Multiple Cutaneous Leiomyomas Research Articles

Male Nipple Leiomyoma: A Rare Case Report and Review of Literature

Leiomyomas are benign smooth-muscle tumours and their cutaneous forms are rare clinical entities with subtypes including pilar leiomyoma, angioleiomyoma, and genital leiomyoma. Nipple leiomyomas, arising from the mammillary muscle cells of the nipple, are the least common type of genital leiomyoma. We present herein a case of male nipple leiomyoma with a detailed analysis of histologic features and review of literature.

820 A germline mutation of fumarate hydratase in a case with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer

820 A germline mutation of fumarate hydratase in a case with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer

Multiple Cutaneous Leiomyomas

Multiple Cutaneous Leiomyomas

Reed’s syndrome: a combination of a renal cyst with leiomyoma of the skin and uterus (clinical observation)

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reeds syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of multiple cutaneous and uterine leiomyomatosis with renal cell carcinoma. The diagnosis of multiple leiomyomas is based on the identification of morphological characteristic rashes (small, oval, red-brown or flesh-colored nodules located around the hair follicles, often painful) and is confirmed by the method of pathomorphological examination. Treatment of leiomyomas depends on their number, size, area of skin lesion and severity of subjective symptoms. With single rashes, surgical excision of the largest and most painful elements is possible, with severe pain syndrome ― calcium channel blockers, alpha-blockers and gabapentin. Cryotherapy, diathermocoagulation, and laser ablation with a carbon dioxide laser are used to destroy the nodes.
 The presence of cutaneous leiomyomas in patients dictates the need for careful collection of anamnesis, including family and obstetric-gynecological, conducting a full-fledged clinical, laboratory and instrumental examination and consulting by related specialists. Annual screening for early detection and therapy of renal cell carcinoma is also mandatory.
 Due to the existing probability of the hereditary nature of Reeds syndrome, a thorough examination of the patients relatives is necessary.
 We report a case of a 58-year-old woman with Reeds syndrome: multiple cutaneous leiomyomas, uterine leiomyoma and renal cysts.

Sonographic Characteristics of Leiomyomatous Tumors of Skin and Nail: a Case Series.

IntroductionThe clinical appearance of the uncommon cutaneous leiomyomatous tumors (LMT) is nonspecific, leading to an extensive differential diagnosis. A non-invasive tool such as high-frequency ultrasound (HFUS) is required for characterizing LMTs in the clinical setting. Although the sonographic features of their uterine counterpart had been well reported, there are only scant reports on the use of ultrasound for studying leiomyomatous neoplasms of the skin and nail.ObjectivesTo identify and well characterize common sonographic features of LMT.MethodsA retrospective analysis of HFUS images of LMT in three different patients, two of them with multiple cutaneous leiomyomas and another with a subungual leiomyosarcoma.ResultsIn all cases, several shared ultrasound characteristics were found. Moreover, we describe a new ultrasonographic sign in cutaneous leiomyomas called the “pine tree” sign, with other features not previously reported.ConclusionsThese ultrasonographic characteristics would strengthen the clinical diagnosis, assist with treatment management, and may help avoid serial biopsies in cases with multiple cutaneous lesions.

A rare case report of piloleiomyomas

Leiomyoma is a rare benign tumor of smooth muscle. In the word leiomyomas, “Leio” means “smooth”, “myo” means ‘muscle’, and “oma” means ‘tumor’. It may arise from smooth muscles of the skin, uterus, bladder, urethra. Depending upon the origin of skin smooth muscles cutaneous leiomyomas are of three main types: 1. Piloleiomyoma or leiomyoma cutis or pilar leiomyoma derived from arrector pili muscle; 2. Genital leiomyoma or dartoic myoma is derived from smooth muscle of the scrotum, vulva, and areola of the nipple, and 3. Angioleiomyoma is derived from the media of blood vessels. We report one such rare case of multiple piloleiomyomas.

Diagnostic utility of ERG immunostaining in dermatofibroma

AimsDermatofibroma/fibrous histiocytoma (DF/FH) is a common cutaneous mesenchymal neoplasm exhibiting benign biological behaviour. However, the immunohistochemical utility of erythroblast transformation-specific-related gene (ERG) for diagnosing DF remains unknown. The authors reviewed...

