[Early pseudoxanthoma elasticum with severe cardiovascular involvement]. / Pseudoxanthome élastique de survenue précoce avec atteinte cardiovasculaire sévère.

INTRODUCTION: Pseudoxanthoma elasticum is a rare inherited connective disorder, characterized by elastic tIssue degeneration. The onset of the symptoms usually occurs within the second decade of life. CASE REPORT: We describe the case of a 15 year-old boy, born to consanguin parents, who presented characteristic cutaneous signs of pseudoxanthoma elasticum. The patient had also presented with severe cardiovascular involvement of early onset, at the age of 6 months. The latter included episodes of ischemic stroke, arterial hypertension, thrombosis of the left iliac and carotid arteries and cardiomegaly. His sister suffered from isolated cutaneous involvement. Diagnosis of pseudoxanthoma elasticum was confirmed on the histology of the skin and molecular analysis in our patient and in his sister revealed the same homozygote mutation. DISCUSSION: The organs most commonly affected by pseudoxanthoma elasticum are the skin, eyes and vascular system. The cutaneous lesions are characteristic and usually appear around the age of 13. Ophthalmological involvement is frequent. Angioid bands are the most typical lesions; the occur between the ages of 14 and 25. Survival depends on the vascular damage. Conversely to our case report, it usually appears later in life, during the third decade. Arterial hypertension and intestinal bleeding have also been described. The cardiac involvement in our patient is rare. This boy and his sister presented with the same homozygote mutation. Such a major intra-familial clinical variability emphasizes the hypothesis of the absence of any genotype-phenotype relationship in pseudoxanthoma elasticum.

[Brooke-Spiegler syndrome]. / Syndrome de Brooke-Spiegler.

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.

[Erythema multiforme caused by saquinavir]. / Erythème polymorphe au saquinavir.

BACKGROUND: Saquinavir is a protease inhibitor used for the treatment of HIV infection. Adverse skin reactions have been rare. We report here the first case of erythema multiforme in a patient given saquinavir. CASE REPORT: A 32-year-old man was seropositive for HIV and consulted due to the development of round maculo-papular lesions centered on a bulla and two erosive lesions of the palate five days after the introduction of saquinavir. Histology was compatible with erythema multiforme. After withdrawal of saquinavir, the skin and mucosal lesions regressed in 15 days, with no recurrence at 3 months. DISCUSSION: Adverse skin reactions to saquinavir are exceptional (eruptions, pruritus). We describe here the first case of erythema multiforme caused by saquinavir (imputability criteria 12 BO). Due to the structural analogy of saquinavir with other protease inhibitors (indiravir, ritonavir, nelfinavir) it would be difficult to prescribe a compound of the same class.

[Syphilitic labial leucokeratosis]. / Leucokératose labiale syphilitique.

BACKGROUND: Several diagnoses, including syphilis, can be entertained in patients with leukokeratosis of the buccal mucosa. We report a case of labial leucokeratosis which revealed latent syphilis. CASE REPORT: A 36-year-old man with a past history of genital syphilis chancre which have been treated 12 years earlier, developed buccal leucokeratosis with no other clinical manifestation. Histology showed dermal infiltration containing plasma cells, polynuclears and lymphocytes. Blood tests were positive for syphilis. Complementary examinations were unable to detect another localization. Leucokeratosis regressed completely after one injection of Extencilline. There has been no recurrence at one year. DISCUSSION: The clinical and histological presentations of syphilis can mimic different skin diseases. Serodiagnosis alone is significant. Isolated buccal lesions are rarely described in syphilis suggesting serodiagnosis should always be ordered. Whatever the clinical stage of the diseases, serological surveillance after treatment for syphilis is essential.