Clouston syndrome

クルーストン症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/22 21:53:36」(JST)

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Clouston's hidrotic ectodermal dysplasia
Classification and external resources
OMIM	129500

Clouston's hidrotic ectodermal dysplasia (also known as "Alopecia congenita with keratosis palmoplantaris," "Clouston syndrome," "Fischer–Jacobsen–Clouston syndrome," "Hidrotic ectodermal dysplasia," "Keratosis palmaris with drumstick fingers," and "Palmoplantar keratoderma and clubbing") is caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia.

Disease characteristics

Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this entry) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.

Diagnosis

HED2 is suspected after infancy on the basis of physical features in most affected individuals. GJB6 is the only gene known to be associated with HED2. Targeted mutation analysis for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals. Sequence analysis is also available on a clinical basis for those in whom none of the four known mutations is identified.

Treatment

Treatment of manifestations: special hair care products to help manage dry and sparse hair; wigs; artificial nails; emollients to relieve palmoplantar hyperkeratosis.

Genetic counseling

HED2 is inherited in an autosomal dominant manner. Most individuals with HED2 have an affected parent; de novo gene mutations have also been reported. Offspring of affected individuals have a 50% chance of inheriting the mutation and being affected. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in an affected family member is known; however, requests for prenatal testing for conditions such as HED2 are not common.

See also

• Palmoplantar keratoderma
• List of cutaneous conditions
• List of cutaneous neoplasms associated with systemic syndromes

External links

• GeneReviews/NCBI/NIH/UW entry on Hidrotic Ectodermal Dysplasia 2
• OMIM entries on Hidrotic Ectodermal Dysplasia 2

References

English Journal

• Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies.

• Elmann S1, Hanson SA, Bunce CN, Shinder R.
• Ophthalmic plastic and reconstructive surgery.Ophthal Plast Reconstr Surg.2014 May 5. [Epub ahead of print]
• A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphor
• PMID 24801258

• The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

• Bosen F1, Schütz M1, Beinhauer A1, Strenzke N2, Franz T3, Willecke K4.
• FEBS letters.FEBS Lett.2014 May 2;588(9):1795-801. doi: 10.1016/j.febslet.2014.03.040. Epub 2014 Mar 29.
• Distinct mutations in the gap junction protein connexin30 (Cx30) can cause the ectodermal dysplasia Clouston syndrome in humans. We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. Our results show that the mutated
• PMID 24685692

• Saliva-microbe interactions and salivary gland dysfunction.

• Baker OJ1, Edgerton M, Kramer JM, Ruhl S.
• Advances in dental research.Adv Dent Res.2014 May;26(1):7-14. doi: 10.1177/0022034514526239.
• Adequate salivary secretion is crucial to both oral and general health, since it provides a complex milieu for support of the microbial populations of the mouth, while at the same time containing antimicrobial products that help control these microbial populations. This paper summarizes several aspe
• PMID 24736699

Japanese Journal

• 症例報告 GJB6遺伝子c.31G>A変異による掌蹠角化を欠くClouston症候群の1例

• 臨床皮膚科 = Japanese journal of clinical dermatology 69(6), 379-383, 2015-05
• NAID 40020477230

• 有汗性外胚葉形成異常症(Clouston 症候群)の1例

• 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 28(1), 19-22, 2009-05-31
• NAID 10024847342

• A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

• J Invest Dermatol 123, 291-293, 2004
• NAID 30014532968

Related Pictures

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★リンクテーブル★

リンク元	「発汗性外胚葉形成異常症」
関連記事	「syndrome」

「発汗性外胚葉形成異常症」

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英

hidrotic ectodermal dysplasia

同

クルーストン症候群 Clouston syndrome

関

外胚葉異形成症、無汗性外胚葉形成不全

「syndrome」

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• n.

• 症候群