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368 Possible Causes for Cutaneous Manifestation, Erythropoietic Porphyria

  • 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] Management includes the prevention of attacks (by avoiding causal factors) and the protection of skin from the light in cases of cutaneous manifestations.[orpha.net] 2015/16 ICD-10-CM E80.29 Other porphyria Approximate Synonyms Acute intermittent porphyria Disorder of porphyrin metabolism Erythropoietic protoporphyria Porphyria Porphyria[icd9data.com]

  • Erythropoietic Protoporphyria

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] EPP is characterised by cutaneous manifestations of acute painful photosensitivity with erythema and oedema, sometimes with petechiae, together with stinging and burning sensations[ncbi.nlm.nih.gov] Cutaneous manifestations of photosensitivity usually appear in early infancy upon the first sun exposures.[ncbi.nlm.nih.gov]

  • Erythropoietic Porphyria

    (disorder) Gunther disease Erythropoietic porphyria Congenital erythropoietic porphyria Uroporphyrinogen 3 Synthase Deficiency GC Günther disease PORPHYRIA, CONGENITAL ERYTHROPOIETIC[wikidata.org] Biochemical and molecular studies were undertaken to investigate the nature of the unusually mild phenotype in a 15-year-old boy with only cutaneous manifestations.[ncbi.nlm.nih.gov] Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations.[ncbi.nlm.nih.gov]

  • Variegate Porphyria

    Our patient, a 36-year-old woman, has severe cutaneous manifestations.[ncbi.nlm.nih.gov] Called also intermittent acute porphyria. congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating[medical-dictionary.thefreedictionary.com] There was no relation between genotype assessed by functional analysis and the presence or severity of non-cutaneous manifestations.[ncbi.nlm.nih.gov]

  • Porphyria Cutanea Tarda

    Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[icdlist.com] Although apparently rare, PCT has been described as possible cutaneous manifestation both of hepatic tumors and interferon treatment.[ncbi.nlm.nih.gov] We report a unique cutaneous manifestation of PCT that is not well documented: unusually large, nonhealing ulcers in the setting of sclerodermatous skin changes and scarring[ncbi.nlm.nih.gov]

  • Porphyria

    Desnick, Congenital erythropoietic porphyria: Recent advances, Molecular Genetics and Metabolism, 10.1016/j.ymgme.2018.12.008, (2018).[doi.org] The treatment of cutaneous manifestations is mainly by phlebotomy and/or small doses of chloroquine. Prognosis Prognosis depends on the type of porphyria.[orpha.net] What is congenital erythropoietic porphyria?[britishskinfoundation.org.uk]

  • Hepatoerythropoietic Porphyria

    A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis.[ncbi.nlm.nih.gov] Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.[ghr.nlm.nih.gov] The chapter on cutaneous manifestations of systemic diseases will help the general practitioner to correlate the cutaneous signs of the common medical problems seen by them[books.google.es]

  • 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] Clinically, all these porphyrias show cutaneous manifestations. Every case usually shows typical pictures that an expert can immediately diagnose.[link.springer.com] Sunscreens and appropriate clothing is the management of the cutaneous manifestations of VP and HCP.[myvmc.com]

  • Acute Intermittent Porphyria

    manifestations and hereditary coproporphyria and variegate porphyria are classified as mixed as they both have neuropsychiatric and cutaneous features.[ncbi.nlm.nih.gov] Manifestations of porphyria include gastrointestinal, neurologic, and psychologic symptoms, cutaneous photosensitivity, pigmentation of the face (and later of the bones),[medical-dictionary.thefreedictionary.com] Neuro-visceral attacks without cutaneous manifestations are characteristic of AIP. Of the acute hepatic porphyrias, AIP is the most common and most severe.[symptoma.com]

  • Hereditary Coproporphyria

    From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease).[ncbi.nlm.nih.gov] HCP and VP are also associated with cutaneous manifestations, including edema, sun-induced erythema, acute painful photodermatitis, and urticaria.[mayomedicallaboratories.com] Management of the disorder includes avoiding causal factors to prevent attacks and protect the skin from the light in cases of cutaneous manifestations.[raredr.com]

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