Vohwinkel syndrome

Deafness, congenital, with keratopachydermia and constrictions of fingers and toes

Also Known As:

Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes; Keratoderma hereditarium mutilans; Mutilating keratoderma; Palmoplantar Keratoderma Mutilans; Palmoplantar Keratoderma Mutilans Vohwinkel; Ppk Mutilans Vohwinkel

Networked: 23 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Skin Diseases (Skin Disease)
2.	Keratitis
3.	Ichthyosis (Xeroderma)
4.	Deafness (Deaf Mutism)
5.	Hearing Loss (Hearing Impairment)

Experts

1.	Aasen, Trond: 2 articles (07/2003 - 07/2003)
2.	Bakirtzis, George: 2 articles (07/2003 - 07/2003)
3.	Bryson, Sheila: 2 articles (07/2003 - 07/2003)
4.	Finbow, Malcolm: 2 articles (07/2003 - 07/2003)
5.	Forrow, Stephen: 2 articles (07/2003 - 07/2003)
6.	Greenhalgh, David: 2 articles (07/2003 - 07/2003)
7.	Hodgins, Malcolm: 2 articles (07/2003 - 07/2003)
8.	Tetley, Laurence: 2 articles (07/2003 - 07/2003)
9.	Albuloushi, Ahmad: 1 article (10/2020)
10.	Lovgren, Marie-Louise: 1 article (10/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Vohwinkel syndrome:

1.	ConnexinsIBA 01/01/2023 - "However, its role in Vohwinkel syndrome in relation to the gap junction protein beta 2 (GJB2) mutation is still unclear. " 01/01/2023 - "Her clinical features are instead consistent with overlapping phenotypes of gap junction protein beta 2-related connexin disorders: Vohwinkel syndrome and Bart-Pumphrey syndrome. " 11/01/2004 - "The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. " 02/01/2001 - "The mutilating keratoderma associated with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26). " 04/01/2013 - "To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome. "
2.	loricrinIBA 01/01/2008 - "De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma." 05/01/2002 - "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome." 01/01/2015 - "Features of this phenotype, including nuclear loricrin localization and pseudoainhum (autoamputation), are characteristic of the Vohwinkel syndrome. " 06/01/2011 - "PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. A mutation in the loricrin gene (LOR) was found in patients with PSEK, who were members of a family with Vohwinkel syndrome. " 12/01/2000 - "We have recently identified heterozygous loricrin gene mutations in two dominantly inherited skin diseases, the ichthyotic variant of Vohwinkel syndrome and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma. "
3.	Connexin 26IBA 01/01/2016 - "A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome ." 03/01/2010 - "Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations." 07/15/2003 - "From soon after birth, the mice exhibited a keratoderma similar to that in humans carrying the Connexin 26(D66H) mutation (true Vohwinkel syndrome). " 10/01/2020 - "Mutations in GJB2 encoding Connexin 26 (CX26) are associated with hearing loss and hyperproliferative skin disorders of differing severity including keratitis-ichthyosis-deafness (KID) and Vohwinkel syndrome. " 02/01/2014 - "Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. "
4.	Proteins (Proteins, Gene)FDA Link 03/01/2008 - "Using fluorescent connexin fusion proteins, we show that the mutation induces a transport defect similar to that found for the Vohwinkel syndrome mutation p.Asp66His. " 10/16/2000 - "Mutations in the cornified cell envelope protein loricrin have been reported recently in some patients with Vohwinkel syndrome (VS) and progressive symmetric erythrokeratoderma (PSEK). "
5.	Keratin-10IBA 07/01/2003 - "To elucidate the mode of action of dominant mutant connexins in causing inherited skin diseases, transgenic mice were produced that express the true Vohwinkel syndrome-associated mutant Cx26 (D66H), from a keratin 10 promoter, specifically in the suprabasal epidermal keratinocytes. "
6.	Acitretin FDA Link 01/01/2006 - "Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin."
7.	Isotretinoin (Accutane)FDA LinkGeneric 11/01/2017 - "Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin."
8.	Etretinate FDA Link 10/01/1985 - "Mutilating keratoderma of Vohwinkel: successful treatment with etretinate."

Therapies and Procedures

Surgical Amputation (Amputations)

11/01/2013 - "The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome. "
01/01/2007 - "Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of large joints. "