Search results
Results from the WOW.Com Content Network
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]
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
Although symptoms are often mild, each condition presents differently. 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]
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 [citation needed] Patients may have one or many of these features, which may occur in any combination.
Symptoms include “sensitivity to light, dizziness, pain behind the eyes, nausea, vomiting, and rash,” the CDC says, while more serious disease includes meningitis, encephalitis, and bleeding.
Symptoms include blurred vision in both eyes, but the onset may occur at a different time in each eye. There are yellow-white placoid lesions in the posterior pole at the level of the retinal pigment epithelium. Some suggest a genetic predisposition to the disease, while others postulate an abnormal immune response to a virus. [2]
TED causes inflammation and damage to the tissues around the eye and usually occurs in people with Graves' disease, an immune system disorder that results in overproduction of thyroid hormones.