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Pediatr Dermatol ; 40(2): 333-336, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36263758

RESUMEN

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.


Asunto(s)
Condrodisplasia Punctata , Ictiosis , Anomalías Cutáneas , Femenino , Humanos , Preescolar , Alopecia/diagnóstico , Alopecia/genética , Mutación , Condrodisplasia Punctata/diagnóstico , Condrodisplasia Punctata/genética
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