عنوان

Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review

Number

LA10n7k90g

.Language of Text, Soundtrack etc

انگلیسی

Title Proper

Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review

General Material Designation

[Article]

First Statement of Responsibility

Howard, Matthew; Hall, Anthony; Ramsay, Donald

Text of Note

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.

Date of Publication

2017

Title

Dermatology Online Journal

Volume Number

23/2

Entry Element

Howard, Matthew; Hall, Anthony; Ramsay, Donald

Electronic name

[Article]

275578

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