一个丹麦家族遗传性白甲病PLCD1新变异的鉴定。

Q4 Medicine
Skinmed Pub Date : 2023-01-01
Sofie Lieberoth, Sheetal Kumar, Klaus Brusgaard, Lillian B Ousager, Regina C Betz, Anette Bygum
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引用次数: 0

摘要

一名1岁的女孩,当她被转介到婴儿血管瘤咨询时,意外发现了瓷白色的指甲。她的家人说,她的指甲从出生起就是乳白色的,她父亲的手指和脚趾甲也是白色的。父亲记得,他这一边还有一些人的指甲都是白的;然而,他无法提供其他亲属受这种指甲异常影响的确切信息。该女孩和她的父亲是本研究中仅有的白色指甲的家庭成员(图1)。女孩仅在所有指甲上表现为全白甲,而她的父亲在所有手指和脚趾甲上都有这种异常(图2)。除了女孩的血管瘤外,我们不知道该家庭与其他疾病或特征有任何关联。(SKINmed。2023; 21:44-46)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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).

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来源期刊
Skinmed
Skinmed Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
99
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.
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