Síndrome ADULT: descrição clínica de cinco membros da mesma família, aspectos histológicos e investigação de mutação genética no p63

Abstract

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.