A rare case of Vohwinkel’s syndrome

Keratoderma hereditarium mutilans or Vohwinkel’s syndrome is a rare autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to auto-amputation and stellate keratosis on knuckles. It’s mode of inheritance is autosomal dominant with mutation in loricrin and connexin 26 genes. We report the case of a 35-year-old female with alopecia universalis since birth and transgradient palmoplantar keratoderma, impaired hearing and pseudoainhum formation since childhood. This case is being reported to highlight the association of Vohwinkel’s syndrome with sensorineural hearing loss and alopecia universalis.

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Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20132135 ◽

2013 ◽

Vol 88 (6 suppl 1) ◽

pp. 206-208 ◽

Cited By ~ 5

Author(s):

Liliam Dalla Corte ◽

Mariana Vale Scribel da Silva ◽

Carina Flores de Oliveira ◽

Gerson Vetoratto ◽

Raquel Bissacotti Steglich ◽

...

Keyword(s):

Case Report ◽

Rare Case ◽

White Women ◽

Autosomal Dominant ◽

Connexin 26 ◽

Palmoplantar Keratosis ◽

Hands And Feet ◽

Mode Of Inheritance

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. 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.

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Autosomal Dominant Type II Osteopctrosis in an Asymptomatic Adolescent: A Case Report

TAJ Journal of Teachers Association ◽

10.3329/taj.v22i2.37736 ◽

2009 ◽

Vol 22 (2) ◽

pp. 251-254

Author(s):

MA Haque ◽

LS Sharmin ◽

I Mahmood ◽

MH Rahman ◽

D Huda

Keyword(s):

Case Report ◽

Bone Resorption ◽

Autosomal Dominant ◽

Heterogeneous Group ◽

Type Ii ◽

Dominant Type ◽

Variable Expression ◽

Variable Mode ◽

Autosomal Dominant Type ◽

Mode Of Inheritance

Osteopetrosis is a heterogeneous group of heritable conditions in which there is a defect in bone resorption by osteoclasts. The disease has variable mode of inheritance with variable expression of severity. We are reporting a 14 year old asymptomatic girl with autosomal dominant type II osteopetrosis and then the literature is reviewed.TAJ 2009; 22(1): 251-254

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Polycystic Kidney Disease, Autosomal Dominant Type

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-60327-161-5_150 ◽

2007 ◽

pp. 797-802

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Dominant Type ◽

Autosomal Dominant Type

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Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_1050 ◽

2009 ◽

pp. 1179-1180

Author(s):

Alexander K. C. Leung ◽

William Lane M. Robson ◽

Carsten Büning ◽

Johann Ockenga ◽

Janine Büttner ◽

...

Keyword(s):

Muscular Dystrophy ◽

Autosomal Dominant ◽

Limb Girdle Muscular Dystrophy ◽

Dominant Type ◽

Autosomal Dominant Type

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Punctate Calcification Group

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0010 ◽

2018 ◽

pp. 351-378

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Chondrodysplasia Punctata ◽

Limb Defects ◽

Dominant Type ◽

Radiographic Features ◽

Keutel Syndrome ◽

Punctate Calcification ◽

Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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