Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar keratoderma and congenital alopecia (also known as Stevanovic syndrome or keratosis palmoplantaris with alopecia) is an extremely rare inherited skin disorder characterized by the combination of thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) along with absence or severe reduction of hair (congenital alopecia). The condition primarily affects the skin and hair follicles. The keratoderma typically presents as diffuse or focal thickening of the palmoplantar skin, which can cause discomfort and functional impairment, while the alopecia is present from birth and may involve the scalp and other body hair. This condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene from one affected parent is sufficient to cause the disorder. The molecular genetic basis of this condition has not been fully elucidated. The syndrome was originally described in a limited number of families, and very few cases have been reported in the medical literature, making it one of the rarest forms of hereditary palmoplantar keratoderma. There is currently no cure for this condition. Treatment is symptomatic and supportive, focusing on management of the keratoderma with emollients, keratolytic agents (such as salicylic acid or urea-based creams), and careful skin care to reduce thickening and prevent complications such as fissuring or secondary infections. The alopecia component may be addressed with cosmetic solutions such as wigs. Regular dermatological follow-up is recommended to monitor skin changes and optimize management.

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