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Hidrotic Ectodermal Dysplasia 2

Synonyms: Clouston Syndrome, Clouston Hidrotic Ectodermal Dysplasia
, MD
Departments of Pediatrics and Human Genetics
McGill University
Montreal, Quebec, Canada

Initial Posting: ; Last Update: February 3, 2011.

Summary

Disease characteristics. Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) 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/testing. 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 detects mutations in approximately 100% of affected individuals. Sequence analysis can be used when none of the four known mutations is identified.

Management. 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.

Diagnosis

Clinical Diagnosis

The diagnosis of hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome) should be considered after infancy in individuals with the following:

  • Nail dystrophy (malformed, thickened, small nails).This is an essential feature of the syndrome. In approximately 30% of affected persons, nail dystrophy may be the only obvious finding during the physical examination at a specific time.
  • Hypotrichosis (partial or total alopecia). The scalp hair is sparse, pale, fine, and brittle. It may be completely absent. The eyebrows are sparse or absent. The eyelashes are short and sparse. Axillary and pubic hair is sparse or absent.
  • Palmoplantar hyperkeratosis (hyperkeratosis of the palms and soles). This is a common but not universal finding.

Molecular Genetic Testing

Gene. GJB6, encoding gap junction protein β6 (connexin-30), is the only gene currently known to be associated with hidrotic ectodermal dysplasia 2 [Kibar et al 1996, Kibar et al 1999, Kibar et al 2000, Lamartine et al 2000, Smith et al 2002].

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in Hidrotic Ectodermal Dysplasia 2

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
GJB6Targeted mutation analysisp.Gly11Arg, p.Ala88Val, p.Val37Glu, p.Asp50Asn100%
Sequence analysisSequence variants 4100%

1. See Table A. Genes and Databases for chromosome locus and protein name.

2. See Molecular Genetics for information on allelic variants.

3. The ability of the test method used to detect a mutation that is present in the indicated gene

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Testing Strategy

To confirm/establish the diagnosis in a proband

  • Initial molecular genetic testing should be targeted mutation analysis for one of the four mutations in GJB6, starting with the most frequent mutation found in the ethnic origin of the individual.
  • If targeted mutation analysis for the four known mutations does not identify a mutation, sequence analysis should be performed.

Predictive testing for at-risk asymptomatic adult family members requires prior identification of the disease-causing mutation in the family.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutation in the family.

Clinical Description

Natural History

Hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome) is characterized by dystrophy of the nails, alopecia (partial or total), hyperpigmentation of the skin (especially over the joints), palmoplantar hyperkeratosis, and clubbing of the fingers. Sweat glands, sebaceous glands, and teeth are normal. The clinical manifestations are highly variable even within the same family.

HED2 can be characterized by dysplastic nails and sparse scalp hair early in life. During childhood, palmoplantar keratoderma may develop.

In infancy, the scalp hair is wiry, brittle, patchy, and pale. Progressive hair loss may lead to total alopecia, usually by puberty. Hair in other parts of the body may also be affected.

In early childhood, the nails may be milky white. They gradually become dystrophic, thick, short, and distally separated from the nail bed. Nail growth is slow.

Palmoplantar keratoderma increases in severity with age.

Teeth and ability to sweat are normal, as are physical growth and psychomotor development.

Genotype-Phenotype Correlations

Although most GJB6 mutations cause the clinical presentations typical of HED2 with involvement of the hair, the nails, and the palmoplantar skin, the p.Gly11Arg and p.Ala88Val mutations can be associated with a clinical picture similar to that of pachyonychia congenita [van Steensel et al 2003] (see Differential Diagnosis).

In one Chinese family, hidrotic ectodermal dysplasia 2 caused by the p.Gly11Arg mutation involved only hair and nails [Chen et al 2010].

Penetrance

Penetrance is likely 100% [Author, personal observation].

Anticipation

Anticipation is not noted in HED2.

