[Do you know this syndrome? Piloleiomyoma]

Thais Jerez Jaime1, Tatiana Jerez Jaime, Daniel Fernandes Melo

  • 1Hospital Naval Marcílio Dias, Rio de Janeiro, Brazil. thaisjerez@yahoo.com.br

Summary

Reed syndrome, a rare condition linking skin piloleiomyomas and uterine fibroids, can also be associated with kidney cancer. This case study highlights monitoring asymptomatic patients with this rare genetic disorder.

Related Concept Videos

Appendicitis01:19

Appendicitis

Appendicitis is an acute inflammatory condition of the vermiform appendix, most commonly caused by obstruction of its lumen. The appendix is a narrow, blind-ended pouch that extends from the cecum, making it particularly prone to obstruction. Causes include fecaliths, lymphoid hyperplasia (often after viral infections), parasites, tumors, or foreign bodies. This obstruction initiates a cascade of pathological changes.Luminal Obstruction and Early InflammationAfter obstruction, normal mucosal...
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
Pyloric Obstruction01:11

Pyloric Obstruction

Pyloric obstruction, also referred to as gastric outlet obstruction, is a condition characterized by narrowing or blockage at the pylorus—the muscular valve regulating the flow of stomach contents into the duodenum. When this passage becomes impaired, the stomach cannot effectively empty its contents into the small intestine. This disruption leads to a range of gastrointestinal symptoms, including early satiety, bloating, epigastric pain, postprandial nausea, persistent vomiting, and...
Disorders of the Female Reproductive System01:24

Disorders of the Female Reproductive System

The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Uterine Tubes01:16

Uterine Tubes

The uterine or fallopian tubes function as the conduit through which oocytes travel from the ovaries to the uterus. Each fallopian tube measures approximately 10 to 13 cm long and is anatomically divided into the infundibulum, ampulla, isthmus, and interstitial part (or intramural segment). The infundibulum is characterized by its funnel shape and features extensions called fimbriae which reach towards the peritoneal cavity. These fimbriae play a critical role during ovulation as they extend...