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

作者：Lasocki Anita L^*; Stark Zornitza; Orchard David

来源：Australasian Journal of Dermatology, 2011, 52(1): 48-51.

DOI：10.1111/j.1440-0960.2010.00662.x

• PORCN gene
• Wnt signalling
• X-linked dominant

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.

• 出版日期2011-2