Ocular features areorbital involvement may cause proptosis, sinus mucoceles, and compressive optic neuropathy. Systemic featuresare polyostotic fibrous dysplasia (of bone), endocrine abnormalities (including precocious puberty), and cafe-au-lait spots. Allgrove Syndrome Ocular featuresare distichiasis, co...
Cafe au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune ...
This is the more common type of neurofibromatosis. It's also called Von Recklinghausen's disease. The classic symptom of NF1 is light brown patches of pigment on the skin. These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are...
Hashimoto's thyroiditis, high-arched palate40 – 43 over- growth of prenatal or postnatal onset, macrosomia, hypotonia, joint hyperextensibility, downward slanting palpebral fissures, frontal bossing, hypoglycemia, seizures, and cafe´ au lait spots. These phenotypic features are highly variable, ...
We report a new case of MS in a patient who also had cafe au lait spots and precocious puberty suggestive of McCune-Albright syndrome (MAS). To our knowledge, a case of overlap between MS and MAS presenting with monostotic fibrous dysplasia in which the first symptoms were related to ...
Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol 2008;128:1050–1053. 66. Diwakar G, Zhang D, Jiang S, et al. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci 2008;121: 167–177. 67....
more café-au-lait macules larger than 5 mm in prepubertal children or larger than 15 mm after puberty, skinfold freckling, two or more neurofibromas, or one plexiform neurofibroma, long bone or sphenoid wing dysplasia, optic glioma, Lisch nodules or a first-degree relative with NF1.[8][9...
Cafe-au-Lait spotsNeurofibromaChildNational Institutes of Health (U.S.)Early diagnosisRisk assessmentGenes, tumor suppressorOncogenesTumor predispositionNeurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in theNF1, has poor phenotypic expressivity in the early ...
It presents with polycystic fibrous dysplasia, precocious puberty and cafe au lait spots. Genetic studies of IPMNs have noted that somatic GNAS mutations play an important role in IPMN formation. A total of 54 patients with MAS underwent contrast-enhanced MRI and magnetic resonance cholangio...