Nomenclature

When referring to HED2 (Clouston syndrome), the nonspecific term 'hidrotic ectodermal dysplasia' should not be used, as other forms of ectodermal dysplasia are associated with normal sweating.

Prevalence

HED2 is relatively common in the French-Canadian population of southwest Quebec [Kibar et al 2000]. However, this condition has also been reported in the US, particularly in Vermont, upstate New York, and Louisiana among communities of French-Canadian origin, as well as among populations of African, Chinese, French, Indian, Irish, Malaysian, Scottish, Spanish, and Ashkenazi Jewish origin [Radhakrishna et al 1997, Taylor et al 1998, Kibar et al 2000, Zhang et al 2003, Baris et al 2008]

Differential Diagnosis

Various types of hidrotic ectodermal dysplasia exist, and it is likely that new types will be described [Megarbane et al 1998, Lamartine 2003, van Steensel et al 2004].

Hidrotic ectodermal dysplasia 2 (HED2) must be differentiated from the following ectodermal dysplasias that can affect nails and hair. Ability to sweat and oligodontia in these disorders are variable.

  • Hypotrichosis-deafness syndrome
  • Pachyonychia congenita type 1 (PC-1), characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, blistering oral leukokeratosis, palmoplantar hyperhidrosis, and follicular keratoses on the trunk and extremities. The two keratin genes known to be associated with PC-1 are KRT6A (encoding keratin, type II cytoskeletal 6A) and KRT16 (encoding keratin, type I cytoskeletal 16).
  • Autosomal dominant and autosomal recessive forms of hypohidrotic ectodermal dysplasia (HED), characterized by sparseness of scalp and body hair, hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth) evident in childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, later than average. Three clinically similar but genetically distinct forms of HED exist. The X-linked recessive (caused by mutation in EDA) and autosomal recessive forms (EDAR and EDARADD) are indistinguishable; the autosomal dominant form (EDAR and EDARADD) is milder in expression.

In rare cases, HED2 can mimic certain aspects of KID syndrome, with an erythrokeratoderma and sensorineural deafness [Jan et al 2004].

A novel missense mutation of GJB2 associated with thin hair, deafness, and nail dystrophy resembles HED2 with deafness [van Steensel et al 2004].

Rafiq et al [2005] studied an autosomal recessive form of ectodermal dysplasia (ED) in 13 individuals over six generations from a consanguineous Pakistani family. The clinical features include severely dystrophic nails and thin scalp hair, fine eyebrows and eyelashes, and thin body hair. Linkage analysis mapped the ED-related gene on chromosome 10q24.32-q25.1 at a 3.92 cM interval flanked by markers D10S1710 and D10S1741 [Rafiq et al 2005].

Naeem et al [2006] described a form of ED in a large consanguineous Pakistani kindred with multiple affected individuals. DNA analysis revealed a homozygous missense mutation of the keratin gene (KRTHB5), in the hair matrix and cuticle.

Isolated nail dystrophy can also be a finding of Darier's disease and acquired disorders such as lichen planus and psoriasis. Associated symptoms and history should allow easy differentiation.

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome), a thorough examination of the nails, hair, and skin is recommended.

Treatment of Manifestations

Dystrophic nails. Artificial nails may improve the appearance of the hands/feet, and may be especially helpful to young girls and women.

Hypotrichosis. No special pharmaceutical agent is available to improve hair growth. Alopecia was found to respond to treatment with a combination of topical minoxidil and tretinoin in an individual with probable congenital hidrotic ectodermal dysplasia [Melkote et al 2009]. The individual’s clinical findings were compatible with the clinical diagnosis of HED2; however, the diagnosis was not confirmed with molecular genetic testing. The authors also noted that the efficacy and safety of long-term treatment need to be explored further.

Special hair care products may help to manage dry and sparse hair.

In many cases, wigs are helpful.

Palmoplantar hyperkeratosis. Skin emollients may help relieve palmoplantar hyperkeratosis.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

Note: Although almost all individuals diagnosed with HED2 have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members.

