Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Sep-Oct;93(5):723-725.
doi: 10.1590/abd1806-4841.20187440.

Vohwinkel syndrome: ichthyosiform variant in a family

Clarissa Prieto Herman Reinehr  1 , Juliano Peruzzo  2 , Tania Cestari  2
Affiliations
Case Reports

Vohwinkel syndrome: ichthyosiform variant in a family

Clarissa Prieto Herman Reinehr et al. An Bras Dermatol. 2018 Sep-Oct.

Abstract

Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: None.

Figures

Figure 1
Figure 1
Heredogram: family members affected by the syndrome are represented by rectangles (men) or black circles (women). The patient is identified by the black arrow
Figure 2
Figure 2
Patient presenting fine scales throughout body surface (A, B)
Figure 3
Figure 3
Patient with transgredient palmoplantar hyperkeratosis and some palmar fissures (A, B, C)
Figure 4
Figure 4
Patient's mother presenting digital constrictive bands (pseudoainhum)
See this image and copyright information in PMC

References

    1. Cavalcante LIS, Almeida TLP, Holanda EM, Accioly-Filho JW. Vohwinkel´s mutilating keratoderma: report of three familial cases. An Bras Dermatol. 2003;78:311–318.
    1. Corte LD, Silva MV, Oliveira CF, Vetoratto G, Steglich RB, Borges J. Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report. An Bras Dermatol. 2013;88:206–208. - PMC - PubMed
    1. Al Aboud K, Al Hawsawi K, Ramesh V. Bilateral Pseudoainhum in Lammelar Ichthyosis. Pediatr Dermatol. 2004;21:181–181. - PubMed
    1. O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002;27:243–246. - PubMed
    1. Ishida-Yamamoto A. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci. 2003;31:3–8. - PubMed

Publication types

Supplementary concepts

LinkOut - more resources