Three Successive Generations of Women with

We describe the findings of anhidrotic/hypohidrotic ecto-dermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia. Chromosomal studies revealed a defect of the 2q12 region in all three patients. Previous studies have reported rare cases of autosomal dominant ectodermal dysplasia associated with defects in the 2ql 1-13 regioni. These rare disorders are characterized by common anomalies of at least two elements of the ecto-derm and its appendages-namely, the skin, teeth, hair, nails and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth and recur-rent lung, ear and nose infections secondary to a defect in mucous membrane function. The majonty of reported cases of ectodermal dysplasias have historically been X-linked recessive, but our findings indicate that an autosomal ver-sion may be more prevalent than previously thought. Key words: ectodermal dysplasia * anhidrosis a hypodontia M chromosome 2q defec