Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Δευτέρα 12 Μαρτίου 2018

Focal dermal hypoplasia: A novel finding in disguise

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Publication date: Available online 1 February 2018
Source:Journal of Oral Biology and Craniofacial Research
Author(s): S. Nathwani, K. Martin, R. Bunyan
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 58year 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



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