Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Pediatr Dermatol
; 40(2): 333-336, 2023 Mar.
Article
em 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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Condrodisplasia Punctata
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Ictiose
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
México