It's because I have this rare metabolic disease called Erythropoietic ProtoPorphyria (EPP). EPP is one of the family of porphyrias.
PP Plumboporphyria (aka ALA-D) AIP Acute Intermittent Porphyria CEP Congenital Erythropietic Porphyria PCT Porphyria Cutanea Tarda HEP Hepatoerythropoietic Porphyria HCP Hereditary Coproporphyria VP Variegate Porphyria EPP Erythropoietic Protoporphyria |
To put it all even more scientifically:
ANOMALIES IN PIGMENT METABOLISM:
EPP is associated with decreased activity of ferrochelatase and is inherited
in an autosomal dominant fashion. Biochemically, this defect results in
massive accumulations of protoporphyrin in erythrocytes, plasma, and
feces. Clinically, the disease is characterized by the childhood onset of
cutaneous photosensitivity in light-exposed areas, but skin lesions are
milder and less disfiguring than those seen in CEP, PCT, HEP, and VP.
(Taken from the Merck Manual)
XP (Xeroderma Pigmentosum) and CPLD.
EPP info De site van de Nederlandse Patientenvereniging.
Dermatology Online Erlangen University of Erlangen (English/deutsch)
You may also like to sign the guest book.
© André
What's so special about EPP?
Due to shortage of a certain enzym (ferrochelatase), EPP-patients will have too many protoporhyrins in their red blood cells and liver. When these protoporhyrins absorb too much (sun)light, they will cause, amongst other things, swelling and itching of the skin.
As a result we can't stand sunlight very well and must be careful when going outside in the summertime. We just love those cloudy days!
ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
Similar diseases
There are some other diseases that are not porphyria, but they do involve (sun)light sensitivities. They include:Read more about EPP
PorphBook Lots of info by Diana Deats-O'Reilly
EPPREF EPP Research and Education Fund
OMIM page on EPP Extensive descriptions and research findings
PubMed Find more medical articles
Merck Manual on EPP
Another manual
Other porphyrias
PorphBook A book on porphyria by Diana Deats-O'Reilly
Queensland
Shelly's Porphyria University (AIP)
René's VP page
CherylAnn's Page (incl. mail list)
Canadian Porphyria Foundation
American Porphyria Foundation
Pat Frogs Page on HCP
Mary Pretlow's Page
Porphyria clubs
Yahoo Porph Club
MGH Chat Room for VP and other porphyrias
A Forum For All Porphs
Therapy?
There is no cure for EPP yet, but however hope exists. Lately, some patients achieved good results with PUVA-treatment. This therapy involves a sort of stand-up solarium with specific wavelength light, which builds up sunlight resistance in the skin. Nederlands
Suusjes site De site van Suzanne Talens
SPITS! Een artikel uit de SPITS
Deutsch
Die PresseEin Artikel von Viola Gangl
Contact
If you'd like to chat through ICQ, Yahoo or MSN Messenger or if you have any comments on this web page (links not working, a link to your site), feel free to mail me privately. Please use a clever subject header like 'EPP' to avoid instant deletion.
update 20040614