Clouston Syndrome

Synonym

Ectodermal dysplasia, hidrotic

Clouston Syndrome is a Rare Genetic Condition Characterized by Abnormal Nails and Sparse Hair


Nails

  • Severe malformation
  • Spontaneous separation of the nail plate starting at the distal free margin and progressing proximally.
  • Underdeveloped
  • Thick, discolored

Hair

  • Fine, brittle, slow-growing
  • Total balding (alopecia)
  • Missing in spots for males
  • Sparse eyelashes
  • Sparse eyebrow
  • Absent underarm hair
  • Reduced hair strength

 Additional Features Include:


Skin

  • Normal sweating
  • Abnormal thickening of the skin of the palms and soles (palmoplantar hyperkeratosis) that gets worse with age
  • Hyperpigmentation on the knuckles, elbows, axillae, areolae, pubic area

Hands

  • Fluctuation and softening of the nail bed
  • Increased convexity of the nail fold
  • Thickening of the whole end part of the finger (distal) resembling a drumstick
  • Shiny aspect and small grooves of the nails and skin

Eyes

  • Cataracts
  • Light sensitivity (photophobia)
  • Misalignment of the eyes (strabismus)
  • Inflammation of the thin clear tissue that lies over the white part of the eye and lines the inside of the eyelid (conjuctivitis)
  • Inflammation of the eyelids (blepharitis)
  • Sparse eyelashes
  • Sparse eyebrows

Growth

  • Short stature (usually mild)

 

Diagnosing Clouston Syndrome

A physician can diagnose Clouston syndrome on the basis of physical features. Symptoms to look for in individuals include abnormal nails and sparse hair.

Cause of Clouston Syndrome

Clouston syndrome is caused by mutations in the in the gap junction protein, beta-6 gene (GJB6).

Genetic Testing

Testing is available for Clouston syndrome.

Inheritance Pattern

Clouston syndrome is inherited as an autosomal dominant disorder. An affected individual has a 50% chance of passing the condition on to each child.

Learn more about Clouston syndrome on OMIM – (Online Mendelian Inheritance in Man) or the Genetics Home Reference.