woolly hair, autosomal recessive 2, with or without hypotrichosis Shimomura et al. (2009) studied 11 consanguineous Pakistani families with woolly hair and/or hypotrichosis in whom homozygosity for mutations in the LIPH gene were identified (see MOLECULAR GENETICS). The 11 families showed a wide variation in phenotype, ranging from woolly hair to sparse hair between families and even within a single family, although all affected individuals had slow hair growth that stopped at a few inches. The woolly hair of some individuals was light-colored compared to the dark brown/black hair typical in this population. Facial and body hair was normal in patients with woolly hair, whereas eyebrows, eyelashes, and body hair were sparse in the patients with hypotrichosis. Affected individuals from all 11 families had normal teeth, nails, and sweating, did not display palmoplantar hyperkeratosis, and had no family history of heart disease, cancers, or neurologic abnormalities. ARWH2 Hannah McLaren OMIM:604379 Isolated hair shaft abnormality