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A young girl with curly hair

The clinical and microscopic features of her scalp hair were consistent with the diagnosis of generalised woolly hair. Woolly hair is a rare congenital structural abnormality of scalp hair characterised by severe kinkiness of hair involving part or entire scalp of non-negroid individuals as originally described by Gossage in 1907. Localised woolly hair (woolly hair nevus) is a usually benign condition of only cosmetic significance. Generalised woolly hair may be an isolated finding of cosmetic concern or a presenting sign of an underlying systemic disease (woolly hair syndrome). Woolly hair syndrome has two characteristic cardiological associations: Naxos disease and Carvajal-Huerta syndrome. Naxos disease, due to mutation of plakoglobin protein, is characterised by woolly hair, palmoplantar keratoderma and arrhythmogenic right ventricular cardiomyopathy. On the other hand, Carvajal-Huerta syndrome, having desmoplakin gene defects, usually presents at an earlier age, with predominantly left ventricular involvement, early morbidity and clinical features overlapping with dilated cardiomyopathy. Biventricular arrhythmogenic cardiomyopathy, not typical of either Naxos or Carvajal-Huerta syndrome has also been reported. Other syndromic associations of woolly hair includes woolly hair/hypotrichosis, ectodermal dysplasia-skin fragility (scalp woolly hair, sparse eyelashes and eyebrows, abnormal dental development and a desquamating erythematous rash), and tricho-hepato-enteric syndrome (severe infantile diarrhoea, failure to thrive, dysmorphism, immune or hepatic dysfunction and trichorrhexis nodosa). It is worth mentioning that every patient presenting with woolly hair should undergo extensive cardiological assessment to facilitate early diagnosis and prompt intervention, when necessary.