Non-syndromic woolly hair in a child
How to cite this article: Somasundaram A, Aithal S. Non-syndromic woolly hair in a child. CosmoDerma 2023;3:119.
A 6-year-old female child accompanied by her mother presented with complaints of progressive curling of scalp hair since 1 year of life. The child was born of a non-consanguineous marriage with no known or distant African ancestry. There was no family history of similar complaints. The child was otherwise systemically well. On examination, the hair all over the scalp was found to be brown, sparse, unruly, frizzy, short, curly, and brittle suggestive of woolly hair [Figure 1a and b]. The child did not have palmoplantar keratoderma. The rest of the cutaneous and mucosal examination was noncontributory. The child did not have any dental, ocular, or skeletal abnormalities. Echocardiography was done which did not reveal any evidence of cardiomyopathy. Hence, a clinical diagnosis of a non-syndromic variant of woolly hair was considered, and further, confirmation by genetic testing was advised; however, mother wanted to get it done at a later date.
Woolly hair can be a manifestation of a systemic disease (syndromic) or in the absence of systemic findings (non-syndromic). Three types described in the literature include autosomal dominant (hereditary woolly hair), autosomal recessive, and localized woolly hair nevus. Characteristic associations include Naxos disease and Carvajal syndrome presenting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoderma. Woolly hair has also been associated with enamel hypoplasia, ocular defects, deafness and ichthyosis vulgaris, keratosis pilaris atrophicans, and Noonan syndrome. Visually identifying this entity is important to rule out associations and manage the child accordingly.
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