Clouston syndrome
עודכן לאחרונה 18 Aug 2020
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Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterised by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterised by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
תיאור
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterised by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterised by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in colour than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent.
Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder.
Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in colour than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Clouston hidrotic ectodermal dysplasia
Clouston's syndrome
ECTD2
Ectodermal dysplasia 2, Clouston type
HED2
Hidrotic ectodermal dysplasia 2
Related patient information and medicines
Patient information leaflet
רעלת הריון
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Patient information leaflet
צלע צווארית
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תסמונת נפרוטית
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Patient information leaflet
מוות בעריסה
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Patient information leaflet
תסמונת דאון
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Patient information leaflet
תסמונת אנטי-פרכוס עוברית
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
קריאה נוספת והפניות
- Clouston syndrome; MedlinePlus, National Library of Medicine.
- Baris HN, Zlotogorski A, Peretz-Amit G, Doviner V, Shohat M, Reznik-Wolf H, Pras E. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. Br J Dermatol. 2008 Dec;159(6):1373-6. doi: 10.1111/j.1365-2133.2008.08796.x. Epub 2008 Aug 19. No abstract available.
- Essenfelder GM, Bruzzone R, Lamartine J, Charollais A, Blanchet-Bardon C, Barbe MT, Meda P, Waksman G. Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. Hum Mol Genet. 2004 Aug 15;13(16):1703-14. doi: 10.1093/hmg/ddh191. Epub 2004 Jun 22.
- Fraser FC, Der Kaloustian VM. A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am J Med Genet. 2001 Apr 22;100(2):164-8. doi: 10.1002/1096-8628(20010422)100:23.0.co;2-w.
- Fujimoto A, Kurban M, Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb;69(2):159-66. doi: 10.1016/j.jdermsci.2012.11.005. Epub 2012 Nov 16.
- Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet. 1996 Apr;5(4):543-7. doi: 10.1093/hmg/5.4.543.
- Kibar Z, Dube MP, Powell J, McCuaig C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet. 2000 May;8(5):372-80. doi: 10.1038/sj.ejhg.5200471.
- Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4. doi: 10.1038/79851. No abstract available.
- Mellerio J, Greenblatt D. Hidrotic Ectodermal Dysplasia 2. 2005 Apr 25 [updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1200/
- Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar;118(3):530-2. doi: 10.1046/j.0022-202x.2001.01689.x.
- Zhang XJ, Chen JJ, Yang S, Cui Y, Xiong XY, He PP, Dong PL, Xu SJ, Li YB, Zhou Q, Wang Y, Huang W. A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. J Dermatol Sci. 2003 Jun;32(1):11-7. doi: 10.1016/s0923-1811(03)00033-1.
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