A five year old male presented with progressive curling of scalp hair since one year of age. It was a full term product of a non consanguineous marriage with no known or distant African ancestary. Child had a normal motor development; however, speech was delayed and he encountered learning difficulties once he was admitted to school at the age of three years. None of the other family members had similar hair type.

On examination, the hair all over the scalp were found to be tightly coiled (curl diameter being ~ .5 cm), thin, dry, brittle, hypopigmented and sparse. The eyebrows were also sparse (Fig. 1). Underlying scalp was normal. Nutritional status was normal. Other ectodermal tissues viz. nails, skin, eye were normal. There was no other apparent congenital abnormality. Systemic examination was normal. Microscopic examination of hair revealed axial rotation of hair shaft. Echocardiography did not reveal any evidence of cardiomyopathy.

Fig. 1 Close up of scalp showing sparse, hypopigmented and tightly coiled hair. Also note the sparse eyebrows.

Woolly hair syndrome is a rare congenital abnormalities of scalp hair described in Asian and Caucasians. It is characterized by tightly coiled hair involving the entire or part of scalp in an individual of non Negroid origin. It manifests either at birth or appears in the first few years of life(1,2). Microscopically the hair shaft exhibits an elliptical cross-section, an axial rotation of 180º on its axis and kinking.

Body hair is generally not affected in autosomal dominant variety but is short, light, relatively sparse and rarefied in autosomal recessive type(3). Eyebrows may also be involved. Woolly hair may be associated with palmoplantar keratoderma (Naxos disease) or cardiomyopathy (Carvajal Syndrome)(4).

Our patient presented with woolly hair after infancy along with sparse body hair, speech delay and learning difficulties. There are very few case reports of woolly hair from India(1,2). No effective treatment is available.