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Skinmed · 2023

Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia.

Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Lieberoth Sofie, Kumar Sheetal, Brusgaard Klaus, Ousager Lillian B, Betz Regina C, Bygum Anette

Аннотация

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).

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты