ADULT syndrome

Classification according to ICD-10
Q87.2	Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The ADULT syndrome is a very rare genetic disease , the autosomal - dominant inherited. The name is an acronym . The letters stand for the existing in this syndrome changes or abnormalities of the affected areas of the body or bodies, " a cro" ( extremities ), " d ermato" ( skin ), " u ngual" ( nails ), " l acrimal" ( lacrimal ) " T ooth" (teeth). The syndrome is therefore also known as Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

Cause of ADULT syndrome is a mutation in the TP63 gene at the location 3q28 which the tumor protein 63 , a transcription factor , encoded .

Clinical manifestations

The disease is characterized by ectrodactyly , pronounced freckle-like pigmentation of the skin (" freckling "), nail dysplasia , occlusion of the tear ducts , the absence of some or all teeth ( hypodontia ) or microdontia . In addition, exfoliative dermatitis on the fingers and toes is typical.

The ADULT syndrome is an allelic disease , which means that only certain mutations in the p63 gene lead to this syndrome. Mutations elsewhere in the p63 gene lead to syndromes with a different clinical picture ( EEC syndrome , Hay-Wells syndrome , Rapp-Hodgkin syndrome and SHFM4 ).

Web links

Images of typical malformations in patients with ADULT syndrome ( Memento from September 29, 2015 in the Internet Archive ) in the European Journal of Human Genetics

literature

P. Monti, D. Russo, et al. a .: EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences. In: Human mutation. Volume 34, Number 6, June 2013, pp. 894-904, ISSN 1098-1004 . doi: 10.1002 / humu.22304 . PMID 23463580 .
E. Avitan-Hersh, M. Indelman, et al. a .: ADULT syndrome caused by a mutation previously associated with EEC syndrome. In: Pediatric Dermatology . Volume 27, Number 6, 2010 Nov-Dec, pp. 643-645, ISSN 1525-1470 . doi: 10.1111 / j.1525-1470.2010.01131.x . PMID 21078104 .
P. Propping , K. Zerres. ADULT syndrome: an autosomal dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. In: Am J Med Genet. 1993 Mar 1; 45 (5), pp. 642-648. PMID 8456838 .

Individual evidence

↑ ADULT syndrome. In: Orphanet (Rare Disease Database).
↑ ADULT syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ ADULT syndrome. orphanet, September 2006, accessed June 6, 2014 .
^ HG Brunner, BC Hamel, H. Van Bokhoven: The p63 gene in EEC and other syndromes. In: Journal of medical genetics. Volume 39, Number 6, June 2002, pp. 377-381, ISSN 1468-6244 . PMID 12070241 . PMC 1735150 (free full text). (Review).
↑ T. Rinne, E. Spadoni and a .: Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. In: European journal of human genetics: EJHG. Volume 14, Number 8, August 2006, pp. 904-910, ISSN 1018-4813 . doi: 10.1038 / sj.ejhg.5201640 . PMID 16724007 .

[1] ADULT syndrome. In: Orphanet (Rare Disease Database).

[2] ADULT syndrome. In: Online Mendelian Inheritance in Man . (English)

[orphanet-3] ADULT syndrome. orphanet, September 2006, accessed June 6, 2014 .

[Brunner-4] HG Brunner, BC Hamel, H. Van Bokhoven: The p63 gene in EEC and other syndromes. In: Journal of medical genetics. Volume 39, Number 6, June 2002, pp. 377-381, ISSN 1468-6244 . PMID 12070241 . PMC 1735150 (free full text). (Review).

[Rinne-5] T. Rinne, E. Spadoni and a .: Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. In: European journal of human genetics: EJHG. Volume 14, Number 8, August 2006, pp. 904-910, ISSN 1018-4813 . doi: 10.1038 / sj.ejhg.5201640 . PMID 16724007 .