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Medical condition
Focal dermal hypoplasia
Other names
Goltz syndrome
This condition is inherited in an X-linked dominant manner.
Specialty
Medical genetics
Focal dermal hypoplasia is a form of ectodermal dysplasia.[1] It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes.[2] The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.[3]
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 978-0-7216-2921-6.
^Goltz RW, Henderson RR, Hitch JM, Ott JE (2008). "Focal dermal hypoplasia syndrome. A review of the literature and report of two cases". Archives of Dermatology. 101 (1). GeneReviews: 1–11. doi:10.1001/archderm.101.1.1. PMID 5416790.
^Kanemura H, Hatakeyama K, Sugita K, Aihara M (2011). "Epilepsy in a patient with focal dermal hypoplasia". Pediatric Neurology. 44 (2): 135–8. doi:10.1016/j.pediatrneurol.2010.08.003. PMID 21215914.
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