ArticleBMJ case reports2019
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.
Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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-nose-throat 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
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