Hypohidrotic ectodermal dysplasia hed is characterized by hypotrichosis, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis. Christ siemens touraine syndrome congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair, and associated with deformed nails, absent breast tissue, mental retardation, or syndactyly. This rare disorder, also known as christsiemenstouraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. Christsiemenstouraine syndrome definition of christ. Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The child was normal in demeanour and did not show any signs of low i. 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. It causes repeated, involuntary physical movements and vocal outbursts. Christsiemenstouraine cst syndrome, also known as anhidrotic hypohydrotic ectodermal dysplasia ed is an xlinked recessive condition. In this type of syndrome, there are no sweat glands or they are signi. She presented typical characteristics of christ siemens touraine syndrome such as alterations of the inferior members, a great number of diffuse. Anhidrotic ectodermal dysplasia christsiemenstouraine. The child responded to questions and obeyed to verbal. According to phan et al 8, incontinentia pigmenti ip or blochsulzberger syndrome is a rare xlinked dominant, multisystem neuroectodermal.
Christsiemenstouraine syndrome congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair, and associated with deformed nails, absent breast tissue, mental retardation, or syndactyly. C2 deficiency, see complement component 2 deficiency. Christsiemenstouraine syndrome with cleft palate, absent. Anhidrotic ectodermal dysplasia, christsiemenstouraine syndrome. Christsiemenstouraine syndrome hypohidrotic ectodermal dysplasia hed is a diffuse. A total of 27 women of a brazilian kindred are described as having one or more signs of the christ. Christsiemenstouraine syndromehypohidrotic ectodermal dysplasia hed is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as. Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures. The eponym christsiemenstouraine syndrome was named after its discoverers.
These tissues primarily affected are the skin, hair, nails, eccrine glands, and teeth. Cleft lippalateectodermal dysplasia syndrome, ectodermal dysplasia, cleft lip and palate, mental retardation, and. Ectodermal dysplasia 1, hypohidrotic ectodermal dysplasia xlinked, anhidrotic ectodermal dysplasia xlinked, christsiemenstouraine syndrome zlotogora syndrome. As unusual features, one kindred presented two very severely affected girls, nine affected males with a normal nose, and a very heterogeneous trichodysplasia among both males and females. Oct 22, 2014 first report of hereditary christsiemenstouraine syndrome and non. Christsiemenstouraine syndrome synonyms, christsiemenstouraine syndrome pronunciation, christsiemenstouraine syndrome translation, english dictionary definition of. Christsiemenstouraine syndrome with cleft palate, absent nipples.
Christ siemens touraine syndrome synonyms, christ siemens touraine syndrome pronunciation, christ siemens touraine syndrome translation, english dictionary definition. Ectodermal dysplasia syndromes are currently classified based on constellations of clinical features, a major one of which is the presence or absence of normal sweating. Surgery, dentistry, odontology, chirurgie, dentisterie, odontologie, chirurgie dentaire, hygiene buccodentaire chez lenfant, christsiemenstouraine. A condition is considered xlinked if the mutated gene that causes the disorder is located on the x chromosome, one of the two sex chromosomes. Case report of anhidrotic ectodermal dysplasia christ seimens touraine syndrome. 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 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. Surgery, dentistry, odontology, chirurgie, dentisterie, odontologie, chirurgie dentaire, hygiene buccodentaire chez lenfant, christ siemens touraine. The eponym christ siemens touraine syndrome was named after its discoverers. Christ siemens touraine syndrome hypohidrotic ectodermal dysplasia hed is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as. Christ siemens touraine syndrome with selfmutilation habit. This rare disorder, also known as christ siemens touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
Dental abnormalities in a 5yearold girl from north sweden family who suffered from various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia hed. This condition is inherited in an xlinked recessive manner. The incidence of ectodermal dysplasia is rare 1 in 100,000 birth. It exhibits a frequency of 1 per 100,000 live births. It is the most common form of the ectodermal dysplasias, a spectrum of more than 170 genetic disorders that are characterized by at least one primary morphological. Christ siemens touraine syndrome hypohidrotic ectodermal dysplasia hed is a diffuse, nonprogressive disease present at birth and involves at least two tissues of ectodermal origin. The xlinked recessive form of hed, also known as christsiemenstouraine syndrome, is the most frequent and widely documented form. Clinical findings in mosaic carriers of hypohidrotic. Hed christsiemenstouraine syndrome has characteristic triad of reduction in the. The plight of any syndrome is the impact they have on the quality of life of the sufferer.
Hypohidrotic ectodermal dysplasia genetics home reference nih. Christsiemens touraine syndrome characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. The adverse impact on both the physical and emotion well being cannot be overemphasised. Defects in tissues derived from other embryologic layers are not uncommon. The history and physical examination were supplemented by four sweat tests and dermatoglyphic analysis. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. In 19, christ characterized it as a congenital ectodermal defect, siemens confirmed the xlinked nature of inheritance in 1921 and in 1936, and touraine. Hypohidrotic ectodermal dysplasia hed is an xlinked condition and is the most common form of ed. Xlinked hypohidrotic ectodermal dysplasia xlhed or christ siemens touraine syndrome is a rare x chromosomelinked recessive disorder inherited through affected female patients.
