Image Gallery: Multiple pigmented follicular cysts, with a familial association

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Folliculogenesis is the development of ovarian follicles, the specialized structures within the ovarian cortex where oogenesis, or egg development, occurs. This process is essential for female reproductive health and begins during fetal development when primordial follicles are formed. Each primordial follicle comprises a primary oocyte in the center, surrounded by a single layer of squamous pre-granulosa cells. These follicles remain dormant in late prophase I of meiosis until triggered by...

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,...