Sibs of a proband

  • The risk to the sibs of the proband depends on the genetic status of the proband's parents.
  • If a parent of the proband is affected, the risk to the sibs is 50%.
  • When the parents are clinically unaffected and a disease-causing mutation cannot be detected in DNA extracted from the leukocytes of either parent, the risk to sibs of the proband is low.
  • If a disease-causing mutation in the proband cannot be detected in the DNA of either parent, the two possible explanations are either germline mosaicism in a parent or a de novo mutation in the proband. The risk to the sibs of the proband depends on the probability of germline mosaicism in a parent of the proband and the rate of spontaneous mutation of GJB6. Rare instances of germline mosaicism and de novo mutations have been reported in other disorders. In both hypothetical instances, the risk that a sib will be affected would be significantly below 1%.

Offspring of a proband. Each child of an individual affected with HED2, irrespective of gender, has a 50% chance of inheriting the mutation and being affected.

Other family members of a proband. The risk to other family members depends on the status of the proband's parents. If a parent is affected, his or her family members are at risk.

Related Genetic Counseling Issues

Considerations in families with an apparent de novo mutation. When neither parent of a proband with an autosomal dominant condition has the disease-causing mutation or clinical evidence of the disorder, it is likely that the proband has a de novo mutation. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

Prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at about 15 to 18 weeks' gestation or chorionic villus sampling (CVS) at about ten to 12 weeks' gestation. The disease-causing allele of an affected family member must be identified before prenatal testing can be performed.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Requests for prenatal testing for conditions such as HED2 are not common. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the parents, discussion of these issues is appropriate.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutation has been identified.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Ectodermal Dysplasia Society
    108 Charlton Lane
    Cheltenham Gloucestershire GL53 9EA
    United Kingdom
    Phone: 01242 261332
    Email: diana@ectodermaldysplasia.org
  • Medline Plus
  • National Foundation for Ectodermal Dysplasias (NFED)
    410 East Main Street
    PO Box 114
    Mascoutah IL 62258-0114
    Phone: 618-566-2020
    Fax: 618-566-4718
    Email: info@nfed.org
  • Ectodermal Dysplasias International Registry
    National Foundation for Ectodermal Dysplasias
    410 East Main Street
    Mascoutah IL 62258
    Phone: 618-566-2020
    Fax: 618-566-4718
    Email: info@nfed.org

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A. Hidrotic Ectodermal Dysplasia 2: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Hidrotic Ectodermal Dysplasia 2 (View All in OMIM)

129500CLOUSTON SYNDROME
604418GAP JUNCTION PROTEIN, BETA-6; GJB6

Normal allelic variants. GJB6 has one exon, which is not interrupted by introns.

Pathogenic allelic variants. Four GJB6 mutations are associated with hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome). Lamartine et al [2000] found a 31G>A transition in GJB6 leading to a p.Gly11Arg missense mutation. They also found a 263C>T transition leading to a p.Ala88Val missense mutation. Smith et al [2002] reported a novel mutation p.Val37Glu within the first transmembrane domain of connexin-30 (gap junction beta-6 protein). The amino acid substitution arose from a heterozygous 110T-to-A transversion in GJB6 [Smith et al 2002]. Baris et al [2008] reported another novel mutation p.Asp50Asn resulting from a G>A transition affecting the E1 first extracellular loop of the connexin 30 molecule. Two other GJB6 mutations are responsible for nonsyndromic sensorineural hearing loss.

Table 2. Selected GJB6 Pathogenic Allelic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReferences
c.31G>Ap.Gly11ArgLamartine et al [2000]
Smith et al [2002]
Baris et al [2008]
c.263C>Tp.Ala88Val
c.110T>Ap.Val37Glu
c.148G>Ap.Asp50Asn

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. Gap junction beta-6 protein comprises 261 amino acids and four transmembrane domains, two extracellular domains, and three cytoplasmic domains including the amino- and carboxy-terminal regions. Gap junction beta-6 protein, with five other similar subunits, forms a gap junction channel, the connexon, which mediates the direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. GJB6 is expressed most abundantly in brain and skin.

