Describe the other genetic blistering diseases. - Acrodermatitis enteropathica: This condition may be autosomal recessive or acquired and is due to a deficiency of zinc. Cutaneous findings include scaling and vesicles in a periorificial and acral distribution associated with alopecia. Diarrhea is often present. This disorder occurs in infants, especially premature infants, and alcoholics (acquired form) or other patients with impaired gastrointestinal absorption of zinc. Skin biopsy and serum zinc levels are helpful diagnostic tests. Deficiencies of essential fatty acids and amino acids may also cause acrodermatitis enteropathica.
- Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis): This autosomal dominant disease presents with diffuse erythema at birth, with later development of flaccid bullae, and still later with furrowed hyperkeratosis. The defect is in keratins 1 and 10. The diagnosis is by skin biopsy and family history, in addition to clinical findings and disease course.
- Hailey-Hailey disease (benign familial pemphigus): In this autosomal dominant disorder, blisters, erosions, and crusts develop in the intertriginous areas. These may begin early in life or later. The intraepidermal blisters form secondary to a loss of cohesion between keratinocytes (acantholysis). The underlying defect is in ATP2C1, which encodes a calcium pump. Secondary bacterial infections are common. A diagnosis is established by routine skin biopsy.
- Incontinentia pigmenti: This X-linked disease is seen predominantly in females; affected males usually die in utero. It begins in neonatal life, with vesicles occurring in a whorled pattern. Later, verrucous lesions develop, and finally, hyperpigmented patches appear. Skin biopsy is a helpful diagnostic test.
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