Conradi-Hünermann-Happle syndrome with minimal signs.
Pediatr Dermatol
; 38(6): 1592-1593, 2021 Nov.
Article
en En
| MEDLINE
| ID: mdl-34749431
ABSTRACT
A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías Cutáneas
/
Condrodisplasia Punctata
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
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Female
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2021
Tipo del documento:
Article
País de afiliación:
España