Clouston syndrome (hidrotic ectodermal dysplasia 2)
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A child with sparse, fine, brittle scalp hair, eyebrows, and eyelashes has thickened and dystrophic nails with slow growth. Sweating is normal. Palms and soles show diffuse hyperkeratosis. Father and paternal grandfather had similar features.
AD; GJB6 (connexin 30). Dominant-negative missense variants in a small region; most cases are recurrent founder mutations (G11R, A88V).
- Hair: sparse to absent scalp hair, eyebrows, eyelashes; pubic and axillary hair sparse after puberty
- Nails: thickened, slow-growing, dystrophic; paronychia common
- Palmoplantar keratoderma with hyperhidrosis OR diffuse thickening
Sweating is normal. This is the defining contrast with hypohidrotic ectodermal dysplasia.
- Clinical recognition (triad + AD inheritance + normal sweating)
- GJB6 sequencing for confirmation; founder variants make targeted testing efficient
- Hypohidrotic ectodermal dysplasia (X-linked, EDA): the key contrast. HED has decreased sweating, conical/missing teeth, and characteristic facies; Clouston preserves sweating and dentition.
- Pachyonychia congenita: focal palmoplantar keratoderma + nail dystrophy but with oral leukokeratosis.
- Nail-patella syndrome: nail dysplasia + skeletal findings.
- Hair: wigs, hair systems; topical minoxidil tried with variable response
- Nails: regular trimming, antifungal/antibiotic treatment of paronychia
- Palmoplantar care: keratolytics, emollients
- Genetic counseling: autosomal dominant, 50% recurrence
"HED is Hot, Clouston is Cool": Hypohidrotic ED has decreased sweating (overheating); Clouston (hidrotic ED) sweats normally.
The Clouston triad: Hair, Nails, Palms. Three things, all from a single connexin-30 defect.