Homocystinuria is a disorder of methionine metabolism leading to abnormal accumulation of homocysteine and its metabolites in blood and urine. This condition presents with a wide range of cutaneous and systemic features. This case report focuses on the particular cutaneous finding of silvery hair in this patient and its examination under a microscope that reveals an unusual and not yet reported finding of melanin clumps. Melanin clumps in association with silvery hair have until now been found in very few rare syndromes, and their finding in homocystinuria makes it a novel phenotypic feature for its utilisation in the upcoming times for better patient diagnosis and management.
Keywords: Congenital disorders; Dermatology; Genetic screening / counselling.
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