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Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings
Christopher Jesús Del Río-Martínez1, Beatriz de León-Jiménez1, Laura Isabel Ramos-Gómez1
1Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico.
Pediatric Dermatology
|October 20, 2022
Summary
Conradi-Hünermann-Happle syndrome (CHHS), a rare genodermatosis caused by EBP gene mutations, presents with distinct skin and hair issues. This report details trichoscopic findings in a child, enhancing diagnostic understanding of CHHS pathophysiology.
Area of Science:
- Dermatology
- Genetics
Background:
- Conradi-Hünermann-Happle syndrome (CHHS) is a rare genodermatosis.
- It results from mutations in the emopamil binding protein (EBP) gene.
- Dermatologic manifestations include cicatricial alopecia, ichthyosis, follicular atrophoderma, pigmentary abnormalities, and nail dystrophy.
Observation:
- This case report focuses on a 3-year-old girl diagnosed with CHHS.
- The report details specific trichoscopic findings observed in the patient.
Findings:
- Trichoscopic findings can significantly aid in the diagnosis of CHHS.
- These findings provide insights into the underlying pathophysiology of the condition.
Implications:
- Understanding trichoscopic findings improves CHHS diagnosis and management.
- This research contributes to the knowledge of genodermatoses and their clinical presentation.
