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63 Possible Causes for Cafe-Au-Lait Spots, Dark Skin Pigmentation, Pallor

  • 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[medical-dictionary.thefreedictionary.com] Photographs of dermal neurofibromas (tumors of the skin), cafe-au-lait spots (dark or pigmented areas on the skin that are often the first signs of NF1) and other skin problems[clinicaltrials.gov] Physical findings include visual loss, loss of color vision, an afferent pupillary defect, and optic nerve pallor or atrophy.[emedicine.com]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[wikidata.org] […] stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor[eyewiki.aao.org] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[moldiag.com]

  • Neurofibromatosis Type 6

    MalaCards based summary : Autosomal Dominant Café Au Lait Spots, also known as neurofibromatosis type 6, is related to cafe-au-lait spots, multiple and pulmonary valve disease[malacards.org] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info] Cafe-au-lait spots are flat brown skin spots. They are called “cafe-au-lait” from the French term for “coffee with milk”, because of their color.[nothing-is-forever.de]

  • Incontinentia Pigmenti Achromians

    Hypomelanosis of Ito associated with cafe-au-lait spot and angiomatous nevi.[ijpd.in] pigmentation (hyperpigmentation).[stlukes-stl.com] Stage 1 is characterized by erythema, vesicles, and pustules; stage 2 by papules, verrucous lesions, and hyperkeratosis; stage 3 by hyperpigmentation; and stage 4 by pallor[angle.org]

  • Multiple Hamartoma Syndrome

    […] report, have most of the previously reported findings associated with this syndrome and several important unreported findings that include multiple cutaneous trichilemmomas, cafe-au-lait[ncbi.nlm.nih.gov] Clinical examination revealed multiple tiny (1-2 mm) nodules on forehead, nose, and maxillary region with pallor (anemia).[ncbi.nlm.nih.gov] […] macules; Pediatr Clin North Am. 2010 Oct;57(5):1131-53. doi: 10.1016/j.pcl.2010.07.002, Retrieve from: William D James, (2016); Cafe Au Lait Spots; Retrieve from: Marcia[syndromespedia.com]

  • Systemic Scleroderma

    The skin can lose or gain pigment; making areas of light or dark skin. Some people lose hair on the limbs, sweat less, and develop dry skin because of skin damage.[hopkinsscleroderma.org] Even among patients who do not experience all of the skin changes associated with Raynaud’s phenomenon, most report digital pallor 11 (see Figure 3).[mdedge.com] ] Nail-fold capillary dilatation and capillary destruction (see image below) Raynaud phenomenon of the hands: Symmetrical acral vasospasm is present, with characteristic pallor[emedicine.medscape.com]

  • Addison's Disease

    Even people with dark skin can develop excessive pigmentation, although the change may be harder to recognize.[merckmanuals.com] ) skin, and dark freckling.[encyclopedia.com] Corticotropin also stimulates melanin production, so the skin and the lining of the mouth often develop a dark pigmentation.[merckmanuals.com]

  • Fanconi Anemia

    Other abnormalities seen are skin pigmentation (Cafe au lait spot), small head (microcephaly), small eyes (microphthalmia), learning disabilities, failure to gain weight,[pediatriconcall.com] Low platelet count (thrombocytopenia) Areas of abnormal skin pigmentation Frequent or unexpected nosebleeds Thumb abnormalities (see photos) Increased deep tendon reflexes[forgottendiseases.org] Examination revealed pallor, short stature and thumb polydactyly. There was no visceromegaly or lymphadenopathy.[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 2

    Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots[ncbi.nlm.nih.gov] ), dark, rough areas of hairy skin.[web.archive.org] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info]

  • Plexiform Neurofibroma

    Neurofibromatosis (NF) is a genetically inherited, autosomal dominant disease, characterized by multiple cafe au lait spots, cutaneous neurofibromas and "Lisch nodules."[ncbi.nlm.nih.gov] (pigmented neurofibroma) has led to considerable confusion in the literature.[ncbi.nlm.nih.gov] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info]

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