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553 Possible Causes for Erythropoietic Porphyria, Hirsutism

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] Most of the time the facial hairs are fine, so the hirsutism is barely noticeable.[web.archive.org] What is congenital erythropoietic porphyria?[britishskinfoundation.org.uk]

  • Acute Hepatic Porphyria

    porphyria E80.1 Porphyria cutanea tarda E80.2 Other and unspecified porphyria E80.20 Unspecified porphyria E80.21 Acute intermittent (hepatic) porphyria E80.3 Defects of[icd10data.com] […] photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis[medical-dictionary.thefreedictionary.com] Cutaneous manifestations Increased fragility of sun-exposed skin blistering and impaired healing ( blistering photosensitivity ) Healing results in scarring and milia formation Hypertrichosis[amboss.com]

  • Erythropoietic Porphyria

    (disorder) Gunther disease Erythropoietic porphyria Congenital erythropoietic porphyria Uroporphyrinogen 3 Synthase Deficiency GC Günther disease PORPHYRIA, CONGENITAL ERYTHROPOIETIC[wikidata.org] They had recurrent skin bullae, scarring on the face and hands, hirsutism, discoloured fluorescent teeth, red urine, increased haemolysis and grossly increased excretion of[ncbi.nlm.nih.gov] The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth.[ncbi.nlm.nih.gov]

  • Variegate Porphyria

    Called also intermittent acute porphyria. congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating[medical-dictionary.thefreedictionary.com] The typical cutaneous signs of VP, including fragility, bullae, scarring, hypertrichosis, and photosensitivity, are indistinguishable from those of porphyria cutanea tarda[ncbi.nlm.nih.gov] Skin fragility, milia and hypertrichosis may also occur. synonyms Variegate Porphyria, Porphyria Variegata, Hereditary Protocoproporphyria, Mixed Hepatic Porphyria UMLS Dean-Barnes[dermis.net]

  • Porphyria Cutanea Tarda

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[icdlist.com] […] scarring 0000987 Cerebral palsy 0100021 Cirrhosis Scar tissue replaces healthy tissue in the liver 0001394 Edema Fluid retention Water retention [ more ] 0000969 Generalized hirsutism[rarediseases.info.nih.gov] ; hypertrichosis (or abnormal hair growth) The skin signs and symptoms may be non-specific and can be associated with many other skin disorders.[dovemed.com]

  • Acute Intermittent Porphyria

    There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria[ncbi.nlm.nih.gov] Most of the time the facial hairs are fine, so the hirsutism is barely noticeable.[scientificamerican.com] […] photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis[medical-dictionary.thefreedictionary.com]

  • Hepatoerythropoietic Porphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] Accurate research of the drawings by the 16th century physician together with the study of our case's family history have supplied information on the young woman affected by hirsutism[ncbi.nlm.nih.gov] ; hypertrichosis (or abnormal hair growth) on the affected sun exposed skin areas The skin signs and symptoms may be non-specific and can be associated with many other skin[dovemed.com]

  • Photosensitivity Disorder

    Urticarial responses are typical for solar urticaria; but urticarial lesions can also occur in erythropoietic porphyria.[accessemergencymedicine.mhmedical.com] Other symptoms include pruritus, increased skin fragility, hypertrichosis and sclerodermoid changes. 19 The mechanism of PCT in HIV is thought to be HIV-induced changes in[sajhivmed.org.za] (ADP) Porphyria Cutanea Tarda (PCT) Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) Congenital Erythropoietic Porphyria (CEP) Hepatoerythropoietic Porphyria[porphyriafoundation.com]

  • Hypertrichosis

    Hypertrichosis is also a feature of congenital erythropoietic porphyria Idiopathic hirsutism Idiopathic hirsutism describes the presence in girls of excessive body hair in[en.tzermias.gr] Excessive hair may present as hirsutism or hypertrichosis.[termedia.pl] - Congenital erythropoietic porphyria manifests by extreme photosensitivity, causing vesiculobullous lesions on sun exposed areas, followed by hyperpigmentation, scarring[e-ijd.org]

  • Erythropoietic Coproporphyria

    Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum. Genet. 53 (1980) 217–221 Google Scholar Doss, M.[link.springer.com] Hypertrichosis of the face, especially over the cheeks and temples is seen.[stmina-monastery.org] Molecular genetics of congenital erythropoietic porphyria.[ncbi.nlm.nih.gov]

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