RESUMO
The ectodermal dysplasias are a complex, heritable group of syndromes that affect derivatives of ectoderm. The dermatologist plays an important role in ectodermal dysplasias as the visible defects of skin, hair, and nails are often recognized first. Our objective was to examine how quality of life relates to the degree of skin involvement in ectodermal dysplasias. Subjects (n = 42) with ectodermal dysplasias were surveyed at national and regional conferences hosted by National Foundation for Ectodermal Dysplasias on July 26 to 28, 2007 and November 17, 2007. Severity of hypohidrosis, alopecia, and fingernail involvement were measured using validated Likert scales. The quality of life was measured using the Children's Dermatology Life Quality Index in children, and the Skindex-29 and RAND Short Form-36 in adults. The severity for all subjects (n = 42) was greatest for hypohidrosis, which clinically translated into "little ability to sweat." We found that the greatest impact on quality of life was related to the actual symptoms of ectodermal dysplasias, which is not surprising as almost all participants reported skin involvement (93%), most likely related to hypohidrosis, atopic dermatitis, skin erosions and infections. The symptoms of ectodermal dysplasias may also be related to the nail involvement, as manifested by dystrophic or fragmented nails. Alopecia did not play a significant role in the quality of life burden. The challenge of providing proper skin care emphasizes the benefit of dermatologic involvement, and the need for increased recognition and enhanced awareness of the cutaneous burden in ectodermal dysplasias.