General Medical Information

Other Congenital Diseases

Wilberto Nieves-Neira
Bhagirath Majmudar
Ira R. Horowitz

Hailey-Hailey disease (benign familial pemphigus) is a rare autosomal dominant dermatosis. The disease is characterized by a chronic, recurrent, erosive papular eruption of skin folds, including the groin. Disease severity varies among patients, but typically it waxes and wanes. Darier’s disease (keratosis follicularis) is another rare autosomal dominant disorder. Despite the clinical and histologic overlap of both diseases, mutations of different genes are associated with each disorder. Darier’s disease is seen more commonly in the adult, although it is an inherited condition. Lesions usually are symmetric, keratotic, reddish-brown papules in the seborrheic areas of the body. A localized, unilateral variant has been identified. Pruritus is a common symptom. Childhood vulvar lesions associated with Darier’s disease are extremely rare. Lesions present as verrucous papules coalescing into plaques in the labia majora and may be confused with genital warts. Warty dyskeratoma is a noninherited, isolated, single keratotic nodule typically confined to the head and neck. Histologically, warty dyskeratoma is indistinguishable from Darier’s disease. Isolated warty dyskeratoma of the vulva has been observed in the absence of any other skin lesions.

Biopsy is needed to establish the diagnosis. Both conditions are extremely difficult to treat. The conventional treatment of both disorders consists of topical or oral corticosteroids and antibiotics to control secondary infection. Long-term remission is difficult to achieve. Ablation of lesions with carbon dioxide laser is a useful modality. Erbium:YAG laser treatment, which produces less thermal damage than the CO2 laser, has been reported to achieve complete remissions. Oral and topical use of retinoids has been reported to be a useful modality capable of achieving remission.