Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure.

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.

Objectives: To report the phenotypic, genetic findings and outcome of children with lupus manifestations associated with primary immunodeficiency diseases (PIDs).

Methods: Data are retrospectively collected on patients with lupus manifestations and PIDs seen between 1998 and 2019. Data comprised the clinical findings and genetic testing, the response to treatment and the accrual damage related to SLE.

Endometriosis of the Urinary Bladder Causing a Right Hydronephrosis: A Case Report.

BACKGROUND Endometriosis is a chronic and benign condition in which endometrial glands and stroma are present outside the uterine cavity. The pathogenesis of endometriosis is not fully understood; however, several mechanisms have been hypothesized. Endometriosis is a common clinical presentation in gynecology, but affecting the urinary tract is a rare phenomenon, occurring in 0.