"ACTINIC RETICULOID": A CHRONIC DKHMATOSIS ASSOCIATED WITH SEVERE PHOTOSENSITIVITY AND THE HISTOLOGICAL RESEMBLANCE TO LYMPHOMA

SUMMARY.— Ten elderly male patients with severe persistent photosensitivity of unknown cause are described. The clinical presentation was that of an intense eczematous eruption affecting exposed sites but spreading elsewhere. Frequent episodes of erythroderma were characteristic and in some cases the marked thickening and ridging of the exposed skin simulated a lymphoma. In contrast to most other photodermatoses the photosensitivity extended through the u.v. to the visible spectrum. A wide range of histological changes were noted, in several instances closely resembling lymphoma because of the intensity and pleomorphism of the infiltrate.     

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

PurposePIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth.MethodsThirty-nine participants with PROS and progressive overgrowth were enrolled into open-label studies across three centers, and results were pooled. For the primary outcome, tissue volumes at affected and unaffected sites were measured by dual energy X-ray absorptiometry during 26 weeks of untreated run-in and 26 weeks of sirolimus therapy.ResultsThirty participants completed the study. Sirolimus led to a change in mean percentage total tissue volume of -7.2% (SD 16.0, p = 0.04) at affected sites, but not at unaffected sites (+1.7%, SD 11.5, p = 0.48) (n = 23 evaluable). Twenty-eight of 39 (72%) participants had ≥1 adverse event related to sirolimus of which 37% were grade 3 or 4 in severity and 7/39 (18%) participants were withdrawn consequently.ConclusionThis study suggests that low-dose sirolimus can modestly reduce overgrowth, but cautions that the side-effect profile is significant, mandating individualized risk-benefit evaluations for sirolimus treatment in PROS.     

氨苯砜单一疗法治疗持久性隆起性红斑一例并文献复习

报道1例氨苯砜单一疗法治疗持久性隆起性红斑并对既往报道文献进行复习。患者，女，80岁。双手掌、臀部、双下肢及足底红褐色斑片半年。组织病理检查：表皮角化过度、角化不全，棘层轻度增厚，真皮浅中层血管壁纤维蛋白样变性，血管周围轻度嗜中性粒细胞，少许淋巴细胞浸润，局部胶原纤维嗜碱性变。诊断：持久性隆起性红斑。口服氨苯砜100 mg,日1次，3个月后随访，皮损明显好转。