Article
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Pediatric dermatology - 1 Mar 2023
Del Río-Martínez Christopher Jesús, de León-Jiménez Beatriz, Ramos-Gómez Laura Isabel, Martinez Rebeca, Durán-Mckinster Carola, Tosti Antonella, Vázquez-Herrera Norma Elizabeth
Abstract excerpt
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...
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