Woolly Hair with Varied Phenotypic Presentations in Siblings – A Rare Diagnostic Entity Aided by Trichoscopy

Abstract Woolly hair is an uncommon congenital condition affecting the structure of scalp hair. It is characterized by tightly coiled hair, which can affect a small area or cover the entire scalp in individuals of non-Negroid origin. This condition may appear in isolation or be associated with other clinical features. When woolly hair is accompanied by palmoplantar keratoderma, it may indicate a serious underlying condition, such as cardiomyopathy, and requires immediate cardiovascular assessment. Isolated or localized woolly hair is typically benign, with no known systemic associated complications. However, in cases of generalized woolly hair, there is an increased risk of accompanying systemic disorders affecting various organs, including the heart, skin, liver, and gastrointestinal system. Syndromes such as Naxos syndrome, Carvajal-Huerta syndrome, woolly hair/hypotrichosis, ectodermal dysplasia-skin fragility syndrome, and tricho-hepato-enteric syndrome are known to present with woolly hair.