Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology

“…Patients with HED are reported to have sore throat and acute pharyngo-laryngitis and are predisposed to pulmonary infections (8,9) and so we assessed larynx and lung pathology in HED mice to determine whether they display pathologies in common with the human condition. Eda Ta mice lack submucosal glands associated with the soft palate, larynx and trachea (8,18) (Figure 8A–H).…”

“…The hypothesis that ear, nose and throat pathology in HED patients arises from impaired mucociliary function associated with hypoplasia/aplasia of glands lining the sinonasal tract and auditory tube (9) is supported, and can now be refined, placing particular importance on the role nasopharyngeal glands and their products.…”

“…These clinical phenotypes have been attributed to reduced sinonasal and auditory tube glands, reduced ciliary function and decreased salivary gland function (9). HED mutant mice have the same structural defects as those in the human condition and can provide a test of this hypothesis and means to further investigate the underlying pathophysiology of ear, nose and throat disease associated with ectodermal dysplasia.…”

Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia

“…6-10 The described hair disorders include partial or total hair loss, chronic dermatitis of the scalp with the formation of crusts (in Rapp-Hodgkin syndrome), heterogeneity of thick stems, trichorrhexis nodosa, pili torti and pili canaliculi, or trichothiodystrophy. [11][12][13][14][15][16] Trichoscopy (videodermoscopy of hair and scalp) is a new method that allows viewing hair shafts in vivo in many-fold magnification without the need of pulling hair. 17,18 We showed that hypotrichosis in this group of patients is most commonly due to predominance of follicular units with single hair (usually hair grows in groups of 2 or 3 hair in 1 follicular unit, and the percentage of pilosebaceous units with 1 hair is usually less than 10%).…”

“…[6][7][8][9][10] Described hair disorders include the partial or total hair loss, chronic dermatitis of the scalp with the formation of crusts (Rapp-Hodgkin syndrome), trichorrhexis nodosa, pili torti, pili canaliculi, or trichothiodystrophy. [11][12][13][14][15][16] In recent years, physicians have utilized an additional diagnostic tool for hair and scalp disorders-trichoscopy (hair and scalp dermoscopy), 17-21 a rapid in-office technique, which has become a standard procedure in differential diagnosis of hair loss. [20][21][22] There are only few reports addressing trichoscopy features in hair genetic disorders and none in the group of patients with ED.…”