Mushroom-Like Skin Tumours: Report of Three Cases.
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ABSTRACT:
SUBMITTER: Wollina U
PROVIDER: S-EPMC5535672 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3 were diagnosed at 29, 39, and 47 years old, respectively, and were followed up for 3, 17, and 9 years without no CP recurrence. All cases had apparent symptoms of catecholaminergic excess secreted by PCC. Ganglioneuroma, the neurogenic component present in all three cases, had a percentage representation ranging from 5% to 15%. Tumors were unilateral and large, measuring 7.0 cm × 6.0 cm × 6.0 cm, 6.0 cm × 4.0 cm × 3.2 cm, and 7.5 cm × 6.0 cm × 4.5 cm, respectively. All cases underwent adrenalectomy with no recurrence, metastasis, or development of contralateral tumor during follow-up. Genetic testing has been scarcely offered to CP cases. However, a similar frequency of genetic background is found when compared with classic PCC, mainly by the overrepresentation of NF1 cases in the CP subset. By literature review, we identified a notorious increase in cases reported with CP in the last decade, especially in the last 3 years, indicating a recent improvement in the diagnosis of this rare disorder in clinical practice.
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Project description:Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female.
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Project description:Background Schwannoma is a benign tumor, of which degenerated schwannoma is a subtype. Retroperitoneal schwannomas are extremely rare, as they account for only 3% of retroperitoneal tumors.Degenerated schwannoma is a schwannoma subtype. However,degenerated schwannoma occurring in the adrenal glands is extremely rare. Case summary Case 1: A 42-year-old man was referred to our hospital for further examination of a left adrenal mass that was incidentally discovered during a routine physical check-up.No significant abnormalities were found in laboratory tests results. Robotic-assisted laparoscopic excision of the left adrenal gland was performed under general anesthesia. Case 2: A 47-year-old man was admitted to the hospital because of a left adrenal mass found on a routine physical examination.The patient was previously in good health, and there was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. Case 3: A 62-year-old woman with hypertension and diabetes mellitus was referred to our hospital after an incidentally found left adrenal mass.There was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. None of the patients had a recurrence in our study during the postoperative follow-up. Conclusion Degenerated schwannoma of the adrenal glands is very rare. The clinical presentations of degenerated schwannoma are nonspecific; a small number of patients do not have any symptoms, and the mass is only found incidentally during physical examination for any number of reasons. The preoperative diagnosis of adrenal degenerated schwannoma is difficult because the diagnosis must rely on pathological examination and immunohistochemistry assays. The management is surgical excision and regular follow-up.
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Project description:IntroductionPosttraumatic diaphragmatic rupture (PTDR) is a rare complication of thoracoabdominal injuries. In the emergency phase, it is generally treated via wide laparotomy. The laparoscopic approach is controversial and it is reserved for the chronic type of PTDR. Herein we present three cases of laparoscopic treatment of PTDR, one of which was conducted early after the injury.Presentation of caseThe patients' age was 42, 66 and 53 years and the time from the injury until the operation 1 week, 2 months and 4 years, respectively. Hernia involved the left hemidiaphragm in two patients and the right hemidiaphragm in the second patient. Prolapsing viscera were the omentum/stomach/spleen, the small intestine and the omentum/large bowel, respectively. The PTDR was diagnosed right after the injury of the first patient but its treatment was postponed until the fourth day of hospitalization because of severe respiratory distress due to bilateral pneumothorax, flail chest and extended bilateral lung contusions. All patients underwent laparoscopic operation and correction of the hernia with the use of non-absorbable sutures or endoclips in two patients. There were no serious intra- or postoperative complications and the patients were discharged 30, 5, 6 days after the operation. After a period of 1, 8 and 9 years, respectively the patients remain without clinical evidence of recurrence.DiscussionTrauma is the major cause of acquired diaphragmatic hernias.ConclusionLaparoscopy is an attractive approach for the management of chronic PTDR. Moreover, it may offer the benefits of minimally invasive surgery during the acute phase of injury in highly selected patients.
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Project description:Hepatic carcinosarcoma (HCS) is defined as a tumor that contains cancer from the epithelium and sarcoma from mesenchymal tissue. HCS has a low incidence rate and is composed of osteosarcoma, chondrosarcoma, or angiosarcoma. Though surgery is the main treatment for HCS, it has proven unsatisfactory, resulting in a very poor prognosis of HCS. Currently, the reports on HCS are mainly about the description of clinical pathological phenomena, imaging features, and mutation sites of related genes, the underlying molecular mechanism of HCS remains undefined. Through the dynamic process of epithelial-mesenchymal transition (EMT), cancer cells acquire a mesenchymal phenotype, simultaneously losing epithelial properties. Zinc finger E-box binding homeobox 1 (ZEB1) is an EMT-inducing transcription factor; its main regulatory target is E-cadherin in EMT process. Esophageal carcinosarcoma (ECS) is associated with EMT. The current study showed that EMT might promote the development of ECS and uterine carcinosarcoma (UCS), and ZEB1 was highly expressed in the sarcomatous components. In the current study, three cases were collected, and the clinicopathological features were compared with those of corresponding cases. The expression level, and subcellular localization of ZEB1 were detected using immunohistochemistry. The expression of the ZEB1 in the nucleus was found to be significantly higher in sarcomatous components than that in cancer components in all three cases, suggesting an association of HCS with EMT.
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Project description:BACKGROUND:Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. FINDINGS:Here we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene. CONCLUSIONS:Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.
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Project description:Background:Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk. Objectives:In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins. Methods:We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH). Results:Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal. Conclusion:Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.
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