Protoporphyria erythropoetica E80.0

Most common form of porphyria in children ( OMIM 177000) with phototoxic skin reactions due to elevated protoporphyrin in erythrocytes and pathologically elevated plasma protoporphyrin in serum. The clinical symptoms are triggered by short-wave visible and long-wave UVA light (window glass offers no protection).

Panethnic; incidence 1:75,000 to 1-200,000

Autosomal-dominant or autosomal-recessive inherited defects of ferrochelatase (FECH gene; gene locus: 18q21.3), which lead to a reduction of activity to 10-25% of normal value. This disrupts the incorporation of iron into the heme molecule.

Initial diagnosis already in infancy or in childhood before the 10th LJ (around the 2nd LJ). Seasonally frequent, preferably during the sunny season.

Particularly light-exposed skin areas (face, here especially nose, back of the hand) are affected.

• Dermatitis type: Acute after sun exposure burning and itching. Formation of a severe dermatitis solaris with extensive sharply defined erythema and oedema of the skin. Possible formation of blisters and crusts which heal with small, varioliform scars. Perioral pseudorhagades, lichenified skin. Onycholysis of the fingernails (photoonycholysis) possible.
• Pruritus type: Itching and burning shortly after exposure to the sun.
• Urticaria type: Reddened, spotted, itchy or burning erythema and urticaria.
• Quincke's edema type: Pasty subcutaneous swellings.
• Hidroa vacciniformia type: papulonecrotic skin lesions, especially on the bridge of the nose, earlobes and back of the hand, which heal and form varioliform scars. Other symptoms: Temporal and zygomatic hypertrichosis, pseudorhagades of the lips.
• Gallstone formation from protoporphyrin

S.a.u. lipoid proteinosis in photosensitivity.

protoporphyrins are elevated in blood and stool; no excretion in urine, as protoporphyrins are hydrophobic and are excreted via the bile Late stage transaminases increased.

Detection of protoporphyrin crystals in liver tissue.

In 10% of cases cholestatic liver cirrhosis, in 5% of cases fulminant liver failure (see also protoporphyria, X-linked dominant)

• Causal therapies are not known.
• Little success can be achieved with antioxidative therapeutics such as beta-carotene (e.g. carotaben 50-200 mg/day) or ascorbic acid.
• Prophylactic measures are important: consistent textile and chemical/physical light protection (see also light protection agents), covering make-ups with a broad filter effect in the UVA and UVB range (e.g. Anthelios, hydrophobic or hydrophilic tinted covering paste R025 ).
• Light-hardening starting before the sunny period can be tried.
• Good effects could be proven in a larger study (Harms et al.) with EPP patients by the alpha-melanocyte stimulating neuropeptide analogue afamelanotide (see below melanotan) (tolerance of the patients to normal sunlight was significantly increased. Furthermore: significant increase in pain tolerance, increased pigmentation). The application takes place by means of an implant (16mg Afamelanotide s.c. implantation) which is applied 3 times a year.

In about 7% of the patients with the clinical and biochemical suspected diagnosis of EPP, no deficiency of the FECH and no mutation of the FECH gene could be detected (Whately 2008). This defines an X-linked dominant porphyria form (OMIM 300752).

In case of op-indications it must be pointed out that overlong exposures of internal organs can cause severe burns (spectral range 380-520 nm)!

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2. Frank J et al (2011) Hereditary metabolic diseases with cutaneous manifestation. Dermatologist 62: 98-106
3. Harms J et al (2009) An alpha-melanocyte-stimulating hormone analogue in erythropoetic protoporphria. N Engl J Med 360: 306-307
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12. Whatley S et al (2008) C-terminal deletions in the ALAS2-gene leaqd to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. At J Hum Genet 83: 408-414