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Hidrotic Ectodermal Dysplasia 2

Synonyms: Clouston Hidrotic Ectodermal Dysplasia, Clouston Syndrome

, MD.

Author Information

Initial Posting: ; Last Update: January 22, 2015.

Estimated reading time: 15 minutes


Clinical 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.


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 analysis for the four most common GJB6 pathogenic variants detects pathogenic variants in approximately 100% of affected individuals. Sequence analysis can be used when none of the four known pathogenic variants is identified.


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 pathogenic variants have also been reported. Offspring of affected individuals have a 50% chance of inheriting the pathogenic variant and being affected. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in an affected family member is known; however, requests for prenatal testing for conditions such as HED2 are not common.


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); 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, or 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); a common but not universal finding

Molecular Genetic Testing

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

Table 1.

Molecular Genetic Testing Used in Hidrotic Ectodermal Dysplasia 2

Gene 1MethodProportion of Probands with a Pathogenic Variant Detectable by Method
GJB6Targeted analysis for pathogenic variants 2100% 3
Sequence analysis 4100%
Deletion/duplication analysis 5None reported

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.


Pathogenic variants detected include: p.Gly11Arg, p.Ala88Val, p.Val37Glu, p.Asp50Asn. See Molecular Genetics for populations with these pathogenic variants. Note: Pathogenic variants included in a panel may vary by laboratory.


100% of the targeted pathogenic variants


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

Testing Strategy

To confirm/establish the diagnosis in a proband

Molecular genetic testing approaches can include the following:

  • Targeted analysis for the four known pathogenic variants in GJB6 should be the initial molecular genetic testing approach.
    If targeted analysis for the four known pathogenic variants does not identify a pathogenic variant, sequence analysis should be performed [Lamartine et al 2000].
  • Use of a multigene panel that includes GJB6 and other genes of interest is another option. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if single-gene testing (and/or use of a multigene panel that contains GJB6) fails to confirm a diagnosis in an individual with features of HED2.
    For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Clinical Characteristics

Clinical Description

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

Whereas most GJB6 pathogenic variants cause the clinical presentations typical of HED2 (i.e., with involvement of the hair, nails, and palmoplantar skin), the p.Gly11Arg and p.Ala88Val pathogenic variants 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 pathogenic variant involved only hair and nails [Chen et al 2010].


Penetrance is high [Hayflick et al 1996], likely 100% [Author, personal observation].


Anticipation is not noted in HED2.


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.


HED2 is relatively common in the French-Canadian population of southwest Quebec [Kibar et al 2000]. The condition has also been reported in the US, particularly in Vermont, upstate New York, and Louisiana among communities of French-Canadian ancestry as well as among populations of African, Chinese, French, Indian, Irish, Malaysian, Scottish, Spanish, and Ashkenazi Jewish ancestry [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 [Mégarbané 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 [van Steensel et al 2004]
  • Pachyonychia congenita (PC), characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts, palmoplantar hyperhidrosis, and follicular keratoses on the trunk and extremities. Pachyonychia congenita is caused by a pathogenic variant in one of the following genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. PC is inherited in an autosomal dominant manner.
  • 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 (caused by mutation of 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 (OMIM 148210), with an erythrokeratoderma and sensorineural deafness [Jan et al 2004].

A novel pathogenic missense variant in 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) (OMIM 614927) 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 (OMIM 602032) in a large consanguineous Pakistani kindred with multiple affected individuals. DNA analysis revealed a homozygous pathogenic missense variant in the keratin gene (KRTHB5), in the hair matrix and cuticle.

Isolated nail dystrophy can also be a finding of Darier disease (OMIM 124200) and acquired disorders such as lichen planus and psoriasis. Associated symptoms and history should allow easy differentiation.

See Ectodermal dysplasia (select examples): OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome), a thorough examination of the nails, hair, and skin is recommended. Clinical genetics consultation may also be considered.

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 in the US and EU Clinical Trials Register in Europe 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

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 GJB6 pathogenic variant cannot be detected in DNA extracted from the leukocytes of either parent, the risk to sibs of the proband is low.
  • If the GJB6 pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the risk to 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 pathogenic variants have been reported in other disorders. In both hypothetic instances, the risk that a sib will be affected would be significantly below 1%.