The other category case report abstract introduction. Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. Hypohidrotic ectodermal dysplasia, also known as christsiemenstouraine syndrome, was first described by wedderbun in 1838. Mosaic expression of hypohidrotic ectodermal dysplasia in. Edar, edaradd, and wnt10a gene mutations each account for a smaller percentage of cases. Alves syndrome, trichooculodermovertebral syndrome, trichooculodermovertebral syndrome, todv syndrome, alvesdos santoscastelo syndrome, ectodermal dysplasia cataracts kyphoscoliosis, ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract. It is caused by mutation in gene ectodysplasin eda, eda1 located at xq12. First report of hereditary christsiemenstouraine syndrome. The anhidtrotic form caracterise the christsiemenstouraines syndrome. The ectodermal dysplasias form an heterogeneous group of rare and complex genetic diseases with diffe rent ectodermal derivates abnormalities. The evaluation of sweating in these disorders has not been performed in a standardized manner, as is shown here in this. The designation they proposed, christsiemenstouraine cst syndrome, runs the risk of confusion with the crst syndrome calcinosisraynaudsclerodactylytelangiectasia. The anhidtrotic form caracterise the christ siemens touraines syndrome. Christ siemens touraine cst syndrome xlinked, autosomal recessive ar, and autosomal dominant ad hed, as well as a fourth rare subtype with immunodeficiency as the key symptom hed with immunodeficiency see these terms.
Anhidrotic ectodermal dysplasia is the most common type of disease. Eda gene mutations are the most common cause of the disorder, accounting for more than half of all cases. The designation they proposed, christ siemens touraine cst syndrome, runs the risk of confusion with the crst syndrome calcinosisraynaudsclerodactylytelangiectasia. This rare disorder, also known as christsiemenstouraine syndrome, manifests as a triad of.
The ectodermal dysplasias are a large and complex group of diseases. It is suggested that this syndrome has two forms a major form in males and a minor one in females. Anhidrotic ectodermal dysplasia aed is a rare disorder also known as christ siemens touraine syndrome 2, charels darwin was one of the earliest observers to describe this condition. Christ siemens touraine syndrome, it is the most frequent form out of the approximately 150 types of ectodermal dysplasia. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom. This patient was a case of christsiemenstouraine syndrome with the typical presentation of disease in his face and oral cavity.
C1 inhibitor deficiency, see hereditary angioedema. This surface layer of cells is called the ectoderm, and from it develops the skin, hair, nails, teeth, nerve. Dental handling of patients with christsiemenstouraine. 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. It is usually transmitted by a recessive gene linked to chromosome x. Introduction before a developing baby is large enough to be seen, a layer of cells covers the outside of the body.
Christsiemenstouraine syndrome article about christ. A rare case report article pdf available in journal of indian society of pedodontics and preventive dentistry 342. National foundation for ectodermal dysplasias genetic and. This case report discusses the features, classification and prosthetic treatment plan upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively. It was first described in 1848 by thurnam 7 and later by darwin 8. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. Josef christ 18711948, a german dentist and physician from wiesbaden, who was the first physician to identify the condition, hermann werner siemens 18911969, a pioneering german dermatologist from charlottenburg, who clearly identified its pathological. Jan 10, 2009 the ectodermal dysplasias are a large and complex group of diseases. 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. Hypohidrotic ectodermal dysplasia wikimedia commons. Hypohidrotic ectodermal dysplasia is a genetic condition that can result from mutations in one of several genes. Epithelial cells in hair follicles, eccrine sweat glands, and developing teeth use this pathway during morphogenesis.
National foundation for ectodermal dysplasias genetic. The christsiemenstouraine syndrome cst syndrome is the rare an or hypohidrotic form of the ectodermal dysplasia. Two large brazilian families with 34 males and 32 females presenting christsiemenstouraine syndrome are reported. Media in category hypohidrotic ectodermal dysplasia this category contains only the following file. Most cases are inherited in an xlinked pattern and are caused by mutations in the eda gene. This patient was a case of christ siemens touraine syndrome with the typical presentation of disease in his face and oral cavity. Canadian ectodermal dysplasia syndromes association cedsa. The anhidrotic was first described by thurnam in 1848 and later by darwin 7. Read anhidrotic ectodermal dysplasia christsiemenstouraine syndrome presenting as a fever of unknown origin in an infant, international journal of dermatology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. First report of hereditary christsiemenstouraine syndrome and non. Christ siemens touraine syndrome christ siemens touraine syndrome omim 305100 is a rare ectodermal dysplasia characterized by a triad of signs comprising sparse hair hypotrichosis, abnormal or missing teeth anodontia or hypodontia, and inability to sweat anhidrosis or hypohidrosis. Hypohidrotic ectodermal dysplasia has several different inheritance patterns.
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