A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

Authors

  • Anita L Lasocki,

    Corresponding author
    1. Department of Dermatology, The Royal Children's Hospital and
      Dr Anita Lasocki, The Royal Children's Hospital, Department of Dermatology, 50 Flemington Road, Parkville, Vic. 3052, Australia. Email: anita2p@hotmail.com
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  • Zornitza Stark,

    1. Genetic Health Services Victoria and Murdoch Children's Research Institute, Melbourne, Victoria, Australia
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  • David Orchard

    1. Department of Dermatology, The Royal Children's Hospital and
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  • Anita L Lasocki, MBBS (Hons). Zornitza Stark, MA (Oxon) BM BCh. David Orchard, FACD.

Dr Anita Lasocki, The Royal Children's Hospital, Department of Dermatology, 50 Flemington Road, Parkville, Vic. 3052, Australia. Email: anita2p@hotmail.com

ABSTRACT

We present the case of a boy with a clinical diagnosis of Goltz (focal dermal hypoplasia) syndrome. This is a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. It is inherited in an X-linked dominant fashion and is normally lethal in male patients. Mutations in the PORCN gene (Xp11.23), the proteins of which are key regulators in embryonic development, have been found to be responsible for the syndrome. Sequencing of the PORCN gene was negative in our patient. This case highlights some of the challenges of obtaining a molecular diagnosis in male patients with suspected Goltz syndrome in the clinical setting.

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