Vohwinkel Syndrome 

  • Author: Zoltan Trizna, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 3, 2012
 

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 have also been described.[1, 2]

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.[3, 4, 5] 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.[6]

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Epidemiology

Frequency

International

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

Mortality/Morbidity

Patients with this syndrome may have a normal life span, persistent keratoderma, potential loss of digits, and hearing loss in the classic variant. Prenatal diagnosis by DNA analysis is possible if the gene defect is known.[7]

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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Contributor Information and Disclosures
Author

Zoltan Trizna, MD, PhD  Private Practice

Zoltan Trizna, MD, PhD is a member of the following medical societies: American Academy of Dermatology and Texas Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Renée R Snyder, MD  Dermatologist, Private Practice

Renée R Snyder, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Dayna Diven, MD  Professor, Department of Dermatology, University of Texas Southwestern Austin Programs

Dayna Diven, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Idaho Medical Association, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Abby S Van Voorhees, MD  Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania

Abby S Van Voorhees, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, National Psoriasis Foundation, Phi Beta Kappa, Sigma Xi, and Women's Dermatologic Society

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Merck Salary Management position; Abbott Honoraria Speaking and teaching; Amgen Honoraria Review panel membership; Centocor Honoraria Consulting; Leo Consulting; Merck None Other

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Mary Farley, MD  Dermatologic Surgeon/Mohs Surgeon, Anne Arundel Surgery Center

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References
  1. Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol. Jul 1994;131(1):1-14. [Medline].

  2. ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J. Dec 10 2006;12(7):10. [Medline].

  3. Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Acta Derm Venereol. 2006;86(6):503-8. [Medline].

  4. Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet. Jun 2000;8(6):469-72. [Medline].

  5. Solis RR, Diven DG, Trizna Z. Vohwinkel's syndrome in three generations. J Am Acad Dermatol. Feb 2001;44(2 Suppl):376-8. [Medline].

  6. Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet. Jan 2008;73(1):85-8. [Medline].

  7. White TW. Functional analysis of human Cx26 mutations associated with deafness. Brain Res Brain Res Rev. Apr 2000;32(1):181-3. [Medline].

  8. Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F. A new variant of Vohwinkel syndrome: a case report. Dermatol Online J. Mar 15 2011;17(3):3. [Medline].

  9. Camisa C, Rossana C. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. Arch Dermatol. Oct 1984;120(10):1323-8. [Medline].

  10. Spitz JL. Genodermatoses: A Clinical Guide to Genetic Skin Disorders. 2nd ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2004.

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Starfish-shaped plaques.
Palmar hyperkeratosis.
Pseudoainhum.
 
 
 
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