Vohwinkel Syndrome
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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
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]
Causes of the two types are as follows:
Ichthyosis-associated type – Insertional mutation of the loricrin gene
Hearing loss–associated type – Missense mutation of the connexin-26 gene [6]
The syndrome is rare, with fewer than 30 cases reported.
No racial predominance is noted.
No sex predominance is reported.
This syndrome usually manifests between infancy and early childhood.
The prognosis is good as long as medications are used. 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. [9]
Tailor patient education to the course and complications.
Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol. 1994 Jul. 131(1):1-14. [Medline].
ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J. 2006 Dec 10. 12(7):10. [Medline].
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F. A new variant of Vohwinkel syndrome: a case report. Dermatol Online J. 2011 Mar 15. 17(3):3. [Medline].
Avshalumova L, Fabrikant J, Koriakos A. Overview of skin diseases linked to connexin gene mutations. Int J Dermatol. 2014 Feb. 53 (2):192-205. [Medline].
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].
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. 2000 Jun. 8(6):469-72. [Medline].
Solis RR, Diven DG, Trizna Z. Vohwinkel’s syndrome in three generations. J Am Acad Dermatol. 2001 Feb. 44(2 Suppl):376-8. [Medline].
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. 2008 Jan. 73(1):85-8. [Medline].
White TW. Functional analysis of human Cx26 mutations associated with deafness. Brain Res Brain Res Rev. 2000 Apr. 32(1):181-3. [Medline].
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F. A new variant of Vohwinkel syndrome: a case report. Dermatol Online J. 2011 Mar 15. 17(3):3. [Medline].
Mercy P, Singh A, Ghorpade AK, Das MN, Upadhyay A, Keswani N. Vohwinkel syndrome with mental retardation. Indian J Dermatol Venereol Leprol. 2013 Sep-Oct. 79(5):725. [Medline].
Corte LD, Silva MV, Oliveira CF, Vetoratto G, Steglich RB, Borges J. Vohwinkel syndrome, ichthyosiform variant–by Camisa–case report. An Bras Dermatol. 2013 Nov-Dec. 88(6 Suppl 1):206-8. [Medline]. [Full Text].
Camisa C, Rossana C. Variant of keratoderma hereditaria mutilans (Vohwinkel’s syndrome). Treatment with orally administered isotretinoin. Arch Dermatol. 1984 Oct. 120(10):1323-8. [Medline].
Nico MMS, Fernandes JD. Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Dtsch Dermatol Ges. 2017 Jun. 15 (6):665-667. [Medline].
Spitz JL. Genodermatoses: A Clinical Guide to Genetic Skin Disorders. 2nd ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2004.
Zoltan Trizna, MD, PhD Private Practice
Zoltan Trizna, MD, PhD is a member of the following medical societies: Texas Medical Association
Disclosure: Nothing to disclose.
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 Medical Association, Texas Dermatological Society
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, Phi Beta Kappa
Disclosure: Nothing to disclose.
Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology
Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association
Disclosure: Nothing to disclose.
Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.
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, Women’s Dermatologic Society, National Psoriasis Foundation, American Medical Association, Phi Beta Kappa, Sigma Xi
Disclosure: Received honoraria from Amgen for consulting; Received honoraria from Abbott for consulting; Partner received salary from Merck for management position; Received honoraria from Abbott for speaking and teaching; Received honoraria from Amgen for review panel membership; Received honoraria from Centocor for consulting; Received honoraria from Leo for consulting; Received none from Merck for other.
Mary Farley, MD Dermatologic Surgeon/Mohs Surgeon, Anne Arundel Surgery Center
Disclosure: Nothing to disclose.
Vohwinkel Syndrome
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