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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
Nevus depigmentosus is a loss of pigment in the skin which can be easily differentiated from vitiligo.Although age factor has not much involvement in the nevus depigmentosus but in about 19% of the cases these are noted at birth.
Pigmented birthmarks caused by excess skin pigment cells include: moles, café au lait spots, and Mongolian spots. Vascular birthmarks, also called red birthmarks, are caused by increased blood vessels and include macular stains (salmon patches), hemangiomas, and port-wine stains. A little over 1 in 10 babies have a vascular birthmark present ...
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 ...
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] Hyperfunctioning endocrine disease
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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]