Offspring of a proband. Each child of an individual with HED2, irrespective of gender, has a 50% chance of inheriting the GJB6 pathogenic variant 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 pathogenic variant. When neither parent of a proband with an autosomal dominant condition has the pathogenic variant or clinical evidence of the disorder, the pathogenic variant is likely de novo. 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, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Testing

Once the GJB6 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for HED2 are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.


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
  • 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
  • Ectodermal Dysplasias International Registry
    National Foundation for Ectodermal Dysplasias
    410 East Main Street
    Mascoutah IL 62258
    Phone: 618-566-2020
    Fax: 618-566-4718

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 from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

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


Gene structure. GJB6 has one exon, which is not interrupted by introns. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. See Table 2.

Table 2.

Selected GJB6 Pathogenic Variants

DNA Nucleotide ChangePredicted Protein ChangeReferences
c.31G>A 1, 2p.Gly11ArgLamartine et al [2000]
Smith et al [2002]
Baris et al [2008]
c.263C>T 3p.Ala88Val
c.110T>A 4, 6p.Val37Glu
c.148G>A 5p.Asp50Asn

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


Found in individuals of French, French-Canadian, African, Spanish, Scottish-Irish, and Chinese ancestry [Lamartine et al [2000]


Found in individuals of Indian, Malaysian, and Welsh ancestry


Found in a simplex case (i.e., a single affected individual in a family) of Scottish ancestry


Affects the first extracellular loop of the connexin 30 molecule; found among individuals of Ashkenazi Jewish ancestry


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 protein may lead to a defect in trafficking of other gap junction protein subunits, since their oligomerization is complete upon entry into the Golgi apparatus [Evans et al 1999, van Steensel 2004]. Several pathogenic variants in genes encoding related gap junction proteins result in mistrafficking of the protein [Common et al 2002]. The association of HED2 with four different pathogenic variants in GJB6 supports this idea. In that case, the pathogenic variants of GJB6 should interfere with its incorporation into the gap junction. So far, this hypothesis has not been experimentally validated [van Steensel 2004]. However, evidence was provided that GJB6 could be a transcriptional target gene of p63, elucidating further the process of the development of the skin and the morphogenesis of its appendages [Fujimoto et al 2013].

Cancer and Benign Tumors

Certain hidrotic ectodermal dysplasia 2 variants may be associated with eccrine syringofibroadenomas, a rare benign neoploasm derived from acrosyringium cells of the eccrine sudoriferous glands [Andrade et al 2014].


Literature Cited

  • Andrade AC, Vieira DC, Harris OM, Pithon MM. Cloouston syndrome associated with eccrine syringofibroadenoma. An Bras Dermatol. 2014;89:504–6. [PMC free article: PMC4056714] [PubMed: 24937830]
  • 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;159:1373–6. [PubMed: 18717672]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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;69:159–66. [PubMed: 23219093]
  • 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]
  • Hayflick SJ, Taylor T, McKinnon W, Guttmacher AE, Litt M, Zonana J. Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. J Invest Dermatol. 1996;107:11–4. [PubMed: 8752831]
  • 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]
  • 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]
  • 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]
  • 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]
  • Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. 2003;28:351–5. [PubMed: 12823289]
  • 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]
  • Mégarbané 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002;118:530–2. [PubMed: 11874494]
  • 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]
  • van Steensel MA. Gap junction diseases of the skin. Am J Med Genet. 2004;131C:12–9. [PubMed: 15468169]
  • 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]
  • 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]
  • Yang JJ, Huang SH, Chou KH, Liao PJ, Su CC, Li SY. Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol Neurootol. 2007;12:198–208. [PubMed: 17259707]
  • 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

  • 22 January 2015 (me) Comprehensive update posted live
  • 3 February 2011 (me) Comprehensive update posted live
  • 7 August 2007 (me) Comprehensive update posted live
  • 25 April 2005 (me) Review posted live
  • 23 November 2004 (vdk) Original submission
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