A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al. 2003) and shown to be linked to chromosome 18. We identified a large, intragenic deletion in the desmoglein 4 gene (DSG4) as the underlying mutation in two unrelated families of Pakistani origin (Kljuic et al. 2003a). LAH is an autosomal recessive form of hypotrichosis affecting the scalp, trunk, and extremities, and largely sparing the facial, pubic, and axillary hair. Typical hairs are fragile and break easily, leaving short sparse scalp hairs with a characteristic appearance. Using comparative genomics, we also demonstrated that human LAH is allelic with the lanceolate hair (lah) mouse (Kljuic et al. 2003a), as well as the lanceolate hair (lah) rat phenotype (Jahoda et al. 2004). In order to expand the series of allelic mutations in the desmoglein 4 gene underlying LAH in humans, we begin molecular analysis of DSG4 in families from around the world. Here, we describe the study of a family of Pakistani origin with two siblings affected with LAH (Figure 1).