Congenital erythropoietic porphyria (Gunther disease) – long-term follow up of a case and review - مرکز و کتابخانه مطالعات اسلامی به زبان های اروپایی

مرکز و کتابخانه مطالعات اسلامی به زبان های اروپایی

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" Congenital erythropoietic porphyria (Gunther disease) – long-term follow up of a case and review "
Howard, Matthew; Hall, Anthony; Ramsay, Donald

Document Type	:	AL
Record Number	:	924168
Doc. No	:	LA10n7k90g
Language of Document	:	English
Main Entry	:	Howard, Matthew; Hall, Anthony; Ramsay, Donald
Title & Author	:	Congenital erythropoietic porphyria (Gunther disease) – long-term follow up of a case and review [Article]\ Howard, Matthew; Hall, Anthony; Ramsay, Donald
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	23/2
Date	:	2017
Abstract	:	Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Multiplepatient interviews and collection of biochemistry datawere conducted for the case discussion. All Australianpathology laboratories in each state performingporphyria testing were surveyed in mid 2015 to verifyexistence of other cases of CEP in Australia with onlyone case of true congenital porphyria identifiedand one adult onset case. Congenital erythropoieticporphyria is a rare condition with no cure currentlyavailable. It is important to diagnose patients earlyto prevent and minimize complications such asscarring and secondary infection, provide longterm skin checks, and advise patients about lifestylemodification.