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GlossaryClouston Syndrome

Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic disorder characterized by hair loss, nail abnormalities, and skin changes. It is caused by mutations in the GJB6 gene, which encodes a protein essential for the function of gap junctions in epithelial cells. Individuals with Clouston syndrome typically experience hair thinning or complete alopecia, often accompanied by the presence of thickened or ridged nails. This condition highlights the intricate relationship between genetic factors and hair biology, particularly in the development and maintenance of hair follicles.

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research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

39 citations , July 1997 in “American Journal of Medical Genetics”

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

research Clouston syndrome associated with eccrine syringofibroadenoma

18 citations , June 2014 in “Anais Brasileiros de Dermatologia”

Clouston Syndrome can be linked to rare sweat gland tumors.

research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?

9 citations , October 1995 in “Clinical Dysmorphology”

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma

November 2025 in “Indian Dermatology Online Journal”

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation

October 2023 in “Case reports in dermatological medicine”

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

September 2022 in “Indian Journal of Paediatric Dermatology”

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

research Clouston’s Syndrome-A Case Report

March 2021 in “Annals of King Edward Medical University”

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

research Clouston’s syndrome: a rare case report

August 2020 in “International Journal of Research in Dermatology”

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

January 2026 in “Animal Genetics”

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

research Painful thickened skin on the soles of the feet

September 2022 in “JAAD case reports”

The man has a genetic skin condition called pachyonychia congenita.

Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin

research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin

20 citations , January 2009 in “International Journal of Dermatology”

Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.

research What every physician should know about polycystic ovary syndrome

33 citations , September 2008 in “Dermatologic therapy”

Doctors should know how to diagnose and treat PCOS, which often involves checking for high male hormone levels and using medications to manage symptoms.

research Promising Results with 2% Minoxidil Solution in Loose Anagen Hair Syndrome in a Pediatric Age Group: A Case Report

May 2023 in “International journal of science and research”

2% minoxidil solution improved hair density and quality in children with Loose Anagen Hair Syndrome.

research Metabolic features of the reproductive phenotypes of polycystic ovary syndrome

286 citations , January 2009 in “Human Reproduction Update”

Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.

A Comprehensive Approach in Diagnosing Polycystic Ovary Syndrome

research A Comprehensive Approach in Diagnosing the Polycystic Ovary Syndrome

5 citations , March 2015 in “Women's Health”

The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.

research Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome

33 citations , January 2016 in “Skin appendage disorders”

The document concludes that sexual and psychiatric side effects from 5-alpha-reductase inhibitors are reported, but more high-quality research is needed to understand how often they occur.

research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

October 2023 in “Journal of dermatological science”

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

research Hair and nail disorders of childhood

7 citations , December 2008 in “Expert Review of Dermatology”

The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.

research Disorders of the Hair and Nails

1 citations , January 2013 in “Elsevier eBooks”

The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.

research Hypotrichosis in a child with olmsted syndrome

January 2018 in “Indian Dermatology Online Journal”

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

research Highlights

April 2016 in “JAMA Dermatology”

Acne is not a key diagnostic feature for PCOS, postadolescent men with acne may have insulin resistance, melanoma patients often have few moles, tumor size in CSCC indicates higher risk of serious outcomes, and hidradenitis suppurativa is linked to higher risk of heart problems and death.

research Congenital atrichia and hypotrichosis

11 citations , May 2011 in “World Journal of Pediatrics”

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

research Subclinical hypothyroidism does not influence the metabolic and hormonal profile of women with PCOS

8 citations , June 2017 in “Hormone Molecular Biology and Clinical Investigation”

Mild thyroid issues don't affect the metabolism and hormones of women with PCOS.

research Inherited Disorders of the Hair

2 citations , January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

9 citations , August 2021 in “Journal of clinical medicine”

Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.

research Ectodermal Dysplasia: Variable Expressions

November 2025 in “Indian Journal of Dermatology”

Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.

Molecular Pathology of Skin Adnexal Tumors

research Molecular pathology of skin adnexal tumours

16 citations , July 2021 in “Histopathology”

New markers and pathways have been found in skin tumors, helping better understand and diagnose them.

research Current Genetics in Hair Diseases

1 citations , February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research Anti-anginal and beta-adrenoceptor blocking drugs

January 1983 in “Side effects of drugs annual”

Beta-blockers and anti-anginal medications have various side effects and interactions that require careful monitoring and individualized treatment.