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Excerpt from Acrodermatitis EnteropathicaSynonyms, Key Words, and Related Terms: AE, autosomal recessive zinc deficiency, ocular disease, photophobia, blepharospasm, amblyopia, lid sloughing, chronic conjunctivitis, seborrheic blepharitis, punctate keratopathy, keratomalacia, lid deficit, conjunctival deficit, ocular surface deficit, paronychia, alopecia, trichiasis, entropion, lash loss, brow loss, punctal stenosis, corneal changes, keratitis sicca, infectious keratitis Please click here to view the full topic text: Acrodermatitis EnteropathicaBackgroundAcrodermatitis enteropathica (AE) is a rare autosomal recessive disorder characterized by periorificial and acral dermatitis, alopecia, growth failure, gastrointestinal disturbance, and diarrhea. Symptoms of AE occur within the first few months after birth and tend to appear in nonbreastfed infants or in infants shortly after discontinuation of breastfeeding. Ocular complications include lid and surface involvement as well as secondary infections. PathophysiologyThe nature of the metabolic defect is currently attributed to zinc absorption. The AE mutation creates reduced zinc uptake and abnormal zinc metabolism in human fibroblasts. The gene defect is located on chromosome 8, characterized as the intestinal zinc transporter gene, or SLC39A4 gene, at locus 8q24.3. FrequencyUnited StatesUnknown InternationalIt is estimated that 1 in 500,000 people in Denmark are affected. Mortality/MorbidityAE is lethal, usually within the first few years of life, if left untreated. However, an untreated adult survivor was reported. RaceNo racial predilection exists. SexNo sexual preference exists. AgeAE appears in the first few months after birth or after cessation of breastfeeding. Please click here to view the full topic text: Acrodermatitis Enteropathica |
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