This website is maintained by the national library of medicine. This 19yearold man with christ touraine siemens syndrome has mild frontal bossing with dry and sparse scalp hair, prominent supraorbital ridges with scanty eyebrows, a depressed and wide nasal bridge saddle nose, and high and wide cheekbones with a flattened maxilla. She presented typical characteristics of christ siemens touraine syndrome such as alterations of the inferior members, a great. The history and physical examination were supplemented by four sweat tests and dermatoglyphic analysis. Media in category hypohidrotic ectodermal dysplasia this category contains only the following file.
In 1912 he received his doctorate with the thesis les anticorps syphilitiques. Hermann wfrner siemens, dermatocog gennan, profesor a tvimche. Christ siemens touraine syndrome hypohidrotic ectodermal dysplasia is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. Hypohidrotic ectodermal dysplasia, oligodontia, christ siemens touraine syndrome. Xlinked hypohidrotic ectodermal dysplasia genetic and. Wedderbrun communicated to charles darwin 18091882 the case of one hindu family at scinde in which 10 men over 4 generations presented an ectodermal dysplasia.
This article presents a case in a 37 years old female patient, referred to the dental clinic for impairment patients maintained by the university of pernambuco. Christsiemenstouraine syndrome with selfmutilation habit. Christ siemens touraine syndrome isabella brasil succi i. First report of hereditary christ siemens touraine syndrome and non. It is caused by mutation in gene ectodysplasin eda, eda1 located at xq12. The plight of any syndrome is the impact they have on the quality of life of the sufferer. This patient was a case of christsiemenstouraine syndrome with the typical presentation of disease in his face and oral cavity. Hypohidrotic ed christ siemens touraine syndrome is the most frequent form of ectodermal dysplasia, and genetic defects in ectodysplasin signal transduction pathways are the basis of this syndrome. Hypohidrotic ed christsiemenstouraine syndrome is the most frequent form of ectodermal dysplasia, and genetic defects in ectodysplasin signal transduction pathways are the basis of this syndrome. Christ siemens touraine cst is a rare hereditary disorder of xlinked recessive trait, characterized by abnormal development of two or more. Dental handling of patients with christsiemenstouraine.
Anhidrotic ectodermal dysplasia xlinked, christ siemens touraine syndrome zlotogora syndrome. Hypohidrotic ectodermal dysplasia a syndrome of interest to dentistry. Early recognition and dental treatment of hed carrier individuals referred to oral alterations is. Pdf hypohidrotic ectodermal dysplasia hed is a rare disease of genetic etiology.
National foundation for ectodermal dysplasias genetic. Christ siemens touraine cst is a rare hereditary disorder of xlinked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. Sindrom christ siemens sindrom christ siemens, josef christ, mafic fi dentist gennan, 18711948. The ectodermal dysplasias are a large and complex group of diseases. Christsiemenstouraine syndrome hypohidrotic ectodermal dysplasia hed is a diffuse, nonprogressive disease present at birth and involves at least two tissues of ectodermal origin. Christ siemens touraine cst syndrome, also known as anhidrotichypohydrotic ectodermal dysplasia ed is an xlinked recessive condition seen exclusively in males resulting due to a mutation in transmembrane protein ectodysplasin a, associated with ectodermal structures. Nord is a patient advocacy organization for individuals with rare.
Dental handling of patients with christsiemenstouraine syndrome. Christ siemens touraine syndrome symptoms, causes, diagnosis, and treatment information for christ siemens touraine syndrome ectodermal dysplasia anhidrotic with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. I graduate course student in dermatology of the institute of dermatology prof. Hypohidrotic ectodermal dysplasia, also known as christ siemens touraine syndrome, was first described by wedderbun in 1838. Hypohidrotic ectodermal dysplasia wikimedia commons. Touraine syndrome definition of touraine syndrome by. The national organization for rare disorders nord has a report for patients and families about this condition. Christ siemens touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an egyptian child. A total of 27 women of a brazilian kindred are described as having one or more signs of the christ. Sorry, we are unable to provide the full text but you may find it at the following locations. Dental handling of patients with christ siemens touraine syndrome. Dental abnormalities in a 5yearold girl from north sweden family who suffered from various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia hed. Hypohidrotic ectodermal dysplasia, also known as christsiemenstouraine.
It is suggested that this syndrome has two forms a major form in males and a minor one in females. Siemens report was based on the study of 19 families. Sindrom christsiemens dictionar medical roman dictio. Christsiemenstouraine syndrome with cleft palate, absent. The christ siemens touraine syndrome cst syndrome is the rare an or hypohidrotic form of the ectodermal dysplasia. Public summary of opinion on orphan designation emacomp3677752005 page 26 dysplasia christ siemens touraine syndrome is a lifethreatening disease that increases the risk of. Genetics home reference ghr contains information on xlinked hypohidrotic ectodermal dysplasia. This patient was a case of christ siemens touraine syndrome with the typical presentation of disease in his face and oral cavity. The other category case report abstract introduction. Diagnostico y manejo odontologico del paciente infantil con displasia ectodermica anhidrotica. The adverse impact on both the physical and emotion well being cannot be overemphasised.