๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Hepatoerythropoietic porphyria
Hepatoerythropoietic porphyria
Clinical features Hepatoerythropoietic porphyria is very rare and, in fact, represents the homozygous form of familial porphyria cutanea tarda.1 Both diseases share
595 Porphyria
mutations.8,9 Extreme immediate photosensitivity occurs in infancy.10โ12 Erythema, edema, and vesicles lead to severe scarring, with hypertrichosis and sclerodermatous changes in exposed areas.13 Ocular features include photophobia, conjunctivitis, and scleromalacia perforans.14 Hepatitis, cirrhosis, and normochromic anemia may also occur.
Fig. 13.104 Porphyria cutanea tarda: there is marked facial scarring with sclerodermiform features. By courtesy of G. Murphy, MD, Beaumont Hospital, Dublin, Eire.
Fig. 13.106 Variegate porphyria: numerous ruptured vesicles are present on the back of the hand and fingers. By courtesy of G. Murphy, MD, Beaumont Hospital, Dublin, Eire.