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This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.

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 review highlights the eye and skin manifestations of endocrine-related metabolic diseases but provides no new clinical results.

This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.

This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.