[Cutaneous manifestations of chronic familial granulomatosis. Apropos of a case].
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Biomedical subjects
Publications and source records attributed to A Bourlond.
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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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A case of Merkel cell tumor is reported. Generally localized in the dermis of the cervicofacial region, this case of a tumor involving the labial mucosa is unique. Clinical and histologic characteristics of this rare clinicopathologic entity are summarized.
While treated with isoxicam, a middle-aged lady developed first diffuse maculopapules and afterwards a syndrome of Lyell; similar observations of bimodal toxicodermatitis have been reported in the literature.
Atypical measles with high fever, pneumonitis, erythematous papular and pustular rash occurred in a 16-year-old girl who had been vaccinated with the inactivated (killed) virus 15 years ago.
A Stewart-Treves angiosarcoma (Stewart-Treves syndrome) developed 14 years after mastectomy (Halsted) and radiotherapy for breast cancer in a woman now 56 years old. Limited excision, graft and complementary radiotherapy have controlled the disease for 20 months. The microscopical and ultrastructural features of this angiosarcoma are presented and the last advances in immunopathology briefly commented.
Dermal alternariasis represents one of the new infectious diseases related to immunodepression, especially in kidney recipients. Periodic acid-Schiff and Grocott stains of paraffin sections and mycological cultures must be resorted to in order to establish the diagnosis. Ketoconazole should be the best treatment.
The Pityrosporum ovale (PO) is demonstrated in various percentages of the keratotic lesions of the seborrheic areas depending upon the techniques. The accumulation of horny material most probably enhances the multiplication of the yeast and makes its demonstration easier. The PAS technique prevails upon the mycological ones (77 p. 100 versus 50-65 p. 100). PO proliferates only in the keratin layer; there are isolated spores, small clusters or even large stratified colonies. On the other side the prevalence of PO does not differ significantly whatever the ultimate diagnosis of seborrheic keratosis, actinic keratosis, naevocellular nevus or vial wart. Its multiplication within the keratin layer of the lesions does not make any difference as far as the lymphocytic infiltration of the dermis is concerned.