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

Patients with the rare genodermatosis congenital erythropoietic porphyria (CEP, Gunther disease) develop erosions and scarring on sun-exposed sites caused by phototoxin mediated damage. Compromised skin barrier function places patients at higher risk of infection and long term sequelae include scarring. We report a long term follow up of a 60 year old patient born with CEP and provide an extensive literature review of CEP including recent updates on potential management options. Multiple patient interviews and collection of biochemistry data were conducted for the case discussion. All Australian pathology laboratories in each state performing porphyria testing were surveyed in mid 2015 to verify existence of other cases of CEP in Australia with only one case of true congenital porphyria identified and one adult onset case. Congenital erythropoietic porphyria is a rare condition with no cure currently available. It is important to diagnose patients early to prevent and minimize complications such as scarring and secondary infection, provide long term skin checks, and advise patients about lifestyle modification.