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Orphanet Journal of Rare Diseases May 2014Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree. The phenotype consists of numerous cysts spread... (Review)
Review
Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the liver parenchyma. Cystic bile duct malformations originating from the peripheral biliary tree are called Von Meyenburg complexes (VMC). In these patients embryonic remnants develop into small hepatic cysts and usually remain silent during life. Symptomatic PLD occurs mainly in the context of isolated polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD). In advanced stages, PCLD and ADPKD patients have massively enlarged livers which cause a spectrum of clinical features and complications. Major complaints include abdominal pain, abdominal distension and atypical symptoms because of voluminous cysts resulting in compression of adjacent tissue or failure of the affected organ. Renal failure due to polycystic kidneys and non-renal extra-hepatic features are common in ADPKD in contrast to VMC and PCLD. In general, liver function remains prolonged preserved in PLD. Ultrasonography is the first instrument to assess liver phenotype. Indeed, PCLD and ADPKD diagnostic criteria rely on detection of hepatorenal cystogenesis, and secondly a positive family history compatible with an autosomal dominant inheritance pattern. Ambiguous imaging or screening may be assisted by genetic counseling and molecular diagnostics. Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. Genetic studies showed that accumulation of somatic hits in cyst epithelium determine the rate-limiting step for cyst formation. Management of adult PLD is based on liver phenotype, severity of clinical features and quality of life. Conservative treatment is recommended for the majority of PLD patients. The primary aim is to halt cyst growth to allow abdominal decompression and ameliorate symptoms. Invasive procedures are required in a selective patient group with advanced PCLD, ADPKD or liver failure. Pharmacological therapy by somatostatin analogues lead to beneficial outcome of PLD in terms of symptom relief and liver volume reduction.
Topics: Cysts; Humans; Liver Diseases
PubMed: 24886261
DOI: 10.1186/1750-1172-9-69 -
Rhode Island Medical Journal (2013) Feb 2022Malignant proliferating trichilemmal tumors (MPTTs, malignant proliferating pilar tumors) are theorized to originate from the outer root sheath of the hair follicle... (Review)
Review
Malignant proliferating trichilemmal tumors (MPTTs, malignant proliferating pilar tumors) are theorized to originate from the outer root sheath of the hair follicle which resembles the isthmic portion of the hair follicle and epithelium of the lower hair follicle in catagen phase.1 They may develop de novo or arise from a pre- existing trichilemmal cyst or proliferating trichilemmal tumor. The tumors typically present with rapid growth on the scalps of women over the age of 50. In this review, we present two cases of MPTT, presenting on the scalp of a 69-year-old woman and the scalp of a 53-year-old woman. Both tumors were successfully treated with surgery and radiation. In addition to the classic histologic features, pilomatrical differentiation was also seen in case 1, a histologic feature that has rarely been described. In this paper, we review previously reported cases and summarize basic demographics, lesion size, location, treatment method, and patient outcome.
Topics: Aged; Epidermal Cyst; Female; Hair Diseases; Hair Follicle; Humans; Middle Aged; Scalp; Skin Neoplasms
PubMed: 35081182
DOI: No ID Found -
Joint Diseases and Related Surgery 2020This study aims to evaluate the distribution and prevalence of pediatric hand tumors and tumor-like lesions according to age and gender.
OBJECTIVES
This study aims to evaluate the distribution and prevalence of pediatric hand tumors and tumor-like lesions according to age and gender.
PATIENTS AND METHODS
We retrospectively examined the details of hospital records of 646 patients who were operated for hand mass between January 2009 and January 2019 and whose pathological diagnosis was established in the same hospital. A total of 54 patients (18 males, 36 females; mean age 12.07 years; range, 3 month to 17 years) under 18 years of age who had been operated for the wrist or hand mass were included in the study.
RESULTS
Out of 54 tumors, 53 were benign (98%) and one was malignant (2%). There were 42 soft tissue tumors (78%) and 12 bone tumors (22%). The most common soft tissue mass was ganglion cyst (n=12). Six out of 12 ganglion cysts were on the dorsal side of hand or wrist and six were on the volar side. The distribution of the tumors according to gender was not statistically significant (p=0.73). We had two recurrences: one patient with giant cell tumor of the tendon sheath and one with palmar fibromatosis.
