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89 Possible Causes for Axillary Freckling, Cafe-Au-Lait Spots, Pallor

  • Pheochromocytoma-Islet Cell Tumor Syndrome

    3 congestive heart failure 32 HP:0001635 4 pheochromocytoma 32 HP:0002666 5 hypercalcemia 32 HP:0003072 6 cerebral hemorrhage 32 HP:0001342 7 tachycardia 32 HP:0001649 8 cafe-au-lait[malacards.org] Pheochromocytoma frequently induces paroxysmal hypertension with headaches, dizziness, nausea and vomiting, sweating, pallor, tachycardia, and palpitations, and these are[symptoma.com] Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Axillary freckling 0000997 Cafe-au-lait[rarediseases.info.nih.gov]

  • 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] Physical findings include visual loss, loss of color vision, an afferent pupillary defect, and optic nerve pallor or atrophy.[emedicine.com] Axillary freckling Axillary freckling (as well as freckling on the perineum), known as the Crowe sign, is a helpful diagnostic feature in neurofibromatosis (see the image[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] Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation.[checkorphan.org]

  • Jaffe-Campanacci Syndrome

    Synopsis multiple cafe-au-lait spots multiple non-ossifying fibromata of the bones[humpath.com] Persistent hyaloid vessels, lens dislocation, iris dysplasia, aniridia, coloboma, microphthalmia, ocular calcifications, and optic disc pallor have also been reported.[e-sciencecentral.org] Figure 1 Typical “coast-of-California” café-au-lait spots (a) and axillary freckles (b).[bmcmusculoskeletdisord.biomedcentral.com]

  • Tuberous Sclerosis

    Additional skin lesions may also develop, including cafe-au-lait spots; fibromas (benign, fibrous nodules) arising around or beneath the nails; or shagreen patches (rough,[flybase.org] Differentials to exclude: Neurofibromatosis type 1: Cafe au lait spots, neurofibromas, axillary freckling, lisch nodules.[ptpaces.wordpress.com] These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas.[urmc.rochester.edu]

  • 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] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info] Axillary freckling Axillary freckling (as well as freckling on the perineum), known as the Crowe sign, is a helpful diagnostic feature in neurofibromatosis (see the image[emedicine.com]

  • 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] It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty.[patient.info] On physical examination, there were multiple café-au-lait spots larger than 15 mm in diameter scattered over the patient's entire body and axillary freckling, but no cutaneous[ncbi.nlm.nih.gov]

  • Familial Pheochromocytoma

    Physical examination found more than six cafe-au-lait spots and BP values of 154–83 mmHg.[elsevier.es] […] of PGL/PCC result from either Mass effect or Catecholamine hypersecretion: Sustained/paroxysmal elevations in blood pressure, headache, episodic sweating, palpitations, pallor[basicmedicalkey.com] Hypersecretion manifests as sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety.[orpha.net]

  • Phlegmasia Alba Dolens

    3 congestive heart failure 32 HP:0001635 4 pheochromocytoma 32 HP:0002666 5 hypercalcemia 32 HP:0003072 6 cerebral hemorrhage 32 HP:0001342 7 tachycardia 32 HP:0001649 8 cafe-au-lait[malacards.org] Home North American English phlegmasia alba dolens phlegmasia alba dolens noun Medicine Pain, swelling, and pallor of a limb caused by acute deep venous thrombosis; especially[en.oxforddictionaries.com] […] noun Medicine Pain, swelling, and pallor of a limb caused by acute deep venous thrombosis; especially that of a leg, most commonly seen in women after childbirth (also called[en.oxforddictionaries.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] Axillary or inguinal freckles are rarely present at birth, but appear during childhood through adolescence.[deepdyve.com]

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