Acrodermatitis enteropathica

Acrodermatitis enteropathica
Classification and external resources
Specialty	endocrinology
ICD-10	E83.2 (ILDS E83.210)
ICD-9-CM	686.8
OMIM	201100
DiseasesDB	29602
eMedicine	derm/5

Acrodermatitis enteropathica is an autosomal recessive^[1] metabolic disorder affecting the uptake of zinc, 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.

Other names for acrodermatitis enteropathica include:

Brandt syndrome
Danbolt–Closs syndrome^[2]
Congenital zinc deficiency

Signs and symptoms

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 the mouth and anus, 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 the 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.

Patients with different ages experience different symptoms from this disorder. In infants, very uncontrollable diarrhea, mood changes, anorexia, and neurological disorders are frequently reported. Growth retardation, alopecia, weight loss, and recurrent infections can happen among toddlers and young children, and spontaneous remission may occur in adolescence^[3]

Genetics

Acrodermatitis enteropathica has an autosomal recessive pattern of inheritance.

A mutation of the SLC39A4 gene on chromosome 8 q24.3 is responsible for the disorder.^[4] The SLC39A4 gene encodes 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.^[5]

Treatment

Without treatment, the disease is fatal and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation in the range of greater than 1–2 mg/kg of bodyweight per day.

References

↑ Wang, K; Pugh, Ew; Griffen, S; Doheny, Kf; Mostafa, Wz; Al-Aboosi, Mm; El-Shanti, H; Gitschier, J (April 2001). "Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3". American Journal of Human Genetics 68 (4): 1055–60. doi:10.1086/319514. PMC: 1275625. PMID 11254458.
↑ Stedman, Thomas Lathrop. 2005. Stedman's Medical Eponyms. Baltimore: Lippincott Williams & Wilkins, p. 170.
↑ Khan Mohammad Beigi, Pooya; Maverakis, Emanual (2015). Acrodermatitis Enteropathica A Clinician's Guide. Retrieved from http://download.springer.com.ezproxy.library.ubc.ca/static/pdf/730/bok%253A978-3-319-17819-6.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Fbook%2F10.1007%2F978-3-319-17819-6&token2=exp=1458874589~acl=%2Fstatic%2Fpdf%2F730%2Fbok%25253A978-3-319-17819-6.pdf%3ForiginUrl%3Dhttp%253A%252F%252Flink.springer.com%252Fbook%252F10.1007%252F978-3-319-17819-6*~hmac=67fc1da6a670ff6b4d4b0de6c72f3d62dc91f0f43096a746e3d4fd3d254797bd
↑ Küry, S; Dréno, B; Bézieau, S; Giraudet, S; Kharfi, M; Kamoun, R; Moisan, Jp (July 2002). "Identification of SLC39A4, a gene involved in acrodermatitis enteropathica". Nature Genetics 31 (3): 239–40. doi:10.1038/ng913. PMID 12068297.
↑ Michalczyk, A; Varigos, G; Catto-Smith, A; Blomeley, Rc; Ackland, Ml (August 2003). "Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk". Human Genetics 113 (3): 202–10. doi:10.1007/s00439-003-0952-2. PMID 12743795.

External links

Inborn error of metal metabolism (E83, 275)

Transition metal

high:	Primary iron overload disorder: Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis

deficiency:	Iron deficiency

high:	Copper toxicity Wilson's disease

deficiency:	Copper deficiency Menkes disease/Occipital horn syndrome

high:	Zinc toxicity

deficiency:	Acrodermatitis enteropathica

Electrolyte

Na⁺ and K⁺

see Template:Water-electrolyte imbalance and acid-base imbalance

PO₄³⁻

high:	Hyperphosphatemia

deficiency:	Hypophosphatemia alkaline phosphatase Hypophosphatasia

Mg²⁺

high:	Hypermagnesemia

deficiency:	Hypomagnesemia

Ca²⁺

high:	Hypercalcaemia Milk-alkali syndrome (Burnett's) Calcinosis (Calciphylaxis, Calcinosis cutis) Calcification (Metastatic calcification, Dystrophic calcification) Familial hypocalciuric hypercalcemia

deficiency:	Hypocalcaemia Osteomalacia Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) Pseudopseudohypoparathyroidism

Dermatitis and eczema (L20–L30, 690–693,698)

Atopic dermatitis	Besnier's prurigo

Seborrheic dermatitis	Pityriasis simplex capillitii Cradle cap

Contact dermatitis (allergic, irritant)	plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis

Eczema	Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis/Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema

Pruritus/Itch/ Prurigo	Lichen simplex chronicus/Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus

Other	substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji

Genetic disorder, membrane: Solute carrier disorders

1-10	SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria

11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25

21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload

see also solute carrier family

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