Focal dermal hypoplasia: A novel finding in disguise

摘要

Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures.We present a case report on the management of a 58 year old Caucasian male with Focal Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Intraosseous lipomas in the head and neck region are reported in only seventeen cases in isolation of any associated syndrome.Diagnosis was hindered due to similitude with Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome) which despite similar nomenclature, is an exclusively separate conditionThis novel finding encourages clinicians to consider unusual differential diagnoses in such cases and highlights the importance of avoiding eponyms to prevent confusion with similar conditions