Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia

Clinical Features

Pabst et al. (1981) reported 2 brothers with hypohidrotic ectodermal dysplasia, primary hypothyroidism of gradual development in early childhood, and ciliary dyskinesia or dysgenesis in the bronchial epithelium leading to or at least contributing to severe recurrent chest infections. In addition to sparse hair of the head and eyebrows and a shriveled appearance of several fingernails and toenails, the brothers showed urticaria pigmentosa-like skin and mucosal pigmentation with increased mast cells and melanin deposition. Eyelashes and teeth were normal. Electron microscopy showed abnormality of the microtubular structure in bronchial cilia. Pike et al. (1986) described this disorder in a girl and suggested the acronym ANOTHER (alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy, and respiratory tract infections) for this disorder.

Animal Model

Pabst (1980) pointed out that the 'nude' mouse combines ciliary abnormality and thymic cysts with ectodermal dysplasia (Cordier (1974, 1976)).