RESEARCH LETTER Adermatoglyphia, Previously Unrecognized Manifestation in ADULT Syndrome Hiram Larangeira de Almeida Jr., 1,2,3 * Patr ıcia Caspary, 1 Rodrigo Pereira Duquia, 1,2 Rowdy Meijer, 4 and Maurice van Steensel 5 1 Department of Dermatology, Santa Casa de Porto Alegre, Porto Alegre, Brazil 2 Department of Dermatology, Federal University of Pelotas, Pelotas, RS, Brazil 3 Department of Dermatology, Catholic University of Pelotas, Pelotas, RS, Brazil 4 Department of Human Genetics, University of Nijmegen, Nijmegen, the Netherlands 5 Department of Dermatology, University Hospital Maastricht, Maastricht, the Netherlands Received 8 May 2010; Accepted 1 July 2010 TO THE EDITOR: The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome (OMIM 103285) was first reported by Propping and Zerres [1993] in a German family, followed by other sporadic [Yang et al., 2007] and family reports [Duijf et al., 2002]. This syndrome probably belongs to the ectodermal dysplasias group [Priolo and Lagan a, 2001]. This condition overlaps other disorders with mutations in the transcriptional co-activator p63, which is important in limb and ectodermal appendage development [Duijf et al., 2002], such as nails, teeth, hair, and glands [Rinne et al., 2006]. Differential diagnosis includes the ectrodactyly-ectodermal dysplasia-cleft lip/ palate syndrome and the limb-mammary syndrome. We examined an 11-year-old boy, who was concerned about his nail dystrophies. Beside nail changes, athelia, flecking of sun- exposed areas, and dystrophic teeth were also seen. Ophthalmologic examination showed obstruction of the lacrimal ducts. Light microscopy of a skin biopsy showed normal eccrine sweat glands. His mother had similar changes, with hypoplastic mammillae; she could not breast fed her children. A mutation in the p63 gene c.893G > A; p.Arg298Gln was identified. In a second consultation the whole family was examined. Three additional cases with similar findings were diagnosed, his two older sisters and a nephew. An autosomal dominant inheritance pattern was found. His two sisters informed us that they had problems with finger- printing for their IDs. Close examination showed adermatoglyphia of all affected individuals (Fig. 1), which was not found in normal relatives. Adermatoglyphia has been described in other forms of ectoder- mal dysplasia [Pinheiro and Freire-Maia, 1994]; it is possible that it has been overlooked in other reported cases of ADULT syndrome. There are no funding sources or conflict of interest. *Correspondence to: Hiram Larangeira de Almeida, Rua Barroso 1202—UCPEL, 96010-280 Pelotas, RS, Brazil. E-mail: hiramalmeidajr@hotmail.com Published online 2 September 2010 in Wiley Online Library (wileyonlinelibrary.com). DOI 10.1002/ajmg.a.33625 How to Cite this Article: de Almeida HL, Caspary P, Duquia RP, Meijer R, van Steensel M. 2010. Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. Am J Med Genet Part A 152A:2656–2657. FIG. 1. a: Normal dermatoglyphics in a normal relative. b,c: Adermatoglyphia in two affected individuals. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com] Ó 2010 Wiley-Liss, Inc. 2656