A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature

Duncan Lyons, Christopher Rushton, Sandeepal Sidhu


Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism. This report details a 48-year-old male diagnosed with predominately unilateral focal dermal hypoplasia that was reviewed decades post his initial diagnosis. He presented with multiple atrophic hyperpigmented macules and fat herniation along the lines of Blaschko, across primarily the right side of the body. Skin biopsy is the mainstay for the diagnosis and therefore dermatologists need to be aware of the classical cutaneous findings of familial dermal hypoplasia to ensure accurate diagnosis. Familial dermal hypoplasia is best managed through the collective minds of multidisciplinary teams.

J Med Cases. 2020;11(3):61-64
doi: https://doi.org/10.14740/jmc3442


Focal dermal hypoplasia; Goltz syndrome; Male; Unilateral; X-linked dominant condition; Fat herniation

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