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Acrodermatitis enteropathica
Classification & external resources

ICD-10	E83.2
OMIM	201100
DiseasesDB	29602
eMedicine	derm/5

Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. Similar features may be present in acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes. Some synonyms of this condition are:

• Brandt Syndrome
• Danbolt-Cross Syndrome
• Congenital Zinc Deficiency

Contents 1 Pathogenesis 2 Presentation 3 Treatment 4 External links 5 Organizations and resources

The genetic mutation of SLC39A4 gene on Chromosome 8q locus 24.3 appears to be the cause. The SLC39A4 gene appears to encode a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of zinc and prevents the disease from being manifested while an infant is on breast milk.

Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. There are erythematous patches and plaques of dry, scaly skin. The lesions may appear eczematous, or may evolve further into crusted vesicles , bullas or pustules. The lesions are frequent around natural orifices like the mouth (peri-oral) and anus (peri-anal), and also in hands, feet and scalp. There may be suppurative inflammation of the nail fold surrounding the nail plate - known as paronychia. Alopecia - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.

Without treatment, the disease is fatal and affected individuals may die within a few years. However, there is no absolute treatment of the condition. Lifelong dietary zinc supplementation in the range of greater than 1-2 mg/kg of bodyweight per day is usually needed.

• eMedicine article
• DermNet NZ article
• WebMD article
• Doctor's doctor article
• Dermis.net article with images

The following organizations provide information and patient support resources:

• CLIMB (Children Living with Inherited Metabolic Diseases)
• March of Dimes Birth Defects Foundation
• American Autoimmune Related Diseases Association, Inc.
• NIH/National Digestive Diseases Information Clearinghouse

v • d • e Metabolic pathology (E70-90)
Amino acid	Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI), Fructose intolerance, Galactosemia
Lipid	Lipid storage disorders Sphingolipidoses: Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease) Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Porphyrin and bilirubin	Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
Glycosaminoglycan	Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
Glycoprotein	I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome