Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study.
The skin of 20 patients with variegate porphyria (VP) was studied using light, fluorescent, and electron microscopy. Twelve patients had skin symptoms and markedly increased fecal protoporphyrin excretion. Their sun-exposed skin was characterized by homogeneous PAS-positive thickening and IgG deposition in the vessel walls. The basic ultrastructural change was thickening of the vascular walls caused by reduplication of the basal lamina and perivascular deposition of amorphous material. Qualitatively similar but less prominent histopathological changes occurred in sun-protected skin in some of the patients. Six patients had no skin symptoms but an increased porphyrin excretion. The light microscopical changes were comparable to those in the patients with skin symptoms, but the ultrastructural changes were less severe. No abnormal histopathological changes occurred in two symptomless patients who had low lymphocyte protoporphyrinogen oxidase activity but normal fecal porphyrin excretion. These results show that the primary site of skin damage in VP is the vessel wall, and that histopathological changes of the skin also occur in porphyric patients who have never had skin symptoms. Factors determining the occurrence of skin symptoms in VP are discussed.
Timonen
K
K
Department of Dermatology, University Central Hospital, University of Helsinki, Finland.
Niemi
K M
KM
Mustajoki
P
P
Tenhunen
R
R
D000328:Adult; D000368:Aged; D001706:Biopsy; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D005420:Flavoproteins; D006801:Humans; D007070:Immunoglobulin A / Q000378:metabolism; D007074:Immunoglobulin G / Q000378:metabolism; D007075:Immunoglobulin M / Q000378:metabolism; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011164:Porphyrias / Q000473:pathology*; D011166:Porphyrins / Q000378:metabolism; D050768:Protoporphyrinogen Oxidase; D012867:Skin / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure
D005420:Flavoproteins; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D024101:Mitochondrial Proteins; D011166:Porphyrins; D005340:Fibrinogen; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase