Made available in DSpace on 2015-04-14T13:35:32Z (GMT). No. of bitstreams: 1 438475.pdf: 1199552 bytes, checksum: 11115a2a9f4a42a185a775b4a566fe5b (MD5) Previous issue date: 2012-03-02 / ADULT (acro-dermato-ungueal-tooth) is a human genetic syndrome that manifests clinically by skin and embryonic appendages anomalies. This syndrome pathogenesis was first identified in 2001, but nowadays it is related to more than one mutation in p63 gene. Although described almost 20 years ago (1993) in Germany, this syndrome still have few reports and this is the first brazilian family. We report here the clinical aspects of five members of a family which clinical features corresponded to phenotypic ADULT manifestations. The clinical aspects included athelia/hypotelia, photosensitivity, dystophic nails, tooth anomalies and lacrimal duct obstruction. The adermatoglyphia, manifestation found in all affected members of this family, was not described before. The histologic examination demonstrated flattening of dermal papillae and electron microsopy showed disrupted collagen fibers. The genetic sequencing of blood ssample found a mutation in p63 gene, already known as R298Q. / A ADULT (acro-dermato-ungueal-lacrimal-tooth) ? uma s?ndrome gen?tica humana que se manifesta clinicamente por altera??es cut?neas e do desenvolvimento dos ap?ndices embrion?rios. Sua etiologia foi identificada inicialmente em 2001, mas atualmente sabe-se que est? relacionada a mais de uma muta??o no gene p63. Apesar de descrita pela primeira vez h? quase duas d?cadas (1993) na Alemanha, a s?ndrome ainda ? pouco reportada e esta ? a primeira fam?lia brasileira descrita. Neste trabalho descrevemos os aspectos cl?nicos de cinco indiv?duos de uma mesma fam?lia, os quais apresentavam manifesta??es fenot?picas compat?veis com a s?ndrome ADULT. Os achados cl?nicos incluem atelia/hipotelia, fotossensibilidade, distrofia ungueal, anormalidades dent?rias e obstru??o do ducto lacrimal. A adermatoglifia, manifesta??o cl?nica demonstrada em todos os acometidos desta fam?lia, n?o fora descrita anteriormente nos portadores da s?ndrome. A avalia??o histol?gica por microscopia ?ptica evidenciou retifica??o das papilas d?rmicas e a an?lise por microscopia eletr?nica mostrou altera??o nas fibras col?genas da derme. O sequenciamento gen?tico atrav?s de amostras de sangue perif?rico identificou uma muta??o no gene p63, previamente conhecida como R298Q.