Acrodermatitis Enteropathica

Acrodermatitis enteropathica is a rare autosomal recessive disorder caused by an inability to absorb sufficient zinc from the diet. The genetic defect is in the intestinal zinc specific transporter gene SLC39A4. Initial signs and symptoms usually occur in the first few months of life, often after weaning from breast milk to cow’s milk. The cutaneous eruption consists of vesiculobullous, eczematous, dry, scaly, or psoriasiform skin lesions symmetrically distributed in the perioral, acral, and perineal areas (Fig. 663-1) and on the cheeks, knees, and elbows (Fig. 663-2). The hair often has a peculiar, reddish tint, and alopecia of some degree is characteristic. Ocular manifestations include photophobia, conjunctivitis, blepharitis, and corneal dystrophy detectable by slit-lamp examination. Associated manifestations include chronic diarrhea, stomatitis, glossitis, paronychia, nail dystrophy, growth retardation, irritability, delayed wound healing, intercurrent bacterial infections, and superinfection with Candida albicans. Lymphocyte function and free radical scavenging are impaired. Without treatment, the course is chronic and intermittent but often relentlessly progressive. When the disease is less severe, only growth retardation and delayed development may be apparent.

Figure 663-1 A, Periorificial eruption. B, Diaper rash. The skin findings are typical of zinc deficiency, in this case caused by low levels of zinc in breast milk.

(From Eichenfield LF, Frieden IJ, Esterly NB: Textbook of neonatal dermatology, Philadelphia, 2001, WB Saunders, p 254.)

Figure 663-2 A, Psoriasiform lesion of zinc deficiency dermatitis on the ankles. B, Similar lesions on the elbows.

The diagnosis is established by the constellation of clinical findings and detection of a low plasma zinc concentration. Histopathologic changes in the skin are nonspecific and include parakeratosis and pallor of the upper epidermis. The variety of manifestations of the syndrome may be due to the facts that zinc has a role in numerous metabolic pathways, including those of copper, protein, essential fatty acids, and prostaglandins, and that zinc is incorporated into many zinc metalloenzymes.

Oral therapy