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Case Reports
. 2016 Oct-Dec;8(4):168-170.
doi: 10.4103/0974-7753.203175.

Olmsted Syndrome in a Family

Rajyalaxmi Konathan  1 , Sainath Kumar Alur  1
Affiliations
Case Reports

Olmsted Syndrome in a Family

Rajyalaxmi Konathan et al. Int J Trichology. 2016 Oct-Dec.

Abstract

Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. We report three cases of OS, two females and one male in the same family, who presented with palmoplantar keratoderma, sparse scalp hair, cheilitis, and periorificial fissures. We are reporting the cases due to the rarity of occurrence and to highlight the trichoscopy findings.

Keywords: Family; Olmsted syndrome; palmoplantar keratoderma.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Palmoplantar keratoderma
Figure 2
Figure 2
Clinical photograph of palmoplantar keratoderma
Figure 3
Figure 3
Scalp showing sparse hair with keratotic papule and follicular prominences
Figure 4
Figure 4
Trichoscopy findings of “V” shaped hair, broken hair, black dots, yellow dots, and follicular prominences
See this image and copyright information in PMC

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