Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive 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) and absence or severe reduction of hair from birth (congenital alopecia). The condition primarily affects the skin and hair follicles. The keratoderma typically presents as diffuse, symmetrical thickening of the palmar and plantar skin, which can cause discomfort and functional impairment. The alopecia may be total or near-total, affecting the scalp and potentially other body hair. Nails may also be affected in some cases, with dystrophic changes reported. This condition follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the disease-causing gene variant — one from each parent. Parents of affected individuals are typically unaffected carriers. The molecular genetic basis of this condition remains poorly characterized, and the specific causative gene has not been definitively identified in all reported families. Only a very small number of families have been described in the medical literature. There is currently no cure for this condition. Treatment is symptomatic and supportive. Management of palmoplantar keratoderma typically involves the use of emollients, keratolytic agents (such as salicylic acid or urea-based creams), and careful skin care to reduce thickening and prevent complications such as fissuring and secondary infections. For congenital alopecia, wigs or hairpieces may be used for cosmetic purposes. Genetic counseling is recommended for affected families to discuss recurrence risks and family planning options.

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