CONCLUSION
Pediatric hand/wrist masses are mostly benign tumorous conditions. The location of the pathologies may be different from the adults. Diagnosis of the tumor should be established carefully clinically and radiologically while malignant tumors should be kept in mind by both pediatricians and orthopedic surgeons.
Topics: Age Factors; Bone Neoplasms; Child; Female; Ganglion Cysts; Hand; Humans; Male; Orthopedic Procedures; Outcome and Process Assessment, Health Care; Radiography; Retrospective Studies; Sex Factors; Soft Tissue Neoplasms; Wrist
PubMed: 32584735
DOI: 10.5606/ehc.2020.74972 -
Genetics in Medicine : Official Journal... Jan 2010Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas,... (Review)
Review
Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with neurofibromatosis 1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. The diagnosis of neurofibromatosis 1 is usually based on clinical findings. Neurofibromatosis 1, one of the most common Mendelian disorders, is caused by heterozygous mutations of the NF1 gene. Almost one half of all affected individuals have de novo mutations. Molecular genetic testing is available clinically but is infrequently needed for diagnosis. Disease management includes referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, spine, or long bones. Surgery to remove both benign and malignant tumors or to correct skeletal manifestations is sometimes warranted. Annual physical examination by a physician familiar with the disorder is recommended. Other recommendations include ophthalmologic examinations annually in children and less frequently in adults, regular developmental assessment in children, regular blood pressure monitoring, and magnetic resonance imaging for follow-up of clinically suspected intracranial and other internal tumors.
Topics: Adolescent; Bone and Bones; Brain Neoplasms; Child; Child, Preschool; Eye Diseases; Genes, Neurofibromatosis 1; Headache; Humans; Intelligence; Learning Disabilities; Neurofibromatosis 1
PubMed: 20027112
DOI: 10.1097/GIM.0b013e3181bf15e3 -
Acta Neuropathologica Mar 2012Peripheral nerve sheath tumors are common neoplasms, with classic identifiable features, but on occasion, they are diagnostically challenging. Although well-defined... (Review)
Review
Peripheral nerve sheath tumors are common neoplasms, with classic identifiable features, but on occasion, they are diagnostically challenging. Although well-defined subtypes of peripheral nerve sheath tumors were described early in the history of surgical pathology, controversies regarding the classification and grading of these tumors persist. Advances in molecular biology have provided new insights into the nature of the various peripheral nerve sheath tumors, and have begun to suggest novel targeted therapeutic approaches. In this review, we discuss current concepts and problematic areas in the pathology of peripheral nerve sheath tumors. Diagnostic criteria and differential diagnosis for the major categories of nerve sheath tumors are proposed, including neurofibroma, schwannoma, and perineurioma. Diagnostically challenging variants, including plexiform, cellular and melanotic schwannomas are highlighted. A subset of these affects the childhood population, and has historically been interpreted as malignant, although current evidence and outcome data suggest they represent benign entities. The growing current literature and the author's experience with difficult to classify borderline or "hybrid tumors" are discussed and illustrated. Some of these classification gray zones occur with frequency in the gastrointestinal tract, an anatomical compartment that must always be entertained when examining these neoplasms. Other growing recent areas of interest include the heterogeneous group of pseudoneoplastic lesions involving peripheral nerve composed of mature adipose tissue and/or skeletal muscle, such as the enigmatic neuromuscular choristoma. Malignant peripheral nerve sheath tumors (MPNST) represent a diagnostically controversial group; difficulties in grading and guidelines to separate "atypical neurofibroma" from MPNST are provided. There is an increasing literature of MPNST mimics which neuropathologists must be aware of, including synovial sarcoma and ossifying fibromyxoid tumor. Finally, we discuss entities that are lacking from the section on cranial and paraspinal nerves in the current WHO classification, and that may warrant inclusion in future classifications. In summary, although the diagnosis and classification of most conventional peripheral nerve sheath tumors are relatively straightforward for the experienced observer, yet borderline and difficult-to-classify neoplasms continue to be problematic. In the current review, we attempt to provide some useful guidelines for the surgical neuropathologist to help navigate these persistent, challenging problems.
