Unilateral Segmental Type 2 Hereditary Leiomyomatosis and Renal Cell Cancer
Keywords:
Hereditary leiomyomatosis and renal cell carcinoma, Reed syndrome, Uterine leiomyoma, cutaneous leiomyoma, FH mutation, unilateral segmental type 2Abstract
Our case report describes a patient who exhibited clinical unilateral segmental involvement of painful, firm papules and nodules on the right side of the face, upper chest, back, and forearm. Leiomyomatosis was preferred and confirmed by skin biopsy based on clinical presentation and uterine leiomyoma history. Our patient meets the criteria diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC), known as Reed syndrome, with multiple cutaneous leiomyomas confirmed by biopsy and early-onset symptomatic uterine fibroids. Imaging revealed benign renal cysts, a finding with increased incidence in HLRCC patients. Genetic testing revealed a heterozygous FH:c.574C>T variant in exon 5, establishing the diagnosis of HLRCC. Due to the risk of renal malignancies in HLRCC patients, ongoing surveillance and early genetic screening are essential to improve patient outcomes and prevent serious complications.
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เนื้อหาและข้อมูลในบทความที่ลงตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นข้อคิดเห็นและความรับผิดชอบของผู้เขียนบทความโดยตรงซึ่งกองบรรณาธิการวารสาร ไม่จำเป็นต้องเห็นด้วย หรือร่วมรับผิดชอบใดๆ
บทความ ข้อมูล เนื้อหา รูปภาพ ฯลฯ ที่ได้รับการตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นลิขสิทธิ์ของวารสารฯ หากบุคคลหรือหน่วยงานใดต้องการนำทั้งหมดหรือส่วนหนึ่งส่วนใดไปเผยแพร่ต่อหรือเพื่อกระทำการใดๆ จะต้องได้รับอนุญาตเป็นลายลักอักษรจากบรรณาธิการวารสารโรคผิวหนังก่อนเท่านั้น
