Leopard syndrome epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
LEOPARD syndrome is a rare condition, but the exact birth prevalence is unknown. Not less than 200 patients have been reported and two reviews published.[1] However, LEOPARD syndrome is likely underdiagnosed or misdiagnosed as many of its features are mild and the correct diagnosis might be missed in the absence of lentiginosis.
Epidemiology and Demographics
Various literature describes it as being rare.[2] There is no epidemiologic data available regarding how many in the world population suffer from the syndrome, however there are slightly over 200 cases described in medical literature. Within the group of the so called 'neuro-cardio-facial-cutaneous' syndromes, LEOPARD syndrome is probably the second most common disorder after Noonan syndrome.[3]
Age
Lentigines may be present at birth or develop during childhood, they become more numerous and darker with age.
Gender
Slightly increased prevalence in men has been documented.
Race
LEOPARD syndrome has no clear racial predilection.
References
- ↑ Voron DA, Hatfield HH, Kalkhoff RK (1976). "Multiple lentigines syndrome. Case report and review of the literature". Am J Med. 60 (3): 447–56. PMID 1258892.
- ↑ "NORD - National Organization for Rare Disorders, Inc". Retrieved 2008-01-20.
- ↑ Bentires-Alj M, Kontaridis MI, Neel BG (2006). "Stops along the RAS pathway in human genetic disease". Nat Med. 12 (3): 283–5. doi:10.1038/nm0306-283. PMID 16520774.