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Congenital deafness with keratopachyderma and constrictions of fingers and toes. The risk of autoamputation is significantly high, mostly as a result of trauma and infections.

Mutilating Keratoderma; Keratoderma Hereditarium Mutilans; Congenital Deafness with Keratopachyderma and Constriction of Fingers and Toes Syndrome.

First described by K.H. Vohwinkel in 1929.

Autosomal dominant.

Caused by mutation in the gene encoding connexin-26, a gap-junction protein (GJB2).

Hyperkeratoses of the palms and soles occurring in infancy or early childhood. Histological examination shows thickening of the granular layer, moderate acanthosis, and a few mononuclear inflammatory cells in the papillary dermis. Radiological investigation demonstrates mild bone rarefaction and osteoporotic changes distal to the constricting bands.

Characterized by diffuse hyperkeratosis of the palms and soles, with a “honeycomb” appearance that progresses to “starfish-shaped” keratotic plaques on the dorsa of the hands and feet, and also involving the wrists, forearms, elbows, and knees. Fibrous constricting bands (pseudoainhum) at the interphalangeal joints, which may lead to autoamputation. May also be associated with hearing loss of varying severity, cicatricial alopecia, ichthyosiform dermatosis, nail abnormalities, mental retardation, and spastic paraplegia or myopathy.

Evaluate the severity of pseudoainhum.

Careful perioperative installation is necessary to avoid further constriction and accidental finger amputation. Same remarks concerning use of digital sensor. Venous access on hands can be difficult.

Consider the benefit of using aminoglycosides in cases of incomplete deafness.

Bart-Pumphrey Syndrome: An inherited syndrome featuring knuckle pads, leukonychia, and sensorineural deafness.

Mutilating Keratoderma with Ichthyosis: This is a variant caused by mutation of the gene for loricrin, a component of the epidermal differentiation complex (EDC). The gene is located at 13q11-q12. Most prevalent during childhood. More than 200 cases have been reported. Characterized by transient, circumscribed, figurate erythematous patches, hyperkeratosis (yellow-brown and thickened plaques).

O'Driscoll J, Muston GC, McGrath JA, et al: A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol 27(3):243, 2002.
Peris K, Salvati EF, Torlone G, et al: Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. Br J Dermatol 132:617, 1995.  [PubMed: 7748756]
Vohwinkel KH; Keratoma hereditarium mutilans. Arch Dermatol Syph 158:354, 1929.

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