Keratoderma hereditarium mutilans

Keratoderma hereditarium mutilans, also known as Vohwinkel syndrome or mutilating keratoderma, is a rare inherited skin disorder characterized by diffuse, honeycomb-patterned thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The hallmark feature of this condition is the development of constricting fibrous bands (pseudoainhum) around the fingers and toes, which progressively tighten over time and can lead to autoamputation of the digits. Additional features may include starfish-shaped keratotic plaques on the knuckles and backs of the hands and feet, as well as mild to moderate sensorineural hearing loss. The skin changes typically begin in infancy or early childhood and worsen with age. The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene, which encodes connexin 26, a gap junction protein important for cell-to-cell communication in the skin and inner ear. A variant form associated with ichthyosis has been linked to mutations in the loricrin gene (LOR). The condition primarily affects the integumentary system (skin, nails) and can also involve the auditory system. There is no cure for keratoderma hereditarium mutilans. Treatment is largely symptomatic and supportive. Topical keratolytic agents (such as salicylic acid or urea-based creams) and oral retinoids (such as acitretin) may help reduce the thickness of the keratoderma and slow the progression of the constricting bands. Surgical intervention may be necessary to release or prevent digital constriction and autoamputation. Audiological evaluation and management of hearing loss are also important components of care. Regular follow-up with dermatology and genetic counseling for affected families is recommended.

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