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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]
Café au lait spots are usually present at birth, permanent, and may grow in size or increase in number over time. [3] Café au lait spots are themselves benign and do not cause any illness or problems. However, they may be associated with syndromes such as neurofibromatosis type 1 and McCune–Albright syndrome. [3]
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 1 in early life may cause learning and behavior problems – about 60% of children who have NF1 have mild difficulty in school. [7] Signs the individual might have are as follows: [8] [9] Six or more light brown dermatological spots ("café au lait spots") At least two neurofibromas; At least two growths on the eye's iris
Treatment typically focuses on addressing the underlying causes, such as reducing stress or doing physical therapy, but prescription medications may be used if the headaches are frequent, Cohen noted.
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 ...
Try an in-office treatment. Laser facials and chemical peels containing alpha hydroxy acids are the two main options for in-office treatments. "Nd:YAG lasers and Pico lasers have demonstrated ...
Eye involvement typically occurs early in the course of reactive arthritis, and symptoms may come and go. Dactylitis , or "sausage digit", a diffuse swelling of a solitary finger or toe, is a distinctive feature of reactive arthritis and other peripheral spondylarthritides but can also be seen in polyarticular gout and sarcoidosis .
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related to: cafe lait spots vs mongolian eyes symptoms causes and relief arthritis- 1717 Olentangy River Rd, Columbus, OH · Directions · (614) 298-1070
