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680 Possible Causes for Cafe-Au-Lait Spots

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  • Legius Syndrome

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[] Mother's sister and grandfather have some cafe-au-lait spots.[] On assessment he was noted to have multiple cafe-au-lait spots 5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother.[]

  • Neurofibroma

    Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots), freckling in atypical locations such as under the arms ([] Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[] Six or more light brown-colored birthmarks (cafe-au-lait spots) may be located anywhere on the body. The spots usually appear before about 9 years of age.[]

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[] Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.[] Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin.[]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[] spots.[]

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[] 29% of people have these symptoms Abnormal vagina morphology 0000142 Abnormality of the cardiovascular system Cardiovascular abnormality 0001626 Autistic behavior 0000729 Cafe-au-lait[] Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia.[]

  • Pheochromocytoma

    The subject should be examined for cafe au lait spots if neurofibromatosis is suspected.[] Neurofibromatosis type 1 involves neurofibromas and cafe-au-lait spots. The genetic mutation is found on chromosome 17q11.2.[]

  • McCune-Albright Syndrome

    People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters.[] McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[]

  • Polyostotic Fibrous Dysplasia

    When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2[] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[] Other symptoms include: Bone fractures Deformities of the bones in the face Gigantism Irregular, large patchy cafe-au-lait spots There is no specific treatment for McCune-Albright[]

  • Pheochromocytoma-Islet Cell Tumor Syndrome

    One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling.[] One of the patients described by Carney and colleagues presented cafe-au-lait spots and axillary freckling characteristic of NF1.[]

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[]

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