Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome (ADULT)

Referenced from U.S. National Library of Medicine (1) and European Journal of Human Genetics (2) with additional original material

What is ADULT?
Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is one of about 150 identified forms of ectodermal dysplasia, which are characterized by the prenatal abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

Individuals diagnosed with ADULT syndrome tend to display prominent or excessive freckling. Ectrodactyly — abnormalities of the hands and feet — are common; however cleft lip and palate does not occur in these individuals. Furthermore, breast tissue and nipple abnormalities are common symptoms of ADULT syndrome.

ADULT syndrome boasts many common ectodermal dysplasia symptoms, such as:

  • Changes in skin pigmentation;
  • Sparse, brittle or missing hair;
  • Absent or malformed finger- and toenails;
  • Malformed or missing teeth;
  • Sensitivity to heat; and/or
  • Reduced ability to sweat.

ADULT syndrome is part of the same disease spectrum as Rapp-Hodgkin syndrome (RHS), ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), limb-mammary syndrome (LMS) and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC), also known as Hay-Wells syndrome (HWS).

Inherited in an autosomal dominant pattern, this group of diseases is caused by a mutation in the TP63 gene, which interferes with the ability of the p63 protein to turn on and off many genes during early development. The p63 protein is critical in the development of ectodermal structures such as skin, hair, teeth and nails, as well as in the development of limbs, facial features, tissues and the urinary system.

Dayna is a parent of a child diagnosed with ADULT syndrome, and says raising her is no different than raising a child without a genetic syndrome, with the exception of having to visit different specialists a few times a year.

However, because ADULT syndrome is so rare, she find that whenever she and her husband visit a hospital or any type of medical appointment the specialist will ask if his/her colleague if could also examine their daughter.

“We realize that most doctors have not met anyone with ADULT syndrome, and this is a way for them to learn more about this syndrome. I just worry that my daughter may feel that she is some kind of test case. We just don’t want her to feel like she is being centered out,” says Dayna.

“In my daughter’s case, she does not have the freckling that is common with ADULT syndrome, however she does have skin pigmentation (her skin can look patchy at times) and she also does not have a reduced ability to sweat. She does have the other major indicators of ADULT syndrome.””

If you or anyone you know has this rare condition and would like to share information with CEDSA, please contatct meghan@ectodermaldysplasia.ca.

(1)Genetics Home Reference, Genes: http://ghr.nlm.nih.gov/gene/TP63 [Internet]. U.S. National Library of Medicine; [reviewed June 2011; published August 8, 2011]. [About 3 screens]. Available from: http://ghr.nlm.nih.gov/gene/TP63.

(2) European Journal of Human Genetics, Article: Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene [Internet].Nature Publishing Group; [published 17 May 2006]. [About 6 screens]www.nature.com/ejhg/journal/v14/n8/full/5201640a.html.