Hypohidrotic ectodermal dysplasia

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.

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.