Early Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata)

Conradi-Hünermann-Happle syndrome (CHHS) is a rare X-linked dominant disorder caused by variants in the EBP gene, affecting cholesterol biosynthesis. It is characterized by ichthyosis, skeletal dysplasia, and congenital cataracts, with scarring alopecia also possible. A case study of a newborn female with CHHS highlighted the importance of early skin biopsy, performed within 12 hours of birth, to identify unique histopathologic features such as dystrophic calcifications in keratotic follicular plugs. These features resolve spontaneously within weeks, making early biopsy crucial for diagnosis. Genetic testing confirmed the EBP gene variant, and the infant's skin normalized by six weeks. The study emphasizes the value of early biopsy alongside genetic testing for diagnosing rare genodermatoses like CHHS.