Presentation
This report presents the case of a nulliparous premenopausal woman with no other contributory history who presented with DPL 3 years after UAE. The presentation of this patient suggests the potential for a causal relationship between UAE and DPL. [ncbi.nlm.nih.gov]
Entire Body System
- Pain
A 32-year-old male presented with multiple painful, elevated lesions over the trunk, upper and lower limbs since 3 years. The lesions were painful on cold exposure. [ijdvl.com]
Solitary painful lesions can be surgically removed. Medications given to reduce pain include alpha blockers, calcium channel blockers (ex. nifedepine), antiepileptic drugs, nitroglycerine and antidepressants. [orpha.net]
"Successful pain relief of cutaneous leiomyomata due to Reed syndrome with the combination treatment of pregabalin and duloxetine". J Pain Symptom Manage. vol. 38. 2009. pp. e3-5. [dermatologyadvisor.com]
Non-specific symptoms such as abdominal pain, vaginal bleeding, abdominal mass or gastrointestinal signs are described. Rare cases of malignant transformation have been reported. [ncbi.nlm.nih.gov]
- Ascites
LPD with ascites and endometriosis however has not yet been reported. [ncbi.nlm.nih.gov]
Mullings AM, Char G, Martin MP, et al : Intravenous leiomyomatosis with massive ascites. Int J Gynecol Obstet 37:285–288 1992. CrossRef Google Scholar 13. [link.springer.com]
Clinical manifestations involve abdominal pain, abdominal or pelvic mass with ascites, and thrombocytosis. Rarely the tumor may spread into the pleural space. The three main histological types are epithelioid, sarcomatoid and biphasic. [medicaldb.blogspot.com]
Leiomyomatosis peritonealis disseminata associated with ascites and endometriosis: a case report and review of the literature. Acta Chir Belg. 2013;113(5):357–363. 3. Html F, Kalogiannidis I, Amplianitis I, Grammenou S. [dovepress.com]
- Falling
Eine weitere Besonderheit unseres Falls bestand im Nachweis von sonst nur bei gastrointestinalen Stromatumoren zu beobachtenden „skeinoid fibers“. [link.springer.com]
- Pallor
There was no pallor, jaundice, cyanosis, or cold sweating. Her respiratory rate was 20 per minutes, the pulse rate was 90 per minute, the blood pressure was 140/90 mmHg and her body weight was 52 kg. [kjim.org]
Gastrointestinal
- Abdominal Pain
Non-specific symptoms such as abdominal pain, vaginal bleeding, abdominal mass or gastrointestinal signs are described. Rare cases of malignant transformation have been reported. [ncbi.nlm.nih.gov]
Case details: A 65-year-old female patient with a history of abdominal surgery for gastrointestinal stromal tumor presented with abdominal pain, weakness, weight loss, and vomiting. [dovepress.com]
- Pelvic Mass
Preoperative diagnosis is difficult and it should be suspected in the presence of cardiac or pelvic masses in women who have undergone hysterectomy or myomectomy previously. [ncbi.nlm.nih.gov]
Skin
- Papule
Abstract 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. [ncbi.nlm.nih.gov]
Histopathological examination from one of the papules revealed a well-circumscribed, non-encapsulated tumor. [ijdvl.com]
Multiple or single benign cutaneous leiomyomas are common and usually present at around the age of 25 (range from 10-47 years) as firm papules or nodules that are skin colored to light brown. [orpha.net]
Typically multiple pink-to-red dermal papules and nodules with minimal to no surface change are seen ( Figure 1 ). They can be tender, and pain can be exacerbated by cold exposure. [dermatologyadvisor.com]
- Skin Lesion
Skin lesions may not require treatment and many dermatologists do not recommended surgical excision because it can lead to scarring and damage to the skin. Surgical excision is most often used for a solitary, painful lesion. [rarediseases.org]
As the skin lesions are typically painful, it is also often necessary to exclude other painful tumors of the skin (including blue rubber bleb nevus, leiomyoma, eccrine spiradenoma, neuroma, dermatofibroma, angiolipoma, neurilemmoma, endometrioma, glomus [en.wikipedia.org]
The lesions were firm in consistency and tender on palpation. The induration of the background skin was more prominent over the chest and back. General physical and systemic examinations were normal. [ijdvl.com]
The distribution of skin lesions shows approximately equal numbers of patients with clustered leiomyomas only, scattered leiomyomas only, and a combination of clustered and scattered lesions. [intechopen.com]
The proband (III-5) was severely affected, having hundreds of lesions some of which were painful. These were first noticed at 10 years of age in the left arm, in a skin area that had been covered by a plaster. [ncbi.nlm.nih.gov]
Neurologic
- Confusion
The differential diagnosis should also include those conditions often confused with this such as benign metastasizing leiomyomas, intravenous leiomyomatosis of the uterus, parasitic myoma, or diffuse leiomyomatosis of the uterus. [dovepress.com]
Preoperative diagnosis of DPL is almost impossible; DPL can be confused with disseminated intra-abdominal malignancies[ 4 ]. [jmedicalcasereports.biomedcentral.com]
Diagnosis confirmation FCL should not be confused with similar genodermatoses associated with renal cancers such as: - Birt-Hogg-Dubé syndrome (BHD): patients present with cutaneous fibrofolliculomas, trichodiscomas, and achrocordons. [dermatologyadvisor.com]
