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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]
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 ...
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
A Mongolian spot, also known as slate grey nevus or congenital dermal melanocytosis, is a benign, flat, congenital birthmark with wavy borders and an irregular shape. In 1883, it was described and named after Mongolians by Erwin Bälz, a German anthropologist based in Japan, who erroneously believed it to be most prevalent among his Mongolian patients.
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 ]
There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
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.
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]