brittle too. In cases which got severe, cracked lips, slow healing and discoloration of skin will occur.Â
Exhibition of AE signs are with scaly, patchy rashes with clean borders that looks crusty and red. Near or around the mouth, backside, and limbs there exhibits blisters and bumps which are pus-filled which makesfungal or bacterial infections to get catch easily. Red eyes, flaky eyes, Mouth sores, and flaky skin surrounding the eyes, who have trouble with lights (bright). Hair and nail problems such as flaky nails, and have hair on head, eyelashes, or eyebrows thinner. Other issues in patients with AE are stomach issues, abnormal growth, low iron, crankiness, neurological issues, and irregular periods. If not treated, it would be fatal. It resembles psoriasis, dandruff, or glucagonoma.Â
AE has a classic symptom which start after infants stop breastfeeding and who are on formula fed. Intensity of signs depends on the person’s age and severity of the illness i.e., zinc deficiency. Fussiness, abnormal or poor growth, and changes in the skin like dry, red, scaly patches and rashes around the moth, anus, and limbs are the early signs. These lesions can mature into eczema like, psoriasis like, or pus filled with edges crusty. Common are nail and hair loss issues. Cases which are severe makes easy for bacterial or fungal infections. Fatigue, diarrhea,mental illness, and anemia are the other effects. Early diagnosis and early zinc supplementation will avoid complications that can be fatal or life threatening.Â
Dietary iatrogenic deficiency of branched-chain amino acidsÂ
LeucinosisÂ
Epidermolysis bullosaÂ
Tests for AE check zinc levels in plasma to diagnose in which if levels below 70 or 65 mcg/L in fasting or non-fasting individuals confirm it. Tests should be free from contamination errors. Microscopic skin examination also helps to diagnose this disease. Oral administration or injectable solutions of zinc for lifelong will be the treatment for AE. Immediate improvement will happen after starting the treatment in which monitoring of the zinc levels are required. Moisturizers will help in skin healing. Long term monitoring and follow-ups will help ensure proper growth and development with no special food or activities needed.Â
Dermatology, General
Individuals with AE should take zinc supplementation for lifelong under the supervision of their healthcare provider regularly. The supplementation will be available in the form of tablets or liquids. Diet should contain zinc rich foods which helps to manage this disease such as crab, pork, oysters, beef, and chicken. These all are required for their growth, development, and any side effects of the treatment. Clothes should be warm and moist. Lotions will help in the management of skin rashes. No activity is needed for AE individuals. But to stay healthy leads to over-all well-being.Â
Dermatology, General
Zinc sulfate: It is used in the treatment of AE which treats zinc deficiency. It is taken in the form of tablets orally every day for lifelong. The body weight will decide the dosage which ranges from 1 to 3 mg/kg/day. Oral administration will be effective in increasing the levels of zinc. Classic trio symptoms such as skin rashes, diarrhea, and hair loss will start improving fast.Â
Zinc chloride: It is also used in the treatment of AE which is given intravenously which also addresses zinc deficiency. It aims to improve the symptoms fast where dermatitis, hair loss, and diarrhea start improving fast.Â
Zinc gluconate:Â It is also used in the treatment of AE. It is available in oral form and its dosage is between 1 to 3mg/kg/day for lifelong and also available in the form of cream that is used on the skin.Â
Dermatology, General
 AE is also managed by the diet which we take that is rich in zinc such as oysters, crab, pork, beef, and chicken. Foods with protein contain zinc which helps in the management.Â
Dermatology, General
There are no surgical intervention or procedures as AE is a condition in which there is a problem in the absorption of zinc that is similar to zinc deficiency.Â
Dermatology, General
