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Rare disease
Case report
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK
  1. Alexander Freethy,
  2. Vikas Acharya,
  3. Aphrodite Iacovidou and
  4. Ali Taghi
  1. Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK
  1. Correspondence to Dr Vikas Acharya; vikas.acharya{at}doctors.org.uk

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 CO2 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.

  • ear, nose and throat
  • ear, nose and throat/otolaryngology
  • endoscopy
  • genetics

https://doi.org/10.1136/bcr-2019-231809

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    Footnotes

    • Contributors VA, corresponding author, can confirm that all authors were involved in the care pathway of the patient and have all contributed towards this submission. Specifically, VA and AF, were the key persons involved in writing the drafts of this case report. AI and VA were involved in seeing the patient, explaining the process of the case report, obtaining consent and assisted with the proof reading of and editing of this case report prior to this submission. AT was the senior clinician supervising this patient’s care and was involved in proof reading the manuscript, providing feedback and overseeing the project to submission. All authors have fairly contributed to this submission, and have been involved throughout the writing, reviewing and submission journey.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.