Konathan Rajyalaxmi, Alur Sainath Kumar
Department of Dermatology, Central Hospital, Secunderabad, Telangana, India.
Int J Trichology. 2016 Oct-Dec;8(4):168-170. doi: 10.4103/0974-7753.203175.
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.
奥姆斯特德综合征（OS）是一种罕见的疾病，其特征为口周、角化性斑块以及双侧掌跖角化病同时出现。同义词为伴有口周角化性斑块的致残性掌跖角化病（ORPHA659，MIM #614594和#300918）。此条目使用数字符号（#）是因为有证据表明，伴有口周角化性斑块的致残性掌跖角化病（OS）是由17号染色体p13.2区域TRPV3基因的杂合突变引起的。我们报告了3例OS病例，为同一家庭中的2名女性和1名男性，他们均表现为掌跖角化病、头皮毛发稀疏、唇炎和口周皲裂。由于该病发病率低，且为突出毛发镜检查结果，我们特此报告这些病例。
