| CASE REPORT |
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| Year : 2016 | Volume
: 8
| Issue : 4 | Page : 168-170 |
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Olmsted syndrome in a family
Rajyalaxmi Konathan, Sainath Kumar Alur
Department of Dermatology, Central Hospital, Secunderabad, Telangana, India
Correspondence Address:
Rajyalaxmi Konathan
Department of Dermatology, Central Hospital, Secunderabad, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0974-7753.203175
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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. |
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