Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Pediatr Dermatol
; 40(2): 333-336, 2023 Mar.
Article
en En
| MEDLINE
| ID: mdl-36263758
ABSTRACT
Conradi-Hünermann-Happle syndrome (CHHS) is a rare genodermatosis resulting from mutations in the EBP (emopamil binding protein) gene. Dermatologic manifestations may include cicatricial alopecia, ichthyosis, follicular atrophoderma, pigmentary abnormalities, and nail dystrophy. In addition to genetic testing and clinical findings, trichoscopic findings may aid in the diagnosis. In this case report, we discuss the trichoscopic findings in a 3-year-old girl with CHHS and how these findings help us understand the pathophysiology of this disease.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Cutáneas
/
Condrodisplasia Punctata
/
Ictiosis
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2023
Tipo del documento:
Article
País de afiliación:
México