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Clouston syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Clouston syndrome

Clouston syndrome is a form of ectodermal dysplasia characterized by abnormalities of the hair, nails, and skin.

Overview

Clouston syndrome is a genetic condition affecting ectodermal structures. Unlike other forms of ectodermal dysplasia, the teeth and sweat glands are typically unaffected. Key features include:

  • Hair: Scalp hair is sparse, fragile, and light in color from infancy, often progressing to total hair loss (alopecia) by puberty. Eyelashes, eyebrows, and body hair are also sparse or absent.
  • Nails: Nail dystrophy is a hallmark feature. Nails may appear white in early childhood, growing slowly and becoming thick and misshapen.
  • Skin: Affected individuals often have thick skin on the palms and soles (palmoplantar hyperkeratosis), darkened skin over joints (hyperpigmentation), and clubbing of the fingertips.

Causes

The syndrome is caused by mutations in the GJB6 gene, which provides instructions for making the protein connexin 30. This protein forms gap junctions—channels that allow the transport of nutrients, ions, and signaling molecules between cells. Connexin 30 is essential for the growth and development of skin, hair follicles, and nail beds. Mutations in this gene lead to abnormalities in the growth, division, and maturation of cells in these tissues.

Inheritance

Clouston syndrome is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals inherit the mutation from an affected parent, though some cases result from new mutations in people with no family history of the condition.

Frequently Asked Questions

Sequencing of the GJB6 gene to identify the pathogenic connexin 30 mutation is recommended. A confirmed mutation allows targeted carrier testing for parents, siblings, and at‑risk adult relatives, and enables prenatal or pre‑implantation genetic diagnosis for future pregnancies.
Clouston syndrome is characterized by the triad of sparse/fragile scalp hair, nail dystrophy, and palmoplantar hyperkeratosis while teeth and sweat glands remain normal; the presence of normal dentition and sweating helps separate it from conditions like hidrotic ectodermal dysplasia or hypohidrotic ectodermal dysplasia.
Topical keratolytics (e.g., urea or salicylic acid creams) can soften hyperkeratotic nails, and regular nail trimming may improve appearance. Hair loss is usually progressive; low‑level laser therapy or cosmetic wigs are the main supportive options, as no medication reverses the underlying genetic defect.
Unlike many ectodermal dysplasias, sweat glands are typically normal in Clouston syndrome, so thermoregulation is usually preserved; however, thickened palmoplantar skin can reduce heat dissipation locally, so patients should stay hydrated and avoid prolonged exposure to extreme heat.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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