Disease relevance of Cafe-au-Lait Spots

• Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours [1].
• Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized predominantly by neurofibromas, café-au-lait spots, and Lisch nodules [2].
• In addition to the observed high superoxide concentration in Fanconi anemia (FA) patients, a low thioredoxin level might be responsible for the hyperpigmentation (café-au-lait spots) in this disease [3].
• Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister [4].
• We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple café-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1) [5].

Psychiatry related information on Cafe-au-Lait Spots

• A 10-year-old boy with microcephaly, stunted growth, mental retardation, café-au-lait spots and immunodeficiency is described [6].

High impact information on Cafe-au-Lait Spots

• NF1 is characterized by café-au-lait spots (CLS), axillary freckles and Lisch nodules of the iris [7].
• Here, in an individual, we demonstrate that a homozygous novel mutation in the MMR gene MSH2 is associated with leukemia and multiple café-au-lait spots, a feature of neurofibromatosis type 1 [8].
• Furthermore, depression of tyrosine hydroxylase, the key enzyme of melanine synthesis, could be the basis for the pathognomotic 'café au lait' spots of FA [9].
• We illustrate "café-au-lait spots" acquired during middle age in a patient with MAS that are an illusion caused by vitiligo [10].
• The 18-month-old boy had metal retardation, microcephaly, a distinctive face, bilateral coloboma, café-au-lait spot on the abdomen, and sacral agenesis [11].

Chemical compound and disease context of Cafe-au-Lait Spots

• Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia [12].
• Vitamin D3 analogues also decreased melanin pigment in café au lait spots after 4 weeks of treatment [13].
• We treated a patient with MAS (café-au-lait spots; thelarche at age 2- 6/12 yr; menarche at 5- 5/12 yr; accelerated bone age [BA 10 yr]) with the highly selective aromatase inhibitor anastrozole (1 mg once per day) [14].

Biological context of Cafe-au-Lait Spots

• Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome [15].

Anatomical context of Cafe-au-Lait Spots

• To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed clinically and one patient with only café-au-lait spots and no other diagnostic criteria [16].
• BACKGROUND: Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest tumors [17].

Gene context of Cafe-au-Lait Spots

• Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome [18]?
• Ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a café-au-lait spot, and a "birthmark" were found in 1 child each [19].
• One patient also had granulomatous lesions of the eye, 8 had café-au-lait spots and 3 epilepsy [20].
• Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient [21].

Analytical, diagnostic and therapeutic context of Cafe-au-Lait Spots

• One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI [22].

References