Six Cases of Erythropoietic Protoporphyria

Nonaka, Shigeo; Nishimoto, Katsutaro; Hirowatari, Tokuji; Honda, Takashi; Nogita, Michio

doi:10.1111/j.1346-8138.1975.tb00943.x

Cited by 3 publications

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In EPP, the determination of erythrocyte and fecal protoporphyrin levels has diagnostic importance (19), although fecal porphyrins allegedlyare normal (20,21). In our case, fecal protoporphyrin was within the normal range.…”

Section: Discussionmentioning

confidence: 99%

Decreased Leukocyte Ferrochelatase Activity in Erythropoietic Protoporphyria

Kondo

Ohe

Mizuguchi

1989

The Journal of Dermatology

View full text Add to dashboard Cite

We studied the porphyrin metabolism of a 7-year-old Japanese boy with erythropoietic protoporphyria (EPP) and his family members. Leukocyte ferrochelatase activity was markedly decreased in this patient, being approximately 12% of the mean value of normal controls (4 aged-matched healthy boys). In contrast, leukocyte delta-aminolevulinic acid (ALA) synthase activity was normal. The free protoporphyrin content of erythrocytes was greatly increased (4.3 mg/100 ml RBC), while erythrocyte ALA dehydratase and porphobilinogen (PBG) deaminase activities were 1.7- and 2.2-fold of respective control values. A survey of his family revealed that 12 of 19 members probably had manifest EPP or were EPP carriers. These results suggest that, in EPP, there might be an inherited impairement of ferrochelatase activity which gives rise to an elevation of erythroblast ALA dehydratase and PBG deaminase activities to compensate for a resultant decrease in heme production.

show abstract

Section: Discussionmentioning

confidence: 99%

Decreased Leukocyte Ferrochelatase Activity in Erythropoietic Protoporphyria

Kondo

Ohe

Mizuguchi

1989

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

Electron Microscopic Study of Porphyrias

Nonaka

Nishimoto

Hirowatari

et al. 1975

The Journal of Dermatology

Self Cite

View full text Add to dashboard Cite

Electron microscopic examinations were performed on skin specimens obtained from six patients with erythropoietic protoporphyria and one patient with erythropoietic porphyria (Gunther).The most important histopathological findings in the involved skin of porphyria is an accumulation of PAS positive material surrounding the small vessels in the upper dermis. The electron microscopic features of this material are discussed. It is not clear how this material is produced. MATERIALSSix cases of erythropoietic protoporphyria as reported by us (3) (cases I through 6), and one case of erythropoietic porphyria (Giinther) as reported by Yano et al. (5) (case 7). Each case is summarized as follows:Case 1: A seventeen-year-old girl. Her chief complaint was petechiae on the dorsa of her hands after exposure to sunlight. Histopathological change was an accumulation of PAS positive material surrounding the small vessels in the upper dermis.Case 2: A thirty-two-year-old man. He had many small crater-like scars on his face, and there was lichenification on the dorsa of his hands. Histopathological finding was a marked accumulation of PAS positive material.Case 3: A six-year-old girl, photosensitive since the age of one year, with small flat scars on her face, and slight lichenification and hyperpigmentation on the dorsa of her hands. The accumulation of PAS positive material was seen on biopsy.Case 4: A three-year-old girl, the younger sister of case 3. Her photosensitivity also was noticed at the age of one year, but her signs and symptoms were less marked than those of her elder sister. However, the accumulation of PAS positive material

show abstract

Erythropoietic Protoporphyria with Severe Cholestasis.

et al. 1994

View full text Add to dashboard Cite

A 74-year-old womanwith erythropoietic protoporphyria (EPP) with hepatic dysfunction is reported. She had been photosensitive for two years prior to admission. Physical examination revealed hepatosplenomegaly and erosions on her face. Moderate increases in serum bilirubin and biliary tract enzymes were noted. Histology of the biopsied liver revealed moderate fibrosis and dilatation of bile canaliculi containing orange pigment. Marked increases in protoporphyrin in erythrocytes and feces were noted. The patient died of hepatic failure a year and a half after admission with maximumserum bilirubin of 34 mg/dl. This patient seems to be the oldest among reported EPP cases with liver dysfunction. (Internal Medicine 33: 802-805, 1994)

show abstract

Six Cases of Erythropoietic Protoporphyria

Cited by 3 publications

References 8 publications

Decreased Leukocyte Ferrochelatase Activity in Erythropoietic Protoporphyria

Decreased Leukocyte Ferrochelatase Activity in Erythropoietic Protoporphyria

Electron Microscopic Study of Porphyrias

Erythropoietic Protoporphyria with Severe Cholestasis.

Contact Info

Product

Resources

About