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Review
. 2021 Jan 18;16(1):34.
doi: 10.1186/s13023-020-01653-9.

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

Zahraa Chayed  1 , Lone Krøldrup Kristensen  2 , Lilian Bomme Ousager  2 , Karina Rønlund  3 , Anette Bygum  4
Affiliations
Review

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

Zahraa Chayed et al. Orphanet J Rare Dis. .

Abstract

Background: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients.

Results: CLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years.

Conclusion: We suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.

Keywords: HLRCC; Hereditary leiomyomatosis and renal cell carcinoma; Surveillance program.

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Conflict of interest statement

The authors declare that they have no competing interest.

Figures

Fig. 1
Fig. 1
Typical appearance of cutaneous leiomyomas. a A single prominent red nodule, surrounded by two smaller flat lesions located at the right breast of patient 3. b A cluster of skin colored to reddish CLMs located on the upper arm in the mother of patient 3
Fig. 2
Fig. 2
Distribution of pain triggering stimuli
Fig. 3
Fig. 3
Distribution of CLMs
Fig. 4
Fig. 4
Overview of cardinal symptoms leading to a diagnosis of HLRCC
See this image and copyright information in PMC

References

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