Histological characterization of Darier's disease in Tunisian families.

BACKGROUND: Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase type 2 isoform (SERCA2). OBJECTIVE: We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. RESULTS: The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient. CONCLUSION: Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation.

Recombinant integrin CD11b A-domain blocks polymorphonuclear cells recruitment and protects against skeletal muscle inflammatory injury in the rat.

The beta2 integrin CD11b/CD18 (CR3) is a major adhesion receptor of neutrophils, normally utilized to fend off infections. This receptor contributes, however, to multiple forms of non-infectious inflammatory injury when dysregulated as shown in gene knock-outs and through the use of blocking monoclonal antibodies. The major ligand recognition site of CR3 has been mapped to the A-domain in the CD11b subunit (CD11bA). The recombinant form of this domain exhibits a ligand binding profile similar to that of the holoreceptor. To assess the potential anti-inflammatory activity of CD11bA as a competitive antagonist of CR3 in vivo, we assessed its effects on a developed animal model of traumatic skeletal muscle injury in the rat. Recombinant soluble rat CD11bA-domain fused to glutathione-S-transferase (GST) was administered intravenously in a single dose at 1 mg/kg to nine groups of Wistar rats, five in each group, 30 min before inducing traumatic skeletal muscle injury. Control animals received either a function-blocking anti-CD11b/CD18 monoclonal antibody (1 mg/kg), non-functional mutant forms of the CD11bA (D140GS/AGA, T209/A, D242/A), recombinant GST or buffer alone. In control animals, the wounded muscle showed oedema, erythrocyte extravasation and myonecrosis both within and outside the immediate wounded area (5-10 mm zone) and influx of neutrophils was detected 30 min post-wound, followed by a second wave 3 hr later. Wild-type CD11bA- or anti-CD11b monoclonal antibody (mAb)-treated rats showed a comparable and significant decrease in the number of infiltrating PMN (78 + 4%, n = 70 and 86 +/- 2%, n = 50, respectively) and preservation of the muscular fibres outside the immediate zone of necrosis (75 + 4%, n = 70, 84 +/- 1%, n = 50, respectively), compared to controls. These data demonstrate that CD11bA can be an effective tissue-preserving agent in acute inflammatory muscular injury.

[Bullous amyloidosis]. / Amylose bulleuse.

INTRODUCTION: The occurrence of skin damage during systemic amyloidosis is common, but the appearance of bullous lesions is rare. Only twenty-seven cases have been reported in the literature. We report our observation of bullous amyloidosis during progression of renal amyloidosis. OBSERVATION: A 61 year-old man, presented with white, soft, palpebral edemas of the lower limbs, without scutulum involvement, associated with a large cubital nerve that had appeared in March 1997. Biological explorations revealed a nephrotic syndrome. Pathologic study of the renal biopsy concluded in amyloidosis. Treatment with colchinine stabilized the renal damage. One year later, a non-pruriginous, papular and bullous eruption occurred, localized essentially in the axillary and inguinal-crural folds of the forearms and legs. In the presence of an amyloidal deposit and intra-epidermal detachment, the cutaneous biopsy was evocative of bullous amyloidosis. The search for concomitant myeloma was negative. Treatment with colchinine was effective. The bullous lesions disappeared after 2 months, and 21 months later, renal damage was still stable. DISCUSSION: These particularities in evolution are exceptional and have never been described. A hypothetical modification in the physico-chemical properties of the amyloidal protein might explain the bullous eruption and stabilization of renal damage.

[Tracheopathia osteochondroplastica associated with a liver hydatic cyst broken in bronchi]. / Trachéopathie ostéochondroplastique associée à un kyste hydatique du foie fistulisé dans les bronches.

Tracheobronchopathia osteochondroplastica (TBOC) is an unusual respiratory disorder characterized by cartilaginous or bony mucosal nodules in the tracheobronchial tree. It mainly affects men over 50 years old and clinical manifestations are observed when obstructive or infectious complications occur. We report a case of tracheopathia osteoplastica of the upper third of the trachea in a young 35-year-old mal, fortuitously discovered while exploring a biliptysis caused by a broken hydatic cyst of the liver. TBOC can be associated with various metabolic, inflammatory and neoplastic disorders, but its pathogenesis remains unknown. A metaplastic origin is actually the main hypothesis proposed.