Topics: Diagnosis, Differential; Humans; Nerve Sheath Neoplasms; Neurilemmoma; Neurofibroma; Oligodendroglia; Peripheral Nervous System Neoplasms
PubMed: 22327363
DOI: 10.1007/s00401-012-0954-z -
American Family Physician Jul 2003Bartholin's duct cysts and gland abscesses are common problems in women of reproductive age. Bartholin's glands are located bilaterally at the posterior introitus and... (Review)
Review
Bartholin's duct cysts and gland abscesses are common problems in women of reproductive age. Bartholin's glands are located bilaterally at the posterior introitus and drain through ducts that empty into the vestibule at approximately the 4 o'clock and 8 o'clock positions. These normally pea-sized glands are palpable only if the duct becomes cystic or a gland abscess develops. The differential diagnosis includes cystic and solid lesions of the vulva, such as epidermal inclusion cyst, Skene's duct cyst, hidradenoma papilliferum, and lipoma. The goal of management is to preserve the gland and its function if possible. Office-based procedures include insertion of a Word catheter for a duct cyst or gland abscess, and marsupialization of a cyst; marsupialization should not be used to treat a gland abscess. Broad-spectrum antibiotic therapy is warranted only when cellulitis is present. Excisional biopsy is reserved for use in ruling out adenocarcinoma in menopausal or perimenopausal women with an irregular, nodular Bartholin's gland mass.
Topics: Abscess; Bartholin's Glands; Catheterization; Cysts; Drainage; Female; Humans; Vulvar Diseases
PubMed: 12887119
DOI: No ID Found -
Journal de Gynecologie, Obstetrique Et... Dec 2013Most tumors of the ovary presumed benign according to clinical, biological and imaging data are cysts. A cyst is a newly formed cavity lined by epithelium. It tends to... (Review)
Review
Most tumors of the ovary presumed benign according to clinical, biological and imaging data are cysts. A cyst is a newly formed cavity lined by epithelium. It tends to enlarge, and can undergo torsion, rupture and haemorrhage. Most prevalent cystic lesions, i.e. inclusion cysts, serous or mucinous cystadenomas, endometriotic cysts, mature teratoma and other cysts are described. Diagnostic methods of cytology and pathology are described and evaluated: intraoperative examination of cystic and peritoneal fluids are not recommended; intraoperative consultation can be performed on solid parts or implants, if the pathologist is familiar with these lesions, or if primary carcinoma is known. The value of intraoperative examination is good in benign and cancer cases, but unsatisfactory in borderline lesions, especially of mucinous type. Cryopreservation of ovarian tissue can be performed to preserve tumoral and normal tissue in Biobank for research protocol, or to maintain fertility through follicle preservation, in aseptic conditions. Transfer of samples towards the pathology laboratory can be performed either and preferably in fresh state, or in vacuum sealed bags at +4°C allowing a 2-day delay, or after immersion in a 15 × volume of 4% formalin. Cytological samples must be collected on citrate and sent immediately to the pathology laboratory, or fixed volume/volume in of absolute alcohol. The pathologist and the surgeon must collaborate to obtain good practice: intact labelled sample, accompanied by clinical information, transfer according to best local conditions, judicious use of intraoperative examination, knowing its possibilities and limitations, no excess delay of pathology report, even in difficult cases requiring expert opinion.
Topics: Biological Specimen Banks; Cryopreservation; Cystadenoma; Cytodiagnosis; Disease Progression; Female; Humans; Ovarian Cysts; Ovarian Neoplasms; Specimen Handling; Teratoma
PubMed: 24200072
DOI: 10.1016/j.jgyn.2013.09.026 -
Orthopaedic Surgery Aug 2022To describe an arthroscopic technique for giant meniscal cyst excision with preservation of the functional meniscus, report the short- and medium-term outcomes, and...
OBJECTIVE
To describe an arthroscopic technique for giant meniscal cyst excision with preservation of the functional meniscus, report the short- and medium-term outcomes, and assess magnetic resonance imaging (MRI) for follow-up imaging evaluations.
METHODS
A total of 54 consecutive patients with symptomatic meniscal cysts were admitted to the Second Xiangya Hospital of Central South University between 2014 and 2019. Nine patients with giant meniscus cysts (six females and three males) were included in this study. The age range of the patients was 6-34 years. All patients underwent a complete physical examination, X-ray, Doppler ultrasound, and MRI of the knee preoperatively. After an arthroscopic diagnosis of a meniscal rupture with a giant meniscal cyst, partial meniscectomy, ablation of the cyst, and suturing of the retainable meniscus were performed. Lysholm and International Knee Documentation Committee (IKDC) scores were used preoperatively and at the most recent follow-up. Clinical outcomes were classified into four categories: excellent, good, fair, and poor. During the last visit, all patients underwent MRI to assess the recurrence of the cyst and meniscal suture healing.
