Focal dermal hypoplasia: A novel finding in disguise

Abstract

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 condition This 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.

Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations

“…Regarding oral manifestations, there are many alterations associated with FDH ( Table 1 ) 2 3 4 5 6 7 8 9 11 12 14 15 16 17 18 19 20 . Our patient had atrophy of the lips and perioral region, microstomia, and raspberry-like papilloma in the upper lip ( Fig.…”

Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia

“…Skeletal abnormalities include cleft palate, high arched palate, prognathism, micrognathia, and prominent or pointed chins [4,7,8]. Dental manifestations have been reported in more than half of FDH cases [9], such as hypodontia or oligodontia, microdontia, supernumerary teeth, malocclusion, spacing, taurodontism, gemination, fusion, grooving of the teeth, and deficiency in quantity and/or quality of the enamel and the dentine [4,[8][9][10]. The presence of these manifestations can explain the extensive caries observed in several cases of Goltz syndrome [9].…”

“…The presence of these manifestations can explain the extensive caries observed in several cases of Goltz syndrome [ 9 ]. Tongue hemi-hypoplasia, long-pointed deviated tongue, median cleft of tongue, absence of lingual frenulum, or double lingual frenulum can be observed [ 8 , 10 , 11 ]. Moreover, oral papilloma is one of the most commonly reported symptoms in the literature [ 11 ].…”

“…Moreover, oral papilloma is one of the most commonly reported symptoms in the literature [ 11 ]. Other oral soft tissue manifestations can be observed, such as gingival hypertrophy and gingivitis, oral lipoma, high or double labial frenulum, and cleft lip [ 8 , 9 ]. The orofacial features vary in each case, but are mostly present (~80%) [ 12 ].…”