WordNet

of or relating to sweat
of or relating to the ectoderm (同)ectodermic
abnormal development (of organs or cells) or an abnormal structure resulting from such growth
the outer germ layer that develops into skin and nervous tissue (同)exoderm, ectoblast

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/05/01 01:12:30」(JST)

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Clouston's hidrotic ectodermal dysplasia (also known as "Alopecia congenita with keratosis palmoplantaris," "Clouston syndrome,"^[1]^:571 "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.^[2]^{:507,511,517-16}

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.

External links

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

References

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

UpToDate Contents

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English Journal

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P, , Kernohan KD, Boycott KM.
Clinical genetics. 2019 May;95(5)601-606.
The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we prov
PMID 30790272

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, Yu H, Yao Z.
The Journal of dermatology. 2019 May;46(5)422-425.
A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis
PMID 30809829

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K.
Journal of human genetics. 2019 May;64(5)499-504.
The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. The present case showed severe intellectual disability, impaired awareness, hyperekplexia,
PMID 30842599

Japanese Journal

有汗性外胚葉異形成症患者に発生した両側上顎洞部含歯性囊胞の1例

日本口腔外科学会雑誌 = Japanese journal of oral and maxillofacial surgery 59(11), 699-703, 2013-11
NAID 40019888500

有汗性外胚葉異形成症患者に発生した両側上顎洞部含歯性嚢胞の1例

日本口腔外科学会雑誌 59(11), 699-703, 2013
NAID 130004793864

G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family

Journal of dermatology 37(6), 559-561, 2010-06-01
NAID 10026546682

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リンク元	「発汗性外胚葉形成異常症」
拡張検索	「anhidrotic ectodermal dysplasia」「autosomal recessive hypohidrotic ectodermal dysplasia」「anhidrotic ectodermal dysplasia 1」「anhidrotic ectodermal dysplasia 3」
関連記事	「hidrotic」「ectodermal」