AE is a disease which is not common which occurs when there is a problem with zinc absorption inside the body. This happens when there is a mutation on the gene SLC39A4 which exhibits with the trio signs and symptoms such as skin rashes, hair loss, and diarrhea. Diagnosing this is challenging but once diagnosed it is treated with zinc supplementation lifelong which starts showing improvement when the therapy is started. This happens in infants who stopped breastfed or formula fed. Early diagnosis helps to improve the symptoms and avoid life threatening complications which can be fatal, Zinc supplementations such as zinc sulfate, zinc chloride, and zinc gluconate helps in the management of AE. Lifestyle modifications, balanced diet with zinc containing foods and regular follow ups is important.Â
People who have acrodermatitis enteropathica cannot absorb zinc properly which happens due to mutations in the gene SLC39A4. Zinc as an element is very important for many processes in the body. People with AE exhibit skin rash, loss of hair, and digestive problems or stomach problems. Diagnosis of AE is challenging where doctors or healthcare professionals look on to symptoms exhibited by patients and do genetic tests to confirm it. Zinc supplementation will be the treatment which is for life long. AE was first identified in 1936 which affects 1 in every 5 lakh individuals. If untreated it can be fatal. So, managing its symptoms is done by giving zinc supplementation.Â
The disease acrodermatitis enteropathica is not common and it affects 1 in every 10 lakh individuals. In infants, 1 in 5 lakh kids will develop this disease across the globe. This disease doesn’t make any difference between gender or race showing it equality across. In infants, development of this disease with signs occurs after they switch from breastfeeding to formula. Notably, Older individuals gets this disease who has zinc deficiency.Â
Zinc is an important mineral which helps few enzymes put into action or work properly. It helps our immune system to fight bacteria or germs and it also helps in wound healing. Most of the zinc is absorbed in the intestine especially small intestine with the help of a protein called ZIP4 transporter. Zinc will not get absorbed properly when you have mutations in the gene called SLC39A4. This results in an uncommon condition called acrodermatitis enteropathica which mirror the symptoms of zinc deficiency. Under microscope, we find early skin changes that has minimal layer of granules and PMN infiltration. Overtime, epidermal hyperplasia, and keratinocyte necrosis will occur.       Â
The location of the gene SLC39A4 in which mutations happen is present on the 8q24.3 chromosome which forms the ZIP4 protein that helps the zinc to be absorbed in the small intestine from food. Mutations which happen in the said gene makes zinc not being absorbed properly which leads to symptoms shown with deficiency of the zinc. Another varied mutation happens to the gene SLC30A2 on 1p36.11 chromosome which affects the breast milk zinc absorption. This mainly affects the babies and they become zinc deficient when they breastfed.Â
AE is treated with the supplementation of zinc for lifetime in people with this condition which has good outlook with an early intervention. But the fatality occurs in early childhood sans treatment. Infants gets affected with skin inflammation, loss of hair, stunted growth, infections, and neurological problems in case of non-intervention. These symptoms upon initiation of the treatment gets resolved.Â
Infants with AE will have problems such as diarrhea, abnormal growth, irritable, rashes appear on the skin, and loss of hair especially after breastfeeding is stopped. AE has classic trio symptoms of skin rash, hair loss, and diarrhea which is exhibited by 20% of affected ones. Onset of symptoms starts up on discontinuation of breastfeeding which are soon showed by infants who are on formula fed due to reduced breast milk zinc levels which is caused in mother due to genetic mutation. Skin problems which happen to them are scaly, dry, red patches, usually near the openings such as mouth but not the upper lip. These patches look similar like blisters or psoriasis. Nails and hair may become dull and brittle too. In cases which got severe, cracked lips, slow healing and discoloration of skin will occur.Â
Exhibition of AE signs are with scaly, patchy rashes with clean borders that looks crusty and red. Near or around the mouth, backside, and limbs there exhibits blisters and bumps which are pus-filled which makesfungal or bacterial infections to get catch easily. Red eyes, flaky eyes, Mouth sores, and flaky skin surrounding the eyes, who have trouble with lights (bright). Hair and nail problems such as flaky nails, and have hair on head, eyelashes, or eyebrows thinner. Other issues in patients with AE are stomach issues, abnormal growth, low iron, crankiness, neurological issues, and irregular periods. If not treated, it would be fatal. It resembles psoriasis, dandruff, or glucagonoma.Â
