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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 ]
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 ...
Neurofibromatosis type I (NF1) is typically characterized by café au lait spots (light-brown flat patches of skin), neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and headaches. [2]
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]
Moreover, the sun sensitivity can resolve in adulthood. There are other dermatologic changes, including hypo-pigmented and hyper-pigmented areas, cafe-au-lait spots, and telangiectasias, which can appear on the face and on the ocular surface. [citation needed]
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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]