CLINICAL PRESENTATION OF AN EXTENDED CONSANGUINEOUS FAMILY INHERITING WOOLLY HAIR HYPOTRICHOSIS

Abstract

Hypotrichosis is a hair-loss condition that is characterized by sparse hair on scalp, reduced to absent eyebrows and eyelashes. This report is presented of a D.I.Khan, Pakistan based family with multiple patients showing typical phenotype of Woolly Hair Hypotrichosis. All patients in the current family had fragile, thin, brown coloured wooly hair on the head scalp. They had sparse eyebrows but revealed normal eyelashes. Apart from hair phenotype, patients did not exhibit any abnormal features of skin and nail. Herein the shown family tree, each square and circle represent male and female person, respectively. Blacked filled symbols of male and female represent patients, while unfilled square and circle depict normal individuals. Double line, across the square and circle, shows the consanguineous marriage. Roman numbers designate generation ID, while Arabic numbers within the generation indicate” individual ID. Pedigree analysis indicate that parents of all patients have first degree consanguinity, and segregation disease in autosomal recessive fashion.