Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.

Background: Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD) is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases.

A mesothelial-lined cyst: an unusual presentation.

A 12-year-old girl presented with a "threadlike fiber" in her underwear associated with lower abdominal pain. She denied insertion of any foreign body, and at examination under anesthetic, a threadlike substance was seen exiting her external cervical os. Her only medical history was of an open appendicectomy for perforated appendicitis.

Pilomatrixoma--accuracy of clinical diagnosis.

Background/purpose: Pilomatrixoma is a common tumor of skin appendages in children. The aim of the study was to assess the accuracy of clinical diagnosis and factors contributing to misdiagnosis.

Methods: A retrospective case note review of patients who had pilomatrixoma excised during a 5-year period in a tertiary referral children's hospital in the UK.