AE has a classic symptom which start after infants stop breastfeeding and who are on formula fed. Intensity of signs depends on the person’s age and severity of the illness i.e., zinc deficiency. Fussiness, abnormal or poor growth, and changes in the skin like dry, red, scaly patches and rashes around the moth, anus, and limbs are the early signs. These lesions can mature into eczema like, psoriasis like, or pus filled with edges crusty. Common are nail and hair loss issues. Cases which are severe makes easy for bacterial or fungal infections. Fatigue, diarrhea,mental illness, and anemia are the other effects. Early diagnosis and early zinc supplementation will avoid complications that can be fatal or life threatening.Â
Dietary iatrogenic deficiency of branched-chain amino acidsÂ
LeucinosisÂ
Epidermolysis bullosaÂ
Tests for AE check zinc levels in plasma to diagnose in which if levels below 70 or 65 mcg/L in fasting or non-fasting individuals confirm it. Tests should be free from contamination errors. Microscopic skin examination also helps to diagnose this disease. Oral administration or injectable solutions of zinc for lifelong will be the treatment for AE. Immediate improvement will happen after starting the treatment in which monitoring of the zinc levels are required. Moisturizers will help in skin healing. Long term monitoring and follow-ups will help ensure proper growth and development with no special food or activities needed.Â
Dermatology, General
Individuals with AE should take zinc supplementation for lifelong under the supervision of their healthcare provider regularly. The supplementation will be available in the form of tablets or liquids. Diet should contain zinc rich foods which helps to manage this disease such as crab, pork, oysters, beef, and chicken. These all are required for their growth, development, and any side effects of the treatment. Clothes should be warm and moist. Lotions will help in the management of skin rashes. No activity is needed for AE individuals. But to stay healthy leads to over-all well-being.Â
Dermatology, General
Zinc sulfate: It is used in the treatment of AE which treats zinc deficiency. It is taken in the form of tablets orally every day for lifelong. The body weight will decide the dosage which ranges from 1 to 3 mg/kg/day. Oral administration will be effective in increasing the levels of zinc. Classic trio symptoms such as skin rashes, diarrhea, and hair loss will start improving fast.Â
Zinc chloride: It is also used in the treatment of AE which is given intravenously which also addresses zinc deficiency. It aims to improve the symptoms fast where dermatitis, hair loss, and diarrhea start improving fast.Â
Zinc gluconate:Â It is also used in the treatment of AE. It is available in oral form and its dosage is between 1 to 3mg/kg/day for lifelong and also available in the form of cream that is used on the skin.Â
Dermatology, General
 AE is also managed by the diet which we take that is rich in zinc such as oysters, crab, pork, beef, and chicken. Foods with protein contain zinc which helps in the management.Â
Dermatology, General
There are no surgical intervention or procedures as AE is a condition in which there is a problem in the absorption of zinc that is similar to zinc deficiency.Â
Dermatology, General
AE is a disease which is not common which occurs when there is a problem with zinc absorption inside the body. This happens when there is a mutation on the gene SLC39A4 which exhibits with the trio signs and symptoms such as skin rashes, hair loss, and diarrhea. Diagnosing this is challenging but once diagnosed it is treated with zinc supplementation lifelong which starts showing improvement when the therapy is started. This happens in infants who stopped breastfed or formula fed. Early diagnosis helps to improve the symptoms and avoid life threatening complications which can be fatal, Zinc supplementations such as zinc sulfate, zinc chloride, and zinc gluconate helps in the management of AE. Lifestyle modifications, balanced diet with zinc containing foods and regular follow ups is important.Â
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.
