Cutaneous Leiomyoma: A Clinical Study of 152 Patients

Dermatology ◽  
2021 ◽  
pp. 1-7
Author(s):  
Joaquim Marcoval ◽  
Clàudia Llobera-Ris ◽  
Carlos Moreno-Vílchez ◽  
Rosa María Penín
Keyword(s):  
Smooth Muscle ◽  
Medical Records ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Upper Extremities ◽  
Resection Margins ◽  
Smooth Muscle Tumour ◽  
Skin Tumours ◽  
Hereditary Leiomyomatosis

<b><i>Background:</i></b> 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). <b><i>Objectives:</i></b> To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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, <i>p</i> = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. <b><i>Conclusion:</i></b> 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.

scholarly journals Cutaneous leiomyomatosis in a mother and daughter

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 124-127 ◽  
Author(s):  
André Lencastre ◽  
Joana Cabete ◽  
Rui Gonçalves ◽  
Alexandre João ◽  
Ana Fidalgo
Keyword(s):  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Family Counseling ◽  
Anterior Aspect ◽  
Increased Risk ◽  
Heterozygous Variant ◽  
Mother And Daughter ◽  
History Of

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.

First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy

2016 ◽  
Vol 20 (4) ◽  
pp. 334-336
Author(s):  
Kathryn Woolner ◽  
Ashley O’Toole ◽  
Lauren LaBerge
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Case Series ◽  
Review Of The Literature ◽  
Cancer Syndrome ◽  
Cutaneous Lesions ◽  
Hereditary Leiomyomatosis ◽  
In Pregnancy

Background: Reed’s syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma. Objective: This report describes a unique case of HLRCC because it presented in pregnancy with development of cutaneous pilar leiomyomas. Methods: Review of the literature for previous cases of Reed’s syndrome during pregnancy including PubMed and Medline search. Results: Genetic testing of this patient demonstrated a mutation in the fumarate hydratase ( FH) gene. Review of the literature showed only 1 previous case series that described the onset of cutaneous lesions during pregnancy. Conclusion: This case serves as a reminder that there may exist a correlation between pregnancy and the first manifestation of cutaneous lesions in patients with HLRCC, and thus an increased clinical suspicion is warranted during this period.

scholarly journals Duodenal Leiomyosarcoma Mimicking a Pancreatic Pseudocyst

HPB Surgery ◽  
1994 ◽  
Vol 8 (1) ◽  
pp. 49-52 ◽  
Author(s):  
C. Sperti ◽  
C. Pasquali ◽  
F. Di Prima ◽  
R. Baffa ◽  
S. Pedrazzoli
Keyword(s):  
Smooth Muscle ◽  
Pancreatic Pseudocyst ◽  
Frozen Section ◽  
Exploratory Laparotomy ◽  
Cystic Mass ◽  
Tumour Markers ◽  
Cyst Fluid ◽  
Radiological Findings ◽  
Smooth Muscle Tumour

A case of duodenal leiomyosarcoma presenting as a cystic mass is reported. Amylase, tumour markers levels in the cyst fluid and radiological findings suggested an inflammatory pancreatic pseudocyst. Exploratory laparotomy and frozen section examination showed a smooth muscle tumour of the duodenum. Pancreatoduodenectomy with pylorus-preser vation was performed and the patient remained symptom-free at 8 months follow-up.

scholarly journals Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

2021 ◽  
Vol 11 ◽  
Author(s):  
Mohammad Al-Shinnag ◽  
Helen Marfan ◽  
Rachel Susman ◽  
Jan Wakeling ◽  
Sonja Gustafson ◽  
...  
Keyword(s):  
Renal Cell ◽  
Cell Cancer ◽  
Uterine Fibroids ◽  
National Guidelines ◽  
Clinical Model ◽  
Lung Cysts ◽  
Renal Mri ◽  
Cutaneous Leiomyomas ◽  
Hereditary Leiomyomatosis

AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.ResultsFifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11–55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.ConclusionEvidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.

scholarly journals Lágyéksérvet utánzó gigantikus méretű myxoid leiomyoma

2016 ◽  
Vol 157 (10) ◽  
pp. 392-395
Author(s):  
Orsolya Huszár ◽  
Attila Zaránd ◽  
Gyöngyi Szántó ◽  
Viktória Juhász ◽  
Eszter Székely ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Smooth Muscle ◽  
Soft Tissue Mass ◽  
Smooth Muscle Tumour ◽  
Tissue Mass ◽  
Abdominal Symptoms ◽  
History Of ◽  
The Right

Leiomyoma is a rare, smooth muscle tumour that can occur everywhere in the human body. The authors present the history of a 60-year-old female, who had a giant, Mullerian type myxoid leiomyoma in the inguinal region mimicking acute abdominal symptoms. After examination the authors removed the soft tissue mass in the right femoral region reaching down in supine position to the middle third of the leg measuring 335 × 495 × 437 mm in greatest diameters in weight 33 kg. Reconstruction of the tissue defect was performed using oncoplastic guidelines. During the follow-up time no tumour recurrence was detected and the quality of life of the patient improved significantly. Orv. Hetil., 2016, 157(10), 392–395.

Clinical Value of Cold Knife Conization as Conservative Management in Patients With Microinvasive Cervical Squamous Cell Cancer (Stage IA1)

2014 ◽  
Vol 24 (7) ◽  
pp. 1306-1311 ◽  
Author(s):  
Yue He ◽  
Yu-Mei Wu ◽  
Qun Zhao ◽  
Tong Wang ◽  
Yan Wang ◽  
...  
Keyword(s):  
Lymph Node ◽  
Squamous Cell Cancer ◽  
Cell Cancer ◽  
Resection Margins ◽  
Clinical Value ◽  
Fertility Sparing ◽  
Cold Knife ◽  
Positive Resection Margins ◽  
Cold Knife Conization

ObjectiveThe aim of the study is to evaluate the clinical value of cold knife conization (CKC) as a conservative management in patients with microinvasive cervical squamous cell cancer (SCC).MethodsThis retrospective study enrolled 108 women with diagnosis of microinvasive cervical SCC (stage IA1) by pathology between 2009 to 2012 at Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Eighty-three patients underwent further hysterectomy.ResultsOf the 83 patients (76.9%) who underwent further hysterectomy, 48 patients (57.8%) underwent extrafascial hysterectomy, 30 patients (36.1%) underwent extensive hysterectomy, and 5 patients (6.1%) underwent radical hysterectomy. A total of 19 patients underwent pelvic lymph node dissection without any lymph node metastasis, and a total of 5 patients (4.6%) had lymph vascular space invasion without any positive pelvic lymph node dissection. Of the 83 patients who underwent further hysterectomy and were followed up for 1 year, 18 patients with positive resection margins indicating cervical residual lesions (CIN1-3) have greater likelihood than 65 patients with clear resection margins, but there were no significant differences (P= 0.917); of the 25 patients who underwent CKC as final therapy and were followed up for 1 year, 2 patients with positive resection margins had the second CKC surgery, 1 was diagnosed with CIN1, and the other was diagnosed with cervicitis by pathology; 23 patients had clear resection margins, 2 patients underwent the second CKC 3 months after the first CKC because of the abnormal Thinprep Cytologic Test (TCT) result, and they were both diagnosed with microinvasive cervical SCC (stage IA1) by pathology with clear resection margins. No one enrolled in this study presented metastasis and progression within 1 year of follow-up.ConclusionsThese findings provide the clinical evidences for the possibility of fertility-sparing treatments, especially CKC as conservative treatment for microinvasive cervical SCC. Appropriate further treatments (the second CKC) and follow-up are recommended for patients who strongly desire fertility sparing.

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