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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
The Mongolian spot is a congenital developmental condition exclusively involving the skin. The blue colour is caused by melanocytes , melanin -containing cells, that are deep under the skin. [ 6 ] Usually, as multiple spots or one large patch, it covers one or more of the lumbosacral area (lower back ), the buttocks , sides, and shoulders . [ 6 ]
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]
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 ...
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It was first discovered when Riccardi et al. described multiple families with cafe-au-lait spots and no association for neurofibromatosis in 1980. [5]In 1993, Charrow et al. described five members from a four-generation family who had the characteristic tell-tale sign of neurofibromatosis, multiple cafe au lait spots; however, testing of the gene usually involved in neurofibromatosis revealed ...
This is a list of mnemonics used in medicine and medical science, categorized and alphabetized. A mnemonic is any technique that assists the human memory with information retention or retrieval by making abstract or impersonal information more accessible and meaningful, and therefore easier to remember; many of them are acronyms or initialisms which reduce a lengthy set of terms to a single ...
Infant formula may be used instead of or in addition to breast milk due to lifestyle choices, low milk supply, or other issues that prevent breastfeeding. If a child has lactose intolerance , the parents could turn to soy-based or lactose-free formulas.