Sofie Lieberoth, Sheetal Kumar, Klaus Brusgaard, Lillian B Ousager, Regina C Betz, Anette Bygum
{"title":"一个丹麦家族遗传性白甲病PLCD1新变异的鉴定。","authors":"Sofie Lieberoth, Sheetal Kumar, Klaus Brusgaard, Lillian B Ousager, Regina C Betz, Anette Bygum","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A 1-year-old girl presented with porcelain white fingernails, accidentally discovered when she was referred for an infantile hemangioma consultation. The family reported that the nails had been milky white since birth and her father had similar white finger and toenails. The father remembered that additional family members on his side of the family presented with white nails; however, he could not provide exact information about the number of other relatives affected by this nail abnormality. The girl and her father were the only available family members with white nails presented for this study (Figure 1). The girl presented with leukonychia totalis on all fingernails only, while the father had this abnormality on all finger and toenails (Figure 2). We were not aware of any association with other diseases or features in this family, except hemangioma in the girl. (<i>SKINmed</i>. 2023;21:44-46).</p>","PeriodicalId":21891,"journal":{"name":"Skinmed","volume":"21 1","pages":"44-46"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of a Novel <i>PLCD1</i> Variant in a Danish Family with Hereditary Leukonychia.\",\"authors\":\"Sofie Lieberoth, Sheetal Kumar, Klaus Brusgaard, Lillian B Ousager, Regina C Betz, Anette Bygum\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 1-year-old girl presented with porcelain white fingernails, accidentally discovered when she was referred for an infantile hemangioma consultation. The family reported that the nails had been milky white since birth and her father had similar white finger and toenails. The father remembered that additional family members on his side of the family presented with white nails; however, he could not provide exact information about the number of other relatives affected by this nail abnormality. The girl and her father were the only available family members with white nails presented for this study (Figure 1). The girl presented with leukonychia totalis on all fingernails only, while the father had this abnormality on all finger and toenails (Figure 2). We were not aware of any association with other diseases or features in this family, except hemangioma in the girl. (<i>SKINmed</i>. 2023;21:44-46).</p>\",\"PeriodicalId\":21891,\"journal\":{\"name\":\"Skinmed\",\"volume\":\"21 1\",\"pages\":\"44-46\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Skinmed\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Skinmed","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia.
A 1-year-old girl presented with porcelain white fingernails, accidentally discovered when she was referred for an infantile hemangioma consultation. The family reported that the nails had been milky white since birth and her father had similar white finger and toenails. The father remembered that additional family members on his side of the family presented with white nails; however, he could not provide exact information about the number of other relatives affected by this nail abnormality. The girl and her father were the only available family members with white nails presented for this study (Figure 1). The girl presented with leukonychia totalis on all fingernails only, while the father had this abnormality on all finger and toenails (Figure 2). We were not aware of any association with other diseases or features in this family, except hemangioma in the girl. (SKINmed. 2023;21:44-46).
期刊介绍:
SKINmed is a peer-reviewed bimonthly publication circulated to more than 28,000 dermatologists, allergists, internists, pediatricians, and family practitioners with an interest in dermatology and allergy. SKINmed features articles, original papers, and case studies concerning clinical aspects of dermatology, including dermatopathology, diagnostics, occupational dermatology, malignancy/tumors, cosmetic dermatology, endocrine diseases, infestations, infections, and pharmacotherapy.