Oliva E, Young RH, Clement PB, et al : Cellular benign mesenchymal tumors of the uterus: a comparative morphologic and immunohistochemical analysis of 33 highly cellular leiomyomas and six endometrial stromal nodules, two frequently confused tumors. [link.springer.com]
Workup
Imaging workup including trans-esophageal echocardiogram, cardiac catheterization, contrast-enhanced abdomen and pelvic CT scans, and cardiac MRI was performed for evaluation. [ncbi.nlm.nih.gov]
[…] histopathologic features with data from ancillary techniques such as immunohistochemistry and cytogenetics and discussions of the relevant clinical manifestations of gynecological diseases to provide you with the necessary tools to make a comprehensive diagnostic workup [books.google.de]
Clinical Testing and Workup A skin biopsy, which is the surgical removal and microscopic study of a small sample of skin tissue, is necessary in order to confirm the presence of leiomyomas. [rarediseases.org]
X-Ray
- Multiple Pulmonary Nodules
Radiographically, benign metastasizing leiomyoma presents typically as solitary or multiple pulmonary nodules, and on CT these nodules enhance homogeneously (Figs. 7A, 7B, 7C, and 7D). [ajronline.org]
The CXR revealed multiple pulmonary nodules bilaterally of various sizes. Computerized tomography (CT) scan of the chest demonstrated multiple well circumscribed pulmonary masses/nodules in bilateral lung fields, suggesting metastatic disease. [journal.chestnet.org]
- Pleural Mass
View larger version (146K) Fig. 8 —Benign metastasizing leiomyoma in 48-year-old woman who was found to have pleural masses with benign smooth-muscle histology on biopsy. [ajronline.org]
Treatment
Prompt surgical treatment with radical excision of pelvic and intravenous leiomyomatosis guarantees favorable outcomes and excellent prognosis with low rates of recurrence, whereas delayed diagnosis and treatment exposes to increased risk of congestive [ncbi.nlm.nih.gov]
Prognosis
KEYWORDS: Histogenesis; Immunohistochemistry; Prognosis; Uterus; intravenous leiomyomatosis (IVL) [ncbi.nlm.nih.gov]
(Outcomes/Resolutions) In a majority of cases, the prognosis of Diffuse Leiomyomatosis of Uterine Corpus is generally excellent on surgical excision and removal of the tumor, since these are benign tumors The prognosis, in general, depends upon a set [dovemed.com]
Etiology
It is a challenge to clinicians when presenting a miliary pattern in preoperative radiologic imaging because it could be any other interstitial disease or infectious in etiology such as miliary tuberculosis. [ncbi.nlm.nih.gov]
The etiology of these neoplasms is not completely understood. Hysterectomy is the treatment of choice regardless the age of the patient. Uterine artery embolization is nowadays an alternative therapy. [manalclassroom.com]
Differential diagnosis at the time included both malignant and benign etiologies, such as leiomyosarcoma and IV leiomyomatosis. A PET/CT was done to assess malignant potential. [healio.com]
Epidemiology
Summary Epidemiology The prevalence is unknown. Over 200 families with HLRCC have been reported. Clinical description Disease onset can occur at any age, but is more common in young adults and elderly patients. [orpha.net]
Pathophysiology
[…] fumarate hydratase gene, conferring an increased risk of uterine and cutaneous leiomyomata as well as renal cancer The associated renal cell carcinoma is termed HLRCC associated renal cancer Sites Kidney Leiomyomas in uterus and skin in HLRCC syndrome Pathophysiology [pathologyoutlines.com]
PubMed/NCBI 4 Al-Talib A and Tulandi T: Pathophysiology and possible iatrogenic cause of leiomyomatosis peritonealis disseminata. Gynecol Obstet Invest. 69:239–244. 2010. [spandidos-publications.com]
Chinese Medical Journal. 2010; 123(22): 3367-3371 [Pubmed] 4 Pathophysiology and possible iatrogenic cause of leiomyomatosis peritonealis disseminata Al-Talib, A., Tulandi, T. [ijri.org]
Pathophysiology The FH gene mutation causes a decrease in the enzymatic activity of the enzyme. This important enzyme catalyzes the conversion of fumarate to L-malate. [dermatologyadvisor.com]
Pathology and pathophysiology of uterine smooth-muscle tumors. Environ Health Perspect. 2000;108(Suppl 5):779–784. 22. Toledo G, Oliva E. Smooth muscle tumors of the uterus: a practical approach. Arch Pathol Lab Med. 2008;132:595–605. 23. [jcadonline.com]
Prevention
The efficacy of using Gonadotropin releasing hormone agonists to prevent growth or recurrence of tumors in unresected or incompletely resected intravenous leiomyomatosis foci. [ncbi.nlm.nih.gov]
Although the syndrome may manifest life-threatening complications, outcomes may be improved by preventative family screening and surveillance, compelling early diagnosis. [casereports.bmj.com]
Treatment is focussed around the detection and prevention of cancer. Current advice is to have regular imaging of the kidneys. [dermnetnz.org]
Current medical research has not established a way of preventing Diffuse Leiomyomatosis of Uterine Corpus. [dovemed.com]
However, the suture attached to the tumor was held out of the atrium to prevent the tumor from going into the pulmonary artery as an embolus. [atm.amegroups.com]