Multiple Cutaneous Leiomyoma Derived from the Mutation in Fumarate Hydratase Gene: A Case Report

Kim, Yoong Soo; Tak, Kyoung Seok; Cho, Chung Nam; Chung, Chan Min; Oh, Suk Joon; Lee, Min Jin

Abstract

PURPOSE: Multiple skin leiomyoma and uterine myoma bearing autosomal dominant traits are benign smooth muscle tumors which originate in skin or female uterus. Skin leiomyoma occurs after gene mutation originating from arrector pili muscle of hair follicle where its clinical manifestations vary significantly from person to person. Our department hereby reports the histological findings and genetic evaluations of this very rare disease.
METHODS
A 57-year-old woman presented in our institute with multiple tumors in the left and central parts of her back that started to appear since 19 years ago. The patient was diagnosed as having uterine myoma 15 years ago and underwent hysterectomy. Biopsy has been done on the specimen, and genomic DNA was separated from Fumarate hydratase gene for it to go through PCR amplification. The results of PCR amplification were aligned by sequencer.
RESULTS
According to the results of biopsy, tumor cells were spindle-shaped and were aligned in a bundle where there was no dysplasia or mitosis. Moreover, these cells had abundant eosinophilic cytoplasm with elongated nucleus, and benign leiomyoma that showed positive reactions to SMA stain were found. In genetic examination, mutations such as heterozygous single nucleotide substitutions were found in alignments of amplified DNA.
CONCLUSION
Multiple skin leiomyoma and uterine myoma are relatively uncommon diseases that are transmitted through autosomally dominant traits from genetic mutations. When a patient's chief complaint lies upon skin-colored or brown masses that occur in multiples appearing in the trunk or extremities with characteristic clinical symptoms and histological findings, and when the patient's family history is acknowledged such as skin or uterine leiomyoma or renal tumor, necessary genetic examination on multiple skin leiomyoma and uterine myoma could be done, and thereby precise diagnosis could also be made.