Christ-Siemens-Touraine syndrome

クリスト・ジーメンス・トゥレーヌ症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. German electrical engineer (1816-1892) (同)Ernst Werner von Siemens
4. engineer who was a brother of Ernst Werner von Siemens and who moved to England (1823-1883) (同)Karl Wilhelm Siemens, Sir Charles William Siemens

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
2. 『イエスキリスト』 / おや,何だって(驚き,怒りを表す下品な語) / 《no, yesの前において強意的に用いて》

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/20 21:03:07」(JST)

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Hypohidrotic ectodermal dysplasia
Classification and external resources
Specialty	medical genetics
ICD-10	Q82.4
ICD-9-CM	757.31
OMIM	305100 224900, 129490
DiseasesDB	29810
NCI	Hypohidrotic ectodermal dysplasia
GeneReviews	Hypohidrotic Ectodermal Dysplasia

Hypohidrotic ectodermal dysplasia (also known as "Anhidrotic ectodermal dysplasia," and "Christ-Siemens-Touraine syndrome") 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.

Presentation

Actor Michael Berryman displays outward symptoms of the condition.

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-coloured, 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.

Genetics

X-linked recessive inheritance

Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.

Hypohidrotic ectodermal dysplasia has several different inheritance patterns.

EDA (X-linked)

Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Since females operate on only one of their two X chromosomes (X inactivation) a female carrier may or may not manifest symptoms of the disease. If a female carrier is operating on her normal X she will not show symptoms. If a female is operating on her carrier X she will show symptoms.In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition. These signs and symptoms are usually mild and include a few missing or abnormal teeth, sparse hair, and some problems with sweat gland function. Some carriers, however, have more severe features of this disorder.

Other than managing symptoms, there is currently no treatment for XLHED. However in December 2012 Edimer Pharmaceuticals a biotechnology company based in Cambridge, MA USA, initiated a Phase I, open-label, safety and pharmacokinetic clinical study of EDI200, a drug aimed at the treatment of XLHED. During development in mice and dogs EDI200 has been shown to substitute for the altered or missing protein resulting from the EDA mutation, which causes XLHED. The initiation of a clinical study of EDI200 in neonates started in October 2013 with the first neonate tested.

EDAR or EDARADD (autosomal)

Less commonly, hypohidrotic ectodermal dysplasia results from mutations in the EDAR or EDARADD gene. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD mutations have an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

Notable individuals

• Michael Berryman, Saturn Award-nominated character actor

See also

• Hermann Werner Siemens
• List of cutaneous conditions
• Albert Touraine
• List of radiographic findings associated with cutaneous conditions
• List of dental abnormalities associated with cutaneous conditions

References

External links

• GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia
• Hypohidrotic ectodermal dysplasia at NLM Genetics Home Reference
• Author Web Site for Bonnie J. Rough, whose award-winning memoir "Carrier: Untangling the Danger in My DNA" describes one family's experience with hypohidrotic ectodermal dysplasia
• Bonnie J. Rough speaks about her family's history with HED on KRUI's The Lit Show
• Edimer Pharmaceuticals, a biotechnology company based in Cambridge, MA, USA dedicated to developing EDI200 as a potential therapy for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED).
• Have the Conversation, a resource website for families affected by X-linked HED.
• The XLHED Network, a website dedicated to connecting the XLHED community.
• Visit ClinicalTrials.gov for a list of clinical trials related to Ectodermal Dysplasia.

UpToDate Contents

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• 1. 悪性腫瘍およびリウマチ性疾患malignancy and rheumatic disorders [show details]
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English Journal

• A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.

• Awazawa M1,2,3, Gabel P1,2,3, Tsaousidou E1,2,3, Nolte H3, Krüger M3, Schmitz J1,2,3, Ackermann PJ1,2,3, Brandt C1,2,3, Altmüller J4,5, Motameny S4, Wunderlich FT1, Kornfeld JW1,3, Blüher M6, Brüning JC1,2,3,7.
• Nature medicine.Nat Med.2017 Dec;23(12):1466-1473. doi: 10.1038/nm.4420. Epub 2017 Nov 6.
• PMID 29106399

• Automatic recognition of the XLHED phenotype from facial images.

• Hadj-Rabia S1, Schneider H2, Navarro E3, Klein O4, Kirby N5, Huttner K5,6, Wolf L7,8, Orin M7, Wohlfart S2, Bodemer C1, Grange DK9.
• American journal of medical genetics. Part A.Am J Med Genet A.2017 Sep;173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10.
• PMID 28691769

• Ectodysplasin A protein promotes corneal epithelial cell proliferation.

• Li S1,2,3, Zhou J1,2,3, Bu J1,2,3, Ning K1,2,3, Zhang L1,2,3, Li J1,2,3, Guo Y1,2,3, He X1,2,3, He H1,2,3, Cai X1,2,3, Chen Y1,2,3, Reinach PS4, Liu Z1,2,3,5, Li W6,2,3,5.
• The Journal of biological chemistry.J Biol Chem.2017 Aug 11;292(32):13391-13401. doi: 10.1074/jbc.M117.803809. Epub 2017 Jun 27.
• PMID 28655773

Japanese Journal

• Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) presenting as a fever of unknown origin in an infant

• HIZLI S
• Int J Dermatol 37, 132-134, 1998
• NAID 30014437275

• 減汗性外胚葉異形成症(Christ-Siemens-Touraine syndrome)の麻酔経験

• 津田 敦,入江 文彦,緒方 良治,藤垣 徹
• 日本臨床麻酔学会誌 = The Journal of Japan Society for Clinical Anesthesia 17(6), 393-395, 1997-07-15
• NAID 10010950352

Related Pictures

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「無汗性外胚葉形成異常症」

　　[★]

英

anhidrotic ectodermal dysplasia

同

クリスト・ジーメンス・トゥレーヌ症候群 Christ-Siemens-Touraine syndrome、発汗減少性外胚葉形成異常症候群 hypohydrotic ectodermal dysplasiasyndrome

• 伴性劣性遺伝または常染色体劣性遺伝形式である。女性はモザイクで軽症のことが多い
• 疎毛(先天性脱毛)、無汗症(汗腺の不完全or完全欠損による。高体温を呈することあり)、歯牙形成異常は特徴的である。
• 膜蛋白をコードするEDA(Rectodysplasin anhidrotic)遺伝子の異常が原因とされ、同タンパク質はケラチン細胞、毛嚢、汗腺などに発現している。
• 皮膚は全体的に薄く乾燥しているおり、高温の環境に弱く熱射病になりやすい
• 流涙の減少や口腔鼻粘膜の乾燥のため、角結膜炎や口内炎、化膿性鼻炎、 嗄声をきたしやすい。
• 顔貌の特徴としては、鞍鼻、前額突出、突出した口唇、大きな耳介を認める。
• 高温環境に注意すれば予後は良好である。

「クリスト・ジーメンス・トゥレーヌ症候群」

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英

Christ-Siemens-Touraine syndrome

関

無汗性外胚葉形成異常症

「syndrome」

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• n.

• 症候群

　 　 　

「siemens」

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シーメンス

関

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