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome

FH Tumour Predisposition Syndrome, also known as Hereditary Leiomyomatosis and renal cell cancer (HLRCC), or Reed Syndrome, is an autosomal dominant condition clinically characterized by multiple cutaneous leiomyomas, multiple early-onset uterine leiomyomas and early-onset renal cell cancer. Here we report a young female with FH Tumour Predisposition Syndrome with no clinical features except early-onset uterine leiomyomas. Whilst there is a significant history of uterine leiomyomas in her family, there is no history of cutaneous leiomyomas or renal cell cancer (RCC). Uterine leiomyomatosis in young adults may represent a narrow phenotypic variant of FH Tumour Predisposition Syndrome. It is important that young women who present with multiple leiomyomata or leiomyomata with atypical features are referred for molecular genetic testing.

Cutaneous pilar leiomyoma completely treatable by surgical resection, a case report.

Background: Cutaneous pillar leiomyoma (CPL) is a benign skin tumour of errector pili muscles and is rare condition. Clinically it appears as small nodule which are in the form of small groups. These are tender to touch, pressure, cold, and emotional stimuli. Different modalities have been tried to reduce pain and discomfort. Surgery is a treatment of choice in lesion which are very tender and associated with disturbance of social life. The objective of treatment in to achieve complete cure from pain with functional and aesthetic improvement. Case: A case of a male patient age 28 years, with multiple cutaneous leiomyomas on the left anterior chest wall and lateral chest wall. On clinical examination there were multiple nodular skin lesions that manifested as brownish erythematous. The lesions increased gradually during the last 2 years, extending to the left lateral chest wall. Complete surgical excision of tumor was done, followed by coverage with split thickness skin graft taken from the thigh. Patient was followed up fortnightly up to six month. Results: After surgical treatment, there was complete pain relief and acceptable cosmetic outcome, which allowed the social reintegration. Conclusion: Cutaneous pilus leiomyomas is difficult to treat. The radical resection of tumor is important to resolve the symptoms with prevention of tumor recurrence.

Cutaneous leiomyoma in a male: An uncommon case report

Cutaneous leiomyomas, also known as pilar leiomyomas, arise from the arrectores pilorum muscles and are made up of a poorly circumscribed proliferation of haphazardly arranged smooth muscle fibers located in the dermis that appears to infiltrate the surrounding tissue and may extend into the subcutis. Cutaneous leiomyomas are rare, benign, smooth muscle tumors. The most common type of cutaneous leiomyoma, angioleiomyoma arise from the tunica media of blood vessels. The other subtypes, piloleiomyomas and genital leiomyomas arise from the arrector pili musculature of the hair follicle and from the smooth muscle found in the scrotum, labia, or nipple, respectively. Here, we presented a case of cutaneous leiomyoma, in a young male presenting with a swelling in the arm.

Multiple Cutaneous Leiomyomas Showing Increased FDG Uptake

Cutaneous leiomyomas are rare, sporadic, or inherited benign tumors arising from smooth muscle cells of the skin associated with various disorders. We present a case of multiple cutaneous leiomyomas showing increased FDG uptake with SUVmax of 19.9. This case indicates cutaneous leiomyoma should be considered as a rare differential diagnosis in patients with hypermetabolic cutaneous lesions. Careful correlation with clinical history is needed to avoid misdiagnosis.

Nipple leiomyoma: A rare neoplasm with a broad spectrum of histologic appearances

Cutaneous leiomyomas are rare benign smooth-muscle tumors. These lesions are distinguished based on their cell of origin and are subclassified as pilar leiomyoma, angioleiomyoma, and genital-type leiomyoma. Nipple leiomyoma is the least common genital-type leiomyoma, arising from the dartoic muscle cell of the nipple. Histologic examination of the lesion is necessary for definitive diagnosis, and these uncommon tumors can pose a diagnostic challenge. We describe herein a series of six nipple leiomyomas with a spectrum of histologic appearances.

