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. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding.

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. RESULTS: A total of 39 patients (22 female) were reviewed. Thirty-four patients had lupus manifestations and six patients with SLE-like manifestations. Genetic analysis was performed in 25 patients. Complement deficiency was the most frequent PIDs; 26 patients were C1q deficient, three patients had C3 deficiency, two patients had C4 deficiency and one patient with heterozygous C8b variant. The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3. Mucocutaneous lesions, arthritis and lung involvement were the main clinical features. 84.1% experienced recurrent infections. The mean accrual damage was 2.7 ± 2.2. There were five deaths because of infection. CONCLUSION: This study suggests that patients with lupus manifestations and early onset disease, family history of SLE or recurrent infections should undergo immunological work-up and genetic testing to rule out PIDs.

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 0.3-12% of cases. In more severe forms, the initial presentation may be hydronephrosis or infertility. CASE REPORT We describe the case of a 25-year-old Saudi woman who presented with obstructive urinary tract symptoms and was diagnosed with urinary bladder endometriosis complicated with a right hydronephrosis. After thorough investigations and workups, the management was taken on by a multidisciplinary team approach. CONCLUSIONS This case report shows that hormonal therapy management resulted in a satisfactory outcome contrary to the surgical resection approach that is discussed in many articles.