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Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I (NF-1), but other features are required to diagnose NF-1. [2] Familial multiple cafe-au-lait spots have been observed without an NF-1 diagnosis. [9] Noonan syndrome
Jaffe–Campanacci syndrome is one of the disorders associated with café au lait macules (CALMs). Presentations may include intellectual disability, disseminated non-ossifying fibromas of the long bones and jaw, hypogonadism or cryptorchidism, or giant cell granulomas of the jaw. [2] It was characterized in 1958 and 1983. [3] [4] [5]
Hyperpigmented skin lesions with characteristic features, including jagged "coast of Maine" borders and tendency occur along the midline of the body. These lesions are historically termed café au lait macules, however the term "cafe-au-lait" only describes their appearance on lighter-skinned individuals. [5]
Conditions associated with the development of café au lait macules Condition Ataxia–telangiectasia: Bloom syndrome: Fanconi anaemia: Gaucher's disease: Legius syndrome: Marfan syndrome: McCune–Albright syndrome: Multiple endocrine neoplasia type 1: Neurofibromatosis type 1: Neurofibromatosis type 1-like syndrome: Noonan syndrome: Peutz ...
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. [3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. [5] [6] It is also known as neurofibromatosis type 1-like syndrome. [1]
CALM: café au lait macules: CAM: cell adhesion molecule complementary and alternative medicine: CAMP: cyclic adenosine monophosphate: CAP: community-acquired pneumonia: CAPD: continuous ambulatory peritoneal dialysis: CAO: conscious, alert, and oriented (no altered level of consciousness) CaOx: calcium oxalate: Caps: capsule: CAs: congenital ...
It’s illegal to sell or buy, but casu marzu, a maggot-infested sheep milk cheese is a revered delicacy on the Italian island of Sardinia. Locals hope their unusual dairy product can shed its ...
Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...