Cutaneous atypical leiomyoma: A rare form of pilar leiomyoma poses a diagnostic challenge

Cutaneous atypical leiomyoma: A rare form of pilar leiomyoma poses a diagnostic challenge

Reed Syndrome; Multiple Cutaneous and Uterine Leiomyomatosis

Introduction: Reed syndrome is a rare autosomal dominant disorder with a genetic defect in the fumarate hydratase. Patients with Reed syndrome have multiple cutaneous leiomyomas, uterine leiomyomas or leiomyosarcomas with increased risk of renal carcinoma. Case Presentation: The current study presented a 57-year-old female with multiple cutaneous and uterine leiomyomatosis with a positive family history. She and her family had no evidence of renal carcinoma. Conclusions: Multiple skin leiomyomas could be considered as a cutaneous marker for uterine leiomyomatosis and possible renal cell carcinoma in the familial presentations.

Solitary Pilar Leiomyoma of the Finger: A Case Report

Solitary Pilar Leiomyoma of the Finger: A Case Report

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by autosomal dominant germline mutations in the fumarate hydratase (FH) gene and is characterized by cutaneous leiomyomas, uterine leiomyomas and aggressive renal malignancies. We conducted a retrospective chart review to characterize the patients referred to our Regional Genetics Program for assessment of HLRCC from 2004 to mid-2016. Forty-eight of 69 (69.5%) referred individuals were positive for a pathogenic or likely pathogenic variant in FH; they had an average age of 39.1years. There were 11 different FH variants among them. As expected, the most sensitive indications for a positive genetic test were papillaryrenal cell carcinoma (RCC) at a young age (5/5; 100%) and multiple cutaneous leiomyomas (18/19; 95%). However, only twenty-two of 48 (46%) individuals with a positive molecular test had cutaneous leiomyomas, which is considerably lower than previously reported and supports the likelihood of ascertainment bias in previous reports. Notably, we have experience with 1 large family in which there were no cutaneous leiomyomas across a large age range. We confirm that multiple cutaneous leiomyomas and papillary RCCs at a young age have a high positive predictive value for a molecular diagnosis of HLRCC, but that cutaneous leiomyomas are less prevalent in HLRCC than previously understood, and therefore the condition is likely to be under-ascertained. Our understanding of the phenotypic spectrum of HLRCC is still evolving.

Two patients with presumed HLRCC presenting with multiple fumarate hydratase deficient cutaneous leiomyomas

Background: Multiple cutaneous leiomyomas may be the initial presentation of hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) – an autosomal dominant tumour syndrome attributable to germline fumarate hydratase (FH) mutation. The associated uterine and cutaneous leiomyomas are benign and HLRCC's main clinical significance is in the high risk of a unique and aggressive renal cell carcinoma. Early identification of patients and kindreds with HLRCC may allow risk reduction strategies.

Reed's Syndrome.

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.

Teledermatology leading to an important diagnosis in an underserved clinic

Cutaneous signs can be the first manifestation of important medical diagnoses, including inherited cancer syndromes, but access to dermatologic evaluation is especially challenging for uninsured patients. Herein, we present a case in which a volunteer academic teledermatology triage program was used by a community health clinic to make a diagnosis of multiple cutaneous leiomyomas, which confer a high likelihood of hereditary leiomyomatosis and renal cell cancer syndrome, also known as Reed syndrome; this prompted malignancy screening for the patient. Importantly, this case underscores the potential for teledermatology to improve access to dermatologist evaluation and make crucial diagnoses in patients with barriers to care.

An atypical case of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-associated renal cell carcinoma identified by next-generation sequencing

Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome. Patients with HLRCC typically exhibit multiple cutaneous and uterine leiomyomas at a young age. They also display a 20–30% lifetime risk for renal carcinomas, which commonly present before 40years of age, have a distinct papillary morphology, and an aggressive phenotype. However, the clinical presentation of HLRCC and the morphology of HLRCC-associated renal cell carcinomas (RCCs) can be variable and thereby evade diagnosis. Here, we present two cases of HLRCC-associated RCC to emphasize this point. The first case is typical of HLRCC, involving a 29-year-old man with multiple cutaneous leiomyomas and a renal tumor with characteristic papillary morphology. Next, we describe a 48-year-old man presenting with metastatic cancer of unknown primary origin and no skin findings. Interestingly, next-generation sequencing of his metastatic tumor identified two unique FH mutations. In both cases, FH mutations were confirmed as germline. These cases highlight the variable presentations of HLRCC-associated RCC and underscore the importance of screening tumors of unknown origin for FH mutations using next-generation sequencing.