Abnormal gene product. The presence of the mutated connexin protein may possibly lead to a defect in trafficking of other connexins, since their oligomerization is complete upon entry into the Golgi apparatus [Evans et al 1999, van Steensel 2004]. Several mutations in connexin genes affect trafficking of the protein [Common et al 2002]. The association of HED2 with three different mutations in GJB6 supports this idea. In that case, the mutations of GJB6 should interfere with its incorporation into the gap junction. So far, this hypothesis has not been experimentally validated [van Steensel 2004].

References

Literature Cited

  1. 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;159:1373–8. [PubMed: 18717672]
  2. Chen N, Xu C, Han B, Wang ZY, Song YL, Li S, Zhang RL, Pan CM, Zhang L. G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. J Dermatol. 2010;37:559–61. [PubMed: 20536673]
  3. Common JE, Becker D, Di WL, Leigh IM, O'Toole EA, Kelsell DP. Functional studies of human skin disease and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun. 2002;298:651–6. [PubMed: 12419304]
  4. del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:1452–8. [PMC free article: PMC1180408] [PubMed: 14571368]
  5. Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C. Connexin 26 gene linked to a dominant deafness. Nature. 1998;393:319–20. [PubMed: 9620796]
  6. Evans WH, Ahmad S, Diez J, George CH, Kendall JM, Martin PE. Trafficking pathways leading to the formation of gap junctions. Novartis Found Symp. 1999;219:44–54. [PubMed: 10207897]
  7. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet. 1999;23:16–8. [PubMed: 10471490]
  8. Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004;122:1108–13. [PubMed: 15140211]
  9. 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;5:543–7. [PubMed: 8845850]
  10. 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;8:372–80. [PubMed: 10854098]
  11. Kibar Z, Lafreniere RG, Chakravarti A, Wang JC, Chevrette M, Der Kaloustian VM, Rouleau GA. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. Genomics. 1999;56:127–30. [PubMed: 10036193]
  12. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. 2003;28:351–5. [PubMed: 12823289]
  13. Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître 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;26:142–4. [PubMed: 11017065]
  14. Megarbane A, Noujeim Z, Fabre M, Der Kaloustian VM. New form of hidrotic ectodermal dysplasia in a Lebanese family. Am J Med Genet. 1998;75:196–9. [PubMed: 9450885]
  15. Melkote S, Dhurat RS, Palav A, Jerajani HR. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. Int J Dermatol. 2009;48:184–5. [PubMed: 19200200]
  16. Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet. 2006;43:274–9. [PMC free article: PMC2563238] [PubMed: 16525032]
  17. Radhakrishna U, Blouin JL, Mehenni H, Mehta TY, Sheth FJ, Sheth JJ, Solanki JV, Antonarakis SE. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet. 1997;71:80–6. [PubMed: 9215774]
  18. Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. J Invest Dermatol. 2005;124:338–42. [PubMed: 15675952]
  19. Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002;118:530–2. [PubMed: 11874494]
  20. Taylor TD, Hayflick SJ, McKinnon W, Guttmacher AE, Hovnanian A, Litt M, Zonana J. Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. J Invest Dermatol. 1998;111:83–5. [PubMed: 9665391]
  21. van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003;121:1035–8. [PubMed: 14708603]
  22. van Steensel MA, Steijlen PM, Bladergroen RS, Hoefsloot EH, van Ravenswaaij-Arts CM, van Geel M. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol. 2004;123:291–3. [PubMed: 15245427]
  23. van Steensel MA. Gap junction diseases of the skin. Am J Med Genet. 2004;131C:12–9. [PubMed: 15468169]
  24. 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;32:11–7. [PubMed: 12788524]

Chapter Notes

Revision History

  • 3 February 2011 (me) Comprehensive update posted live
  • 7 August 2007 (me) Comprehensive update posted site
  • 25 April 2005 (me) Review posted to live Web site
  • 23 November 2004 (vdk) Original submission
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