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.
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
Peris K, Salvati EF, Torlone G, et al: Keratoderma hereditarium mutilans
(Vohwinkel's syndrome) associated with congenital deaf-mutism.
Br J Dermatol
Vohwinkel KH; Keratoma hereditarium mutilans. Arch Dermatol Syph 158:354, 1929.