http://www.orthopaedicweblinks.com Forms of Ectodermal Dysplasia with orthopaedic significance en-us Thu Feb 21 2008 22:43:25 GMT Copyright 2005 OWL Inc. orthopaedicweblinks@gmail.com (Christian Veillette) orthopaedicweblinks@gmail.com (OWL Inc.) http://www.orthopaedicweblinks.com/Detailed/10292.html Images of patients with ED 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10292 http://www.orthopaedicweblinks.com/Detailed/10291.html Ectodermal dysplasia may be caused by or feature of the following Congenital conditions Papillon Lefevre syndrome Mendelian inherited conditions Hypohidrotic X-linked ectodermal dysplasia Olmsted syndrome Autosomal dominant conditions Acro-dermato-ungual-lacrimal-tooth syndrome Hay-Wells syndrome Hidrotic ectodermal dysplasia Jadassohn-Lewandowsky syndrome Rapp-Hodgkin ectodermal dysplasia syndrome Witkop's syndrome Autosomal recessive conditions Margarita Island ectodermal dysplasia Meleda disease Tyrosinaemia type 2 X-linked inherited conditions BRESHECK syndrome Focal dermal hypoplasia Hypohidrotic ectodermal dysplasia with immune deficiency Ectodermal dysplasia: Definition(s) via UMLS.....Code translations and terms via UMLS. "A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita." 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10291 http://www.orthopaedicweblinks.com/Detailed/10283.html Review by dermatologist. Article by Kara N Shah, MD, PhD 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10283 Kara N Shah, MD http://www.orthopaedicweblinks.com/Detailed/10282.html Definition Return to top Ectodermal dysplasia is a hereditary condition characterized by abnormal development of the skin, hair, nails, teeth, and sweat glands. 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10282 http://www.orthopaedicweblinks.com/Detailed/10289.html McGrath et al. (1997, 1999) described a boy with a unique skin disorder comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails, and sweat glands. The proband reported by McGrath et al. (1997) was a 6-year-old boy with unrelated parents. There was no family history of skin blistering or other significant abnormalities. At birth, all of his skin was lobster pink, with blistering on the soles. Over the first 48 hours, he developed more severe blistering and desquamation on his face, limbs, and buttocks. His hair was noted to be short and sparse, and his nails were thickened and dystrophic. Subsequently, his skin continued to show fragility, with trauma-induced tearing and blisters on the pressure points of the soles after prolonged standing or walking. aka McGrath Syndrome 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10289 http://www.orthopaedicweblinks.com/Detailed/10281.html Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions. More than 150 different syndromes have been identified. The Ectodermal Dysplasias are heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair (tends to be very thin and sparse),teeth (absent, pointed or conical), nails, sweat glands (little or no sweating), cranial-facial structure, the eyes, digits and other parts of the body. Each combination of features represents another type of ED Syndrome and has a specific name. 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10281 http://www.orthopaedicweblinks.com/Detailed/10286.html Ectodermal dysplasia is not a single disorder, but a group of closely related conditions. More than 150 different syndromes have been identified. Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, cranial-facial structure, digits and other parts of the body." 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10286 http://www.orthopaedicweblinks.com/Detailed/10288.html Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting (Celli, Duijf, Hamel, et al. 1999). Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections (Ramirez, Lammer, 2004), obstruction of the nasolacrimal duct (Peterson-Falzone, Hardin-Jones, Karnell, 2001), decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eye lids, photophobia, occasional cognitive impairment and kidney anomalies, (Shprintzen, 1997) and conductive hearing loss (Brunner, Hamel, van Bokhoven, 2002; Shprintzen, 1997). Ectrodactyly involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand-split foot malformation (SHFM), (Moerman and Fryns, 1996; Brunner et al., 2002). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet (Peterson-Falzone, et al., 2001). 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10288 http://www.orthopaedicweblinks.com/Detailed/10287.html Hypohidrotic ectodermal dysplasia 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. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. This condition is also characterized by absent teeth (hypodontia) or teeth that are malformed. The teeth that are present are frequently small and pointed. Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nose (ozena). Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide. 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10287 http://www.orthopaedicweblinks.com/Detailed/10285.html Rare Diseases in Sweden Hypohidrotic ectodermal dysplasia belongs to the group of diseases known as ectodermal dysplasias. Alternative names for the disorder are anhidrotic ectodermal dysplasia (EDA I) and Christ-Siemens-Touraine syndrome. Hypohidrotic ectodermal dysplasia was described as early as 1848 by British physician J. Thurnam. There are more than 150 rare, hereditary types of ectodermal dysplasia, which affect the teeth, sweat glands, skin and hair. The most common form of the disease is hypohidrotic ectodermal dysplasia. The word hypohidrosis means diminished sweating ability, while ectodermal dysplasia refers to defects in the development of the ectoderm, which is the layer of cells in the embryo that develops into skin, hair, teeth, nails and secretory glands (tear glands, salivary glands, and mucous glands in the throat, larynx, respiratory system and intestinal tract). 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10285 http://www.orthopaedicweblinks.com/Detailed/10284.html eMedicine article by Suguru Imaeda, MD, Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Musculoskeltal manifestations - Failure to thrive Metaphyseal widening Spurs of the long bones Wormian bones in the sagittal and lambdoid sutures 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10284 Suguru Imaeda, MD http://www.orthopaedicweblinks.com/Detailed/10290.html This searches the NCBI site for Ectodermal Dysplasia. The early returns are mainly from the OMIM site detailing individual genetic conditions with ED. Reference to articles in the literature and other NCBI databases are also included URL http://www.google.ca/search?hl=en&lr=&q=+site:www.ncbi.nlm.nih.gov+Ectodermal+dysplasia 2006-11-27 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10290 Myles Clough http://www.orthopaedicweblinks.com/Detailed/10139.html Ectodermal dysplasia is not a single disorder. It is a group of heritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. More than 100 different ED syndromes have been described 2006-11-18 22:43:25 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10139