Vohwinkel Syndrome

Updated: Jan 08, 2016
  • Author: Zoltan Trizna, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Overview

Background

In 1929, Vohwinkel first described this syndrome in a 24-year-old woman who, since age 2 years, had a diffuse honeycombed palmar and plantar keratosis, in addition to distal interphalangeal creases. The constrictions ultimately led to autoamputation. The daughter of this patient experienced similar clinical lesions.

Pseudoainhum is the autoamputation of any digit secondary to keratodermas and other causes. In contrast, ainhum is the posttraumatic or postinfectious development of constricting bands of the digits resulting in autoamputation. Several categories can be distinguished, as follows:

  • Ainhum (dactylolysis spontanea): Ainhum is spontaneous autoamputation of the fifth toe, predominantly affecting blacks in tropical climates. This form most likely is posttraumatic or postinfectious in nature and is uncommon in the United States.
  • Congenital annular constricting bands
  • Autoamputation of traumatic origin, including self-mutilation and mechanical factors, frostbite, and burns
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Pathophysiology

Vohwinkel syndrome belongs to the group of palmoplantar keratodermas. It is considered to have an autosomal dominant inheritance, although sporadic cases [1, 2] and a case of probable autosomal recessive inheritance [3] have also been described.

Connexins 26, 30, 30.3, 31, and 43 are related to cutaneous diseases associated with multiple organ involvement. Mutations in connexin 26 are linked to Vohwinkel syndrome, keratitis-ichthyosis deafness and hystrixlike ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. [4]

Two mutations of the epidermal differentiation complex have been identified in Vohwinkel syndrome.

One is a missense mutation of the GJB2 gene coding connexin-26, a gap junction protein. [5, 6, 7] This mutation on chromosome 13 is associated with the classic (hearing loss–associated) Vohwinkel syndrome. Connexins are building blocks of gap junctions that are plasma membrane complexes facilitating and regulating the passage of small molecules between cells. Several other rare mutations have also been described.

Another mutation is an insertional mutation of the loricrin gene on the epidermal differentiation complex on 1q21. This protein plays a major function in the formation of the cornified cell envelope. Sequential deposition of altered loricrin during terminal differentiation of keratinocytes and other components causes an increase in envelope thickness and rigidity. A phenotype associated with ichthyosis and not deafness is observed.

An ichthyotic variant has been described with a 730insG mutation. [8]

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Epidemiology

Frequency

The syndrome is rare, with fewer than 30 cases reported.

Race

No racial predominance is noted.

Sex

No sex predominance is reported.

Age

This syndrome usually manifests between infancy and early childhood.

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