Biomedical subjects
Publications and source records attributed to A Bourlond.
The ultrastructural aspects of nucleus and cytoplasm of tumor cells and the interstitial material of dermatofibrosarcoma protuberans are described in detail, especially the very peculiar labyrinthic nucleus. Opinions about its development are reviewed; some, such as melanocytic, neural, histiocytic and smooth muscle proliferation, might be discarded. The myofibroblast appears as the most probable stem cell.
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Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions. Clinical features, quantitative determinations of porphyrins in blood, urine and stools, ferrochelatase activity and cutaneous histopathology helped to confirm the diagnosis of EPP. A familial study was also performed. The clinical, laboratory and genetic characteristics of EPP are reviewed.
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The investigation and follow-up of three cases of EPP led us to reevaluate the signs and symptoms of the disease, the usefulness of early skin biopsies and protoporphyrin and ferrochelatase determinations. A review of the literature brought forth the salient features of this inborn error of porphyrin metabolism and stressed the value of treatment with beta-carotene and canthaxantine but also the risk of the so-called "gold dust" retinopathy.
An ultrastructural investigation of erythropoietic protoporphyria reveals the high complexity of the basal complex that surrounds the superficial capillaries. There is a tremendous replication of the usual basement membrane, but in chips, with the constitution of an uneven network within an amorphous substance. Few collagen fibrils and microfibrils are present. Furthermore the architectural upheaval is characterized by the penetration of endothelial cell pseudopoda and of slender processes of perithelial cells. The basal complex is clearly encompassed by a layer of epithelial cells. The overall thickness reaches 5 micra.
Six patients of the same family present with micronodular and generalized familial angiomatosis. Four of them have been investigated. Their problem is purely esthetic; however an asymptomatic form of von Willebrand disease has been found in a female and one of her daughters. The light microscope reveals a network of dilated capillaries in the superficial dermis. Electron microscope investigation of the endothelium demonstrates on abundance of Weibel-Palade bodies, the presence of osmiophilic inclusions within clear vacuoles, the occurrence of long spacing collagen fibrils in the vicinity of endothelial and perithelial cells; furthermore, cytoplasmic projections within the lumen constitute the most dramatic and constant feature: there are many villosities, loops, coils, tufts and entanglements in all four cases.
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