Biomedical subjects
Publications and source records attributed to J Bazex.
We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.
We report a clinical case of a 15-year-old boy who presented a photodistributed eruption after having used a sunscreen cream for 8 days. Photobiological testing showed a contact allergy to 3-(4' methylbenzylidene) camphor (Eusolex 6300) included in his sunscreen cream associated with a contact and photocontact allergy to 4-isopropyl-dibenzoylmethane (Eusolex 8020) not included.
BACKGROUND: Brooke-Spiegler syndrome is an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal tumors. CASE REPORT: A 44-year-old woman with trichoepitheliomas involving the naso-genal and mental areas associated with cylindromas and spiradenomas on the forehead and pretragal regions creating a turban effect. Other complete or diassociated syndromes were found in family members. No neoplastic tumor was identified. DISCUSSION: Brooke-Spiegler syndrome is an hereditary disease with autosomal dominant transmission. Both benign and malignant neoplasias can be associated. The concomitant existence of different tumors could be helpful in understanding the pathophysiology. There is some debate about the exact origin of the trichoepitheliomas, cylindromas and spiradenomas. Several single-cause theories have been put forward but remain to be confirmed as the genetic anomalies identified for trichoepitheliomas and cylindromas map to different sites. Patients with Brooke-Spiegler syndrome should be explored for malignant neoplasia. A family study is indicated.
A 16-year-old girl presented painful, red, nodular lesions on the abdomen. A cutaneous biopsy showed inflammatory cell infiltrate and fibrosis in the dermis and in the septa with isolated adipocyte lobules. alpha1-antitrypsin level was found to be normal but M1S phenotype of alpha1-antitrypsin was determined by isoelectric focusing in polyacrylamide gel. alpha1-antitrypsin level was normal for her family but M2S phenotype was found in her father. Alpha 1-antitrypsin (alpha1 AT) deficiency is a common hereditary disorder of Caucasians. The locus is pleiomorphic and 75 alleles have been identified. Numerous pathological mutations can be classified by the mechanisms which cause the deficiency. The major clinical importance of this deficiency is emphysema and liver disease. Panniculitis is rarely reported and seems to occur principally for the ZZ or MZ phenotype and for low levels of alpha1 AT. MS phenotype has been more rarely reported and triggering agents such as trauma and infections must be present. However, normal levels of alpha1 AT in the serum have previously been reported as in our case, and we suggest the study of alpha1 AT phenotype even if the plasma level is normal.
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BACKGROUND: Paraneoplastic pemphigus is an autoimmune mucocutaneous disease usually associated with neoplasia as lymphoid proliferations. We report the original case of a patient who had developed a mycosis fongoide preceded by a paraneoplastic pemphigus. To our knowledge, this association has never been reported before. Cutaneous manifestations of mycosis fongoide as pigmentary change are known. This mycosis fongoide was particular in its progressive cutaneous hyperpigmentation. CASE REPORT: A 70-year-old male patient developed a mycosis fongoide with CD30 positive cells in the dermis several months after the diagnosis of a paraneoplastic pemphigus. Simultaneously, a cutaneous hyperpigmentation was predominantly noticed on photo-exposed areas, which improved after chemotherapy. DISCUSSION: Paraneoplastic pemphigus may precede the cancer, as is shown by our present case. This paraneoplastic pemphigus is singular because of the lack of oral erosions, patient's prolonged survival and its association with a mycosis fongoide. The diagnosis of mycosis fongoide with CD30 + cells was finally established together with its relationship to the cutaneous hyperpigmentation. Indeed, a few cases of pigmentary changes in mycosis fongoide have already been reported. The pathogenesis is still unknown, but the role of mast cell and stem cell factor in hyperpigmented mycosis fongoide has been proposed.
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In this paper the authors try to specify the leg ulcers physiopathology. They have first studied the vascular deficits, and they are able to conclude that this deficit is not the only factor responsible for the thrombosis. They try to rediscover the factors which could lead to the thrombosis, on the created local conditions (circulatory slackening, cooling, ischemia), by using clinical and biological "check-ups" as well as an exploration of the clotting. In many patients we find an anomaly such as: clotting "check-ups" disturbance, thrombocyte hyperaggregability, fibrinolysis deficit, antithrombin III deficit, cryoprecipitate, circulating immune complexes, hepatic "check-up" alteration. It is difficult to establish an accurate relation between these anomalies and a thrombosis but the frequent existence of such anomalies makes us think that they play a part in the ulcerations coming-up.
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We report a case of pseudoxanthoma elasticum associated with an acneiform eruption involving the cervical area. When she was 16 years-old our patient was diagnosed with pseudoxanthoma elasticum, affecting the skin (flexural, cervical and neck areas) and the eyes (bilateral ocular angioid streaks). Ten years later, acneiform lesions (inflammatory and comedones) developed on these lesions: - the inflammatory lesions were characterized by phagocytosis of pathological elastic fibers inducing granuloma - the histological aspects of pseudoxanthoma elasticum were observed around large comedones. This association is rarely reported and we think that atypical, cervical acneiform lesions may be an indication of pseudoxanthoma elasticum. The mechanism for this association is not clearly understood. In our case, Von-Kossa staining was negative for the granulomatous lesions and positive for the comedones: calcification could protect elastopathic fibers from phagocytosis. Treatment is difficult: anti-acneic treatments are not effective except for tetracylines, the anti-inflammatory effects of which can improve granulomatous lesions. As its efficacy has been reported in elastosis perforans serpiginosa, we used liquid nitrogen cryotherapy on the inflammatory lesions with good results (separation of epidermis from dermis perhaps promoting transepithelial elimination of the abnormal dermal elastic tissue).