A Case Report Of Goltz Syndrome: A Newborn With Digital Anomalies And Skin Lesions

Lee Von Yen, Leow Poy Lee



Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an uncommon genetically inherited disorder characterized by distinctive skin abnormalities and a wide variety of multisystem defects which was first described by Goltz (an American dermatologist) in 1962. About 200- 300 cases have been reported worldwide. FDH can be inherited in an X-linked dominant manner with in-utero lethality in males. Majority of the cases are sporadic with new mutations arising in the embryo and not inherited from a parent. Approximately 10% of cases occur in males; postzygotic somatic mosaicism accounts for the findings in these affected males. FDH is caused by abnormalities or mutations at the PORCN gene in the X chromosome. We report a case of FDH with characteristic skin lesions as well as multiple digital anomalies - oligodactyly, syndactyly and ectrodactyly.

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