Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia.
Skinmed
; 21(1): 44-46, 2023.
Article
en En
| MEDLINE
| ID: mdl-36987828
ABSTRACT
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;2144-46).
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemangioma
/
Enfermedades de la Uña
/
Uñas Malformadas
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Skinmed
Asunto de la revista:
DERMATOLOGIA
Año:
2023
Tipo del documento:
Article