CLINICAL CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME)

The article presents a clinical case of a rare genetic disease in a newborn child – focal dermal hypoplasia (FDH), or Goltz syndrome. This disease primarily affects females. The girl was born into a family with a 4-year-old healthy daughter. There were no genetic disorders or kinship in family history. The article reviews a variety of clinical manifestations of FDH including skin lesions, skeletal (syndactyly) and eye abnormalities (retinal and chorioids coloboma, dystrophy of the optic nerve). It also presents genetic and molecular testing findings.

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

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.