Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases

Collgros, Helena; Iglesias‐Sancho, Maribel; Tribó-Boixareu, M.J.; Creus-Vila, L.; Umbert-Millet, P.; Salleras-Redonnet, Montse

doi:10.1016/j.adengl.2014.12.013

Cited by 11 publications

(9 citation statements)

References 23 publications

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“…Multiple piloleiomyomas are often grouped around Blaschko lines, although linear, segmental, and zosteriform patterns have also been described [10], and the tumours can also be bilateral or disseminated [3]. The most frequent form of presentation consists of usually grouped segmentally with isolated disseminated lesions [3, 10, 12]. In our experience, tumours are usually oval, and when grouped they tend to be arranged with their largest diameters oriented in parallel (Fig.…”

Section: Discussionmentioning

confidence: 82%

Cutaneous Leiomyoma: A Clinical Study of 152 Patients

et al. 2021

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Background: Cutaneous leiomyoma (CL) is a benign smooth muscle tumour included in painful skin tumours. Multiple CLs are cutaneous markers of hereditary leiomyomatosis and renal cell cancer (HLRCC). Objectives: To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. Methods: Cases coded as CL in the database of the pathology department between 2004 and 2019 were included in the study. Medical records were retrospectively reviewed to obtain the following data: age, sex, location, number of lesions, diameter, evolution time at diagnosis, suspected clinical diagnosis, tenderness, status of resection margins, development of recurrence, follow-up time, and association with HLRCC. Results: 152 patients had CLs, 89 women and 63 men, mean age 56.26, SD 16.030 years. Subtypes were piloleiomyoma in 62 patients, angioleiomyoma in 80, and genital leiomyoma in 10. All of our 11 patients with multiple lesions corresponded to piloleiomyomas, and HLRCC was confirmed in 8 of them (73%). Patients with HLRCC were younger than patients with piloleiomyomas without HLRCC (34.88 vs. 56.17 years, p = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. Conclusion: In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.

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Section: Discussionmentioning

confidence: 82%

Cutaneous Leiomyoma: A Clinical Study of 152 Patients

et al. 2021

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“…3 The presence of multiple PL in a patient should raise suspicion for hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC; Reed syndrome), a familial cancer syndrome resulting from germline mutation of the fumarate hydratase gene and characterized by multiple cutaneous leiomyomas, uterine smooth muscle tumors (in female patients), and an increased incidence of renal cell carcinoma. 4,5 In our study cohort, 11 of the pilar leiomyomas were from one patient with documented Reed syndrome.…”

Section: Discussionmentioning

confidence: 99%

Incidence of mature adipocytic component within cutaneous smooth muscle neoplasms

2016

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Angioleiomyoma is a benign smooth muscle tumor of the subcutis. The presence of mature adipocytes has been described in this tumor under the rubric of 'angiolipoleiomyoma' or, erroneously, 'angiomyolipoma' (these are not PEComas). Previous studies have found adipocytes in only 2-3% of angioleiomyoma. Anecdotally, the incidence appeared to be greater than this in our practice. Moreover, the presence of adipocytes has not been evaluated in pilar leiomyoma or cutaneous leiomyosarcoma. We searched the pathology archives from 2007 to 2014 for all cutaneous and subcutaneous leiomyoma and leiomyosarcoma; cases were reviewed to confirm the diagnosis and evaluate for mature adipocytes. Seven of 73 total cases (10%) contained mature adipocytes: 1 of 33 pilar leiomyoma (3%), 4 of 22 angioleiomyoma (18%) and 2 of 18 leiomyosarcoma (11%). In our series, the 18% incidence of 'angioleiomyoma with fat' (our preferred terminology) is higher than the previously reported incidence of 2-3%. We also report the rare presence of mature adipocytes within pilar leiomyoma and cutaneous leiomyosarcoma, a finding not previously reported to our knowledge. Mature adipocytes may be present within cutaneous and subcutaneous leiomyomas and leiomyosarcomas and should not detract from the diagnosis or lead to concern for an adipocytic neoplasm or PEComa.

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“…Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is an autosomal dominant genetic disorder, characterized by the association between cutaneous and uterine leiomyomas and renal cell carcinoma. Uterine myomas usually appear at a mean age of 30 years, cutaneous lesions at a mean age of 40 years and renal tumours at a mean age of 44 years . We present a patient with HLRCC at the young age of 19 years.…”

Section: In the Absence Of Available Guidelines Below Are The Recommmentioning

confidence: 97%

“…The presence of multiple cutaneous leiomyomas is considered the most sensitive and specific clinical marker of HLRCC syndrome, presenting in up to 87% of patients . It is also often the first sign of the disease, appearing from the second decade of life with a mean age of 40 years . Uterine leiomyomas present in almost all women .…”

Section: In the Absence Of Available Guidelines Below Are The Recommmentioning

confidence: 99%