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Genetic and Rare Diseases Information Center (GARD)

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Hypohidrotic ectodermal dysplasia


Other Names for this Disease
  • Anhidrotic ectodermal dysplasia
  • Christ-Siemens-Touraine syndrome
  • CST syndrome
  • Ectodermal dysplasia anhidrotic
  • Ectodermal dysplasia, hypohidrotic
More Names
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Your Question

I have this condition and recently have been having symptoms that compare to hypothyroidism. With this condition is hypothyroidism seen very often? I would appreciate any information you could give me relating to hypohidrotic ectodermal dysplasia with hypothyroidism.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is hypohidrotic ectodermal dysplasia known to be associated with hypothyroidism?

An association between hypohidrotic ectodermal dysplasia and hypothyroidism has been described in three individuals in the medical literature - 2 male siblings and one unrelated female.[1] The 2 brothers reportedly had hypohidrotic ectodermal dysplasia, primary hypothyroidism of gradual development in early childhood, and ciliary dyskinesia contributing to severe recurrent chest infections. In addition to sparse hair of the head and eyebrows and a shriveled appearance of fingernails and toenails, the brothers had urticaria pigmentosa-like skin and mucosal pigmentation. Their eyelashes and teeth were supposedly normal. The unrelated female described reportedly had similar findings.[2] Due to these reports, the combination of findings was referred to as a separate condition called hypohidrotic ectodermal dysplasia with with hypothyroidism and ciliary dyskinesia.

Hypothyroidism in general has been reported to occur in about 3.7% of the population (approximately 1 in 27 individuals).[3] It is theoretically possible for an individual to have both hypohidrotic ectodermal dysplasia and hypothyroidism as distinct conditions without having the rare condition described above.
Last updated: 3/28/2012

What is hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia?

Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner.[1] Treatment is generally symptomatic and supportive.
Last updated: 3/28/2012

References