{"title":"阿曲汀治疗毛囊鱼鳞病伴脱发、恐光综合征伴伴掌跖角质炎。","authors":"Supriya Rajesh, Eswari Loganathan, Asha Gowrappala Shanmukhappa","doi":"10.4103/ijt.ijt_9_22","DOIUrl":null,"url":null,"abstract":"<p><p>Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome is a rare congenital genetic disorder characterized clinically by a triad of follicular ichthyosis, alopecia and photophobia. The genetic inheritance pattern in IFAP syndrome is said to be X-linked with mutations of the membrane-bound transcription factor peptidase, site 2 gene. Histopathology of the skin shows dilated hair follicles with keratin plugs extending above the surface of the skin. In this case report, we describe a 6-year-old girl with clinical features of IFAP along with palmoplantar keratoderma. Skin biopsy was done to confirm the diagnosis after which she was started on acitretin (10 mg per day). Good improvement in cutaneous features was observed after 1 month.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"14 6","pages":"213-215"},"PeriodicalIF":0.0000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10075349/pdf/","citationCount":"0","resultStr":"{\"title\":\"Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin.\",\"authors\":\"Supriya Rajesh, Eswari Loganathan, Asha Gowrappala Shanmukhappa\",\"doi\":\"10.4103/ijt.ijt_9_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome is a rare congenital genetic disorder characterized clinically by a triad of follicular ichthyosis, alopecia and photophobia. The genetic inheritance pattern in IFAP syndrome is said to be X-linked with mutations of the membrane-bound transcription factor peptidase, site 2 gene. Histopathology of the skin shows dilated hair follicles with keratin plugs extending above the surface of the skin. In this case report, we describe a 6-year-old girl with clinical features of IFAP along with palmoplantar keratoderma. Skin biopsy was done to confirm the diagnosis after which she was started on acitretin (10 mg per day). Good improvement in cutaneous features was observed after 1 month.</p>\",\"PeriodicalId\":14417,\"journal\":{\"name\":\"International Journal of Trichology\",\"volume\":\"14 6\",\"pages\":\"213-215\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10075349/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Trichology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/ijt.ijt_9_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Trichology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/ijt.ijt_9_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/31 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin.
Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome is a rare congenital genetic disorder characterized clinically by a triad of follicular ichthyosis, alopecia and photophobia. The genetic inheritance pattern in IFAP syndrome is said to be X-linked with mutations of the membrane-bound transcription factor peptidase, site 2 gene. Histopathology of the skin shows dilated hair follicles with keratin plugs extending above the surface of the skin. In this case report, we describe a 6-year-old girl with clinical features of IFAP along with palmoplantar keratoderma. Skin biopsy was done to confirm the diagnosis after which she was started on acitretin (10 mg per day). Good improvement in cutaneous features was observed after 1 month.