Ulcerating nodules on a background of lower leg lymphoedema.

A patient presented with a 3-month history of a rapidly enlarging ulcerated tumour on his lower leg, occurring on a background of chronic idiopathic lymphoedema of approximately 10 years' duration. Histology revealed extensive infiltration of the dermis by a vascular tumour with pleomorphic and hyperchromatic endothelial cells, which stained positive for vascular markers CD31, CD34 and ERG. A diagnosis of lymphoedema-associated angiosarcoma was reached and our patient was treated with isolated limb perfusion with high-dose melphalan and tumour necrosis factor-alfa.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).

Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function.

A case of gestational gigantomastia in a 37-years-old woman associated with elevated ANA: a casual linkage?

Hypertrophy of the breast (macromastia and gigantomastia) is a rare medical condition of the breast connective tissues. The etiology of this condition is still not clear; rarely, gigantomastia has been reported to develop in the setting of an autoimmune illness. We reported a case of a 37-years-old woman with undifferentiated connective tissue disease of 2-years duration presented with enlargement of breasts.