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In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.