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 ...
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]
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]
The average life span is approximately 27 years. The most common cause of death in Bloom syndrome is from cancer. Other complications of the disorder include chronic obstructive lung disease and type 2 diabetes. [9] There are a variety of excellent sources for more detailed clinical information about Bloom syndrome. [8]
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.
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.