Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

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. 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. Treatment is generally symptomatic and supportive.

Last updated on 05-01-20

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. 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. 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). 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 on 05-01-20

Name: National Foundation for Ectodermal Dysplasias 6 Executive Drive Suite 2
Fairview Heights, IL, 62258-1360, United States
Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
Name: The Ectodermal Dysplasia Society Unit 1 Maida Vale Business Centre Leckhampton
Cheltenham Gloucestershire GL53 7ER
United Kingdom
Phone: +44 (0) 1242 261332 Email: info@edsociety.co.uk Url: https://edsociety.co.uk/
Name: American Thyroid Association 6066 Leesburg Pike, Suite 550
Falls Church, VA, 22041, United States
Phone: 703–998–8890 Toll Free: 800–THYROID (849–7643) Fax : 703–998–8893 Email: admin@thyroid.org Url: http://www.thyroid.org
Name: Canadian Ectodermal Dysplasia Syndromes Association CEDSA 124 Lochiel Street
Renfrew, Ontario K7V 1W7, Canada
Phone: +1-613-432-9732 Email: meghan@ectodermaldysplasia.ca Url: http://www.ectodermaldysplasia.ca/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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