RESULTS
Preoperative MRI and arthroscopic examination revealed giant meniscal cysts combined with meniscal tears and congenital discoid meniscus, and all giant meniscal cysts occurred in the lateral meniscus. The main types of meniscal tears were horizontal and complex tears. The cysts were unicystic in one case and multicystic in eight cases. The mean size of the cysts on the MRI was 5.86 cm × 2.24 cm × 2.48 cm. The mean follow-up periods were 37.5 (19-60) months. Clinical outcomes were excellent in six patients and good in three patients. The postoperative scores were significantly improved compared to the preoperative scores (Lysholm: 90.78 ± 4.60 vs. 54.56 ± 7.25; IKDC: 96.2 ± 3.46 vs. 61.69 ± 3.36; p <0.01). No recurrence of the cyst was indicated on the MRI, and there was good healing of the torn meniscus.
CONCLUSIONS
Arthroscopic cystectomy combined with the meniscus suture technique was effective to eradicate residual cyst cavities, and traffic orifices be highly recommended.
Topics: Adolescent; Adult; Arthroscopy; Child; Cysts; Female; Follow-Up Studies; Humans; Knee Injuries; Magnetic Resonance Imaging; Male; Menisci, Tibial; Retrospective Studies; Tibial Meniscus Injuries; Young Adult
PubMed: 35818343
DOI: 10.1111/os.13374 -
Medicine Jul 2018Rhabdomyosarcoma (RMS), a malignant tumor with striated muscle differentiation, is the most common type of soft-tissue sarcoma in children and adolescents, but rarely... (Review)
Review
RATIONALE
Rhabdomyosarcoma (RMS), a malignant tumor with striated muscle differentiation, is the most common type of soft-tissue sarcoma in children and adolescents, but rarely occurs in adults, and especially in human livers. Moreover, this disease has a very poor prognosis. Here we report a case of primary RMS of the liver in a 66-year-old woman. This case is rare with respect to the location and clinical course of the tumor. The tumor had enlarged rapidly, ruptured, and eventually caused the patient's death after a long history of a stable abdominal mass that indicated a hepatic cyst.
PATIENT CONCERNS
Before admission, a patient with a 5-year history of an abdominal mass was admitted to another hospital with symptoms of aggravated epigastric pain for the past 10 days. She was diagnosed with a hepatic cyst that had ruptured and hemorrhaged and was infected. This initial diagnosis was based on operative and pathologic findings.
DIAGNOSES
Pleomorphic RMS of the liver with a hepatic cyst was diagnosed and confirmed by imaging, surgery, and histopathological evaluation.
INTERVENTIONS
Following admission, an emergency laparotomy was performed to treat the intra-abdominal hemorrhaging while further examinations were performed. Post-surgical histopathological evaluation found pleomorphic RMS tissue in the large mass that occupied the right lobe of the liver. No adjuvant chemotherapy was administered.
OUTCOMES
The patient died from malnutrition and multiple organ failure 141 days after her initial admission.
LESSONS
Rhabdomyosarcomas in the liver are highly malignant tumors; therefore, early diagnosis and timely surgical resection are necessary to improve a patient's prognosis. We recommend that greater attention should be paid to a differential diagnosis of RMS for patients with hepatic masses that have ruptured. Moreover, preoperative imaging studies and percutaneous biopsy would be helpful for making a more specific diagnosis, and adjuvant chemotherapy should be administered for further treatment and for the purposes of future research.
Topics: Adult; Aged; Cysts; Diagnosis, Differential; Fatal Outcome; Female; Humans; Laparotomy; Liver; Liver Neoplasms; Rhabdomyosarcoma; Tomography, X-Ray Computed
PubMed: 30024506
DOI: 10.1097/MD.0000000000011335 -
The Indian Medical Gazette Jan 1946
Topics: Cysts; Humans; Mediastinal Cyst; Pleura; Pleural Effusion; Pleurisy
PubMed: 21025564
DOI: No ID Found