Publications by authors named "Maria Victoria Gonzalez Ibanez"
Intestinal (tailgut) cysts or retrorectal cystic hamartomas are rare benign lesions that are included in the category of developmental cystic lesions. Their origin is still uncertain, although several hypotheses have been proposed to explain their development. They are located mainly in the presacral (retrorectal) space and predominately affect middle-aged women (40-60 years).
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- Hereditary leiomyomatosis (HL) is a rare genetic disorder caused by mutations in the fumarate hydratase (FH) gene, which follows an autosomal dominant inheritance pattern.
- Patients with HL have a higher likelihood of developing smooth muscle tumors and renal cancer.
- A case study is presented of a 39-year-old man diagnosed with HLRCC, who showed no family history or notable skin symptoms at the time of his diagnosis.