Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed ... Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed hair follicles without hair. Ahmad et al. (1993) pointed to the families reported by Tillman (1952) as probably representing the same disorder with autosomal recessive inheritance. They also referenced a boy described by Feinstein et al. (1987) whose normal parents were related as first cousins. Pinheiro and Freire-Maia (1985) described what they called 'recessive atrichia' in 2 brothers. It should be pointed out that monilethrix (158000) may be labeled alopecia universalis or alopecia congenita unless a few hairs are found and examined for the characteristic morphology by microscopy. Cantu et al. (1980) observed 2 families, each with 2 affected children, 3 girls and a boy. Scalp, eyelashes, eyebrows, and body hair were affected but not completely absent. Ahmad et al. (1998) studied a large Pakistani kindred with alopecia universalis segregating as a single mendelian abnormality without associated ectodermal defects and containing 4 affected males and 7 affected females. The affected individuals were in good general health, with no evidence for immune system dysfunction or unusual susceptibility to skin tumors. At birth, the hair usually appears normal on the scalp but never regrows after a ritual shaving, usually performed a week after birth. A skin biopsy from the scalp of an affected person revealed very few hair follicles, which were dilated and without hairs, and the absence of an inflammatory infiltrate. Affected individuals were born completely devoid of eyebrows and eyelashes and never developed axillary and pubic hair. The pedigree was strongly suggestive of autosomal recessive inheritance and the large number of consanguineous loops counted for all affected individuals being homozygous for the same abnormal allele.
Ahmad et al. (1998) identified a homozygous missense mutation in the HR gene (602302.0001) in affected members of a Pakistani kindred with alopecia universalis. Ahmad et al. (1998) reported that human 'hairless' encodes a putative single zinc finger ... Ahmad et al. (1998) identified a homozygous missense mutation in the HR gene (602302.0001) in affected members of a Pakistani kindred with alopecia universalis. Ahmad et al. (1998) reported that human 'hairless' encodes a putative single zinc finger transcription factor with restricted expression in the brain and skin.