{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:10:04Z","timestamp":1756375804673,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,10,31]]},"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear\u2013nose\u2013throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO<jats:sub>2<\/jats:sub> laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.<\/jats:p>","DOI":"10.1136\/bcr-2019-231809","type":"journal-article","created":{"date-parts":[[2019,12,6]],"date-time":"2019-12-06T05:05:33Z","timestamp":1575608733000},"page":"e231809","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK"],"prefix":"10.1136","volume":"12","author":[{"given":"Alexander","family":"Freethy","sequence":"first","affiliation":[{"name":"Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vikas","family":"Acharya","sequence":"additional","affiliation":[{"name":"Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aphrodite","family":"Iacovidou","sequence":"additional","affiliation":[{"name":"Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Taghi","sequence":"additional","affiliation":[{"name":"Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,12,5]]},"reference":[{"key":"2025082802351206000_12.12.e231809.1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.c.31475","article-title":"International research Symposium on goltz syndrome","volume":"172","author":"Fete","year":"2016","journal-title":"Am. 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Argon plasma coagulation as a treatment of multiple esophageal papillomata in a girl with goltz syndrome. 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