Limb-mammary syndrome (LMS)
Referenced from U.S. National Library of Medicine (1) and Online Mendelian Inheritance in Man (2)
Limb-mammary syndrome (LMS) is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.
Individuals diagnosed with LMS are characterized as having severe abnormalities of the hands and/or feet, along with underdeveloped or defective mammary gland and nipple. In some cases, these individuals may display blocked or absent tear ducts and cleft palate
LMS also 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
- difficulty or inability to sweat.
LMS is part of the same disease spectrum as Rapp-Hodgkin syndrome (RHS), ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome (EEC), Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome and ankyloblepharon filiforme adenatum-ectodermal dysplasia-cleft palate syndrome (AEC), also known as Hay-Wells syndrome (HWS).
Inherited in an autosomal dominant pattern, LMS is caused by mutations 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.
(1)Genetics Home Reference, Genes: 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) #603543 Limb-Mammary Syndrome; LMS [Internet]. Online Mendelian Inheritance in Man; [published February 17, 1999; reviewed July 15, 2011]. [About 4 screens] Available from: http://omim.org/entry/603543.