A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.
Australas J Dermatol
; 64(2): e165-e167, 2023 May.
Article
en En
| MEDLINE
| ID: mdl-36866916
We herein report a case of a 4-year-old Filipino girl initially seen through online consultation from a general physician. She was born to a 22-year-old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2 years old, she developed a solitary erythematous papule on the nasal area, which gradually enlarged within one year and developed into an exophytic ulcerating tumor extending to the right supra-alar crease. Xeroderma pigmentosum and squamous cell carcinoma were confirmed by whole-exome sequencing and skin biopsy, respectively.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Xerodermia Pigmentosa
/
Carcinoma de Células Escamosas
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Australas J Dermatol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Filipinas
Pais de publicación:
Australia