Cold-associated perniosis of the thighs histopathologically mimicking lupus. Six observations.

BACKGROUND: Equestrian cold panniculitis has been described since 1980 in horse riders or in stable employees. Histological aspect is underdescribed. PATIENTS AND METHODS: We describe clinical and histological features of six horse riding or stable employees patients presenting with upper lateral thigh lesions during the winter months between 2014 and 2016 in our dermatological department. RESULTS: Six horse riding or stable employees ladies without any known disease presented with similar symptoms. They had urticarial or violaceous, slightly pruritic, sometimes necrotic lesions of the upper lateral thighs. Clinically, equestrian cold panniculitis, insect bite or a caustic dermatitis was suspected. Four of these patients had a cutaneous biopsy. They all showed a similar histological appearance resembling lupus erythematosus, combining dermo-epidermal lesions, with foci of interface dermatitis, an abundant dermal lymphocytic infiltrate and a dermal mucinosis. Hypodermal infiltration was present on samples including subcutis. Laboratory workup for systemic disease was unremarkable for two patients and not performed for the four others, having no other clinical sign of lupus. All patients improved rapidly with very high potent topical steroids. CONCLUSION: Cold-associated perniosis of the thighs should be considered whenever a histopathological appearance of lupus is associated with lesions of the upper lateral thighs in patients practicing horse riding. This disease belongs to the spectrum of miscellaneous cold-induced dermatoses in which histopathological lesions identical to lupus can be encountered.

Development of an AAV9 coding for a 3XFLAG-TALEfrat#8-VP64 able to increase in vivo the human frataxin in YG8R mice.

Artificially designed transcription activator-like effector (TALE) proteins fused to a transcription activation domain (TAD), such as VP64, are able to activate specific eukaryotic promoters. They thus provide a good tool for targeted gene regulation as a therapy. However, the efficacy of such an agent in vivo remains to be demonstrated as the majority of studies have been carried out in cell culture. We produced an adeno-associated virus 9 (AAV9) coding for a TALEfrat#8 containing 13 repeat variable diresidues able to bind to the proximal promoter of human frataxin (FXN) gene. This TALEfrat#8 was fused with a 3XFLAG at its N terminal and a VP64 TAD at its C terminal, and driven by a CAG promoter. This AAV9_3XFLAG-TALEfrat#8-VP64 was injected intraperitoneally to 9-day-old and 4-month-old YG8R mice. After 1 month, the heart, muscle and liver were removed and their FXN mRNA and FXN protein were analyzed. The results show that the AAV9_3XFLAG-TALEfrat#8-VP64 increased the FXN mRNA and FXN protein in the three organs studied. These results corroborate our previous in vitro studies in the FRDA human fibroblasts. Our study indicates that an AAV coding for a TALE protein coupled with a TAD may be used to increase gene expression in vivo as a possible treatment not only for FRDA but also for other haploinsufficiency diseases.

[Proliferating Brenner tumor: case report]. / Tumeur de Brenner proliférante: à propos d'un cas.

Brenner tumors account for only 1 to 2% of ovarian tumors. Proliferating Brenner tumors are characterized by an epithelial proliferation, resembling superficial well-differentiated urothelial carcinomas. A single 29-year-old patient was operated for an ovarian tumor. On gross examination, the tumor, which originated in the left ovary, was cystic multilocular and presented polyoid excrescences. Definitive histological exam showed a papillary proliferation lined by transitional cells without stroma infiltration. Mucinous cells lined some cavities. The diagnosis of proliferating Brenner tumor was made. Clinical and pathological characteristics of this rare entity will be discussed.