The Journal of Laryngology & Otology September 2002, Vol. 116, pp. 742–743 Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea S. C. A. Winter, M.R.C.S., G. J. Bates, F.R.C.S. Abstract Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by abnormalities to ectodermal derived tissues although other organs or systems are frequently involved. Patients with HED can have a number of symptoms that may lead them to present to the otolaryngologist. We present a case of a 37-year-old female with HED who initially presented with nasal obstruction but then very rapidly developed stridor due to a tracheal squamous cell carcinoma. We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported. Key words: Ectodermal Dysplasia; Carcinoma, Squamous Cell Introduction Ectodermal dysplasia (ED) was rst described by Thurnman in 1848, 1 since then over 170 different pathologic clinical conditions have been described. 2 They all share as common features anomalies of ectodermal derived tissue, however, it is now recognized that the effects are more widespread. 3 The condition is rare with an estimated incidence of 1:100.000. 4 Hypohidrotic ectodermal dysplasia (HED) is character- ized by abnormalities in hair, teeth, nails and sweat glands, 5 it may be inherited as X-linked recessive, autosomal dominant, or as an autosomal recessive trait. 2 Patients with HED frequently present to the otolaryngol- ogist, therefore familiarity with the condition is important. Squamous cell carcinoma (SCC) has been associated with HED in both the skin 6 and nail beds, 7 however, no reports have previously suggested an association with squamous cell carcinoma of the upper respiratory tract. We present a case of a female with HED and primary SCC of the trachea, that was notable for its very rapid progression. Case report A 37-year-old non-smoking female initially presented with nasal blockage. She was known to suffer with HED, that had been diagnosed at birth. At the initial consultation she was found to have a deviated nasal septum, and a nasal saddle deformity, characteristic of HED. Following a full consultation, which included an explanation of how her condition may be contributing to her symptoms she elected to undergo a septorhinoplasty. Her father suffered from HED and one of two sisters had also been diagnosed with the condition. She had characteristic signs of HED including, baldness, nail dystrophy, and dry non-sweating skin. In the past she had had subcutaneous tissue expansion to her chest but was otherwise well. Following her initial consultation she successfully under- went a septorhinoplasty procedure, with a general anaes- thetic, and endotracheal intubation. Three weeks following the procedure she re-presented with symptoms of worsening shortness of breath, and occasional haemoptysis that she attributed to the endotracheal intubation. Full clinical examination was unremarkable, she had no stridor and no chest signs, a chest radiograph was reported as normal. Therefore she underwent bronchoscopy, which found crusting within the trachea, but no focal lesions (Figure 1). A swab taken at that time cultured Staphylococcus aureus. From the Department of Otolaryngology, Radcliffe Inrmary, Oxford, UK. Accepted for publication: 20 March 2002. Fig. 1 Subglottic crusting seen at bronchoscopy. 742