Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.

ABSTRACT:

Background

Autosomal dominant genodermatoses with a predisposition for cancer make up a well-described disease group with unique cutaneous alterations in each. This should urge dermatologists to think of other consequences beyond the skin. Histological examination serves as the gold standard, and it is an effective tool for the first investigation, even nowadays in the "next-generation genetic" era. Multiple appearances of benign tumours histologically proved to be cutaneous leiomyomatosis suggest a rare disorder with germline heterozygous pathogen variant in the FH gene. The encoded fumarate hydratase is a Krebs cycle enzyme, and has a role in catalysing the transition from fumarate to malate.

Case presentation

Years before the easy accessibility of the complete gene

SUBMITTER: Karteszi J 

PROVIDER: S-EPMC12011599 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature