1/301. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/301. Localized soft tissue angiomatosis with subsequent development of angiolymphoid hyperplasia with eosinophilia.We report an unusual case of arteriovenous (AV) malformation (localized form of soft tissue angiomatosis): a reaction of angiolymphoid hyperplasia with eosinophilia (ALHE) developed over the lesion of this pre-existing AV malformation. To the best of our knowledge, there is no other report of ALHE in association with a pre-existing bona fide AV malformation. A 71-year-old woman consulted our clinic because a reddish, dome-shaped tumor on her preauricular region, present as a slightly elevated, skin-colored tumor since her childhood, had rapidly enlarged and become more elevated with color change during the preceding two months. The histological features of most of the lesion corresponded to those of soft tissue angiomatosis (localized form). The proliferative vessels underlying the soft tissue angiomatosis streamed out and welled into the dermis with an accompanying prominent inflammatory infiltrate composed of lymphoid cells and eosinophils: these histological features were characteristic of ALHE. The recent abrupt clinical changes in the tumor were considered to represent a reaction to the angiomatosis with development of ALHE.- - - - - - - - - - ranking = 161.79293466192keywords = malformation (Clic here for more details about this article) |
3/301. Complex right hemisphere developmental venous anomaly associated with multiple facial hemangiomas. Case report.Complex developmental venous anomalies (DVAs) represent variations of normal cerebral venous drainage and consist of dilation of the superficial and/or deep venous system. These rare anomalies can occur unilaterally or bilaterally, supratentorially or infratentorially, focally or they can affect the entire hemisphere. Some DVAs are associated with cervicofacial venous malformations or facial lymphatic malformations. Anomalies of this type are generally clinically silent, and cerebral dysfunction is usually absent. Symptoms, when they occur, are most commonly headache or mild seizure disorders. The angiographic findings are striking, with well-formed but enlarged transcerebral medullary and deep and/or superficial cortical veins. Opacification of these venous structures occurs within the same time frame as a normal angiographic venous phase. The authors report the case of a 33-year-old man in whom a large inoperable arteriovenous malformation had been previously diagnosed and who presented with seizures. Repeated magnetic resonance imaging and angiography demonstrated abnormally dilated transcerebral, superficial, and deep venous structures involving the entire right hemisphere with no identifiable nidus. Additionally, multiple bilateral benign facial hemangiomas were present in this patient. It is important to recognize this rare venous appearance as a developmental variant and not mistake it for an arteriovenous malformation or a partially thrombosed vein of Galen malformation. Because these venous anomalies are extreme variants of the normal venous system, hemorrhage rarely, if ever, occurs and the patient can be reassured that no interventional or surgical therapy is necessary or warranted.- - - - - - - - - - ranking = 269.6548911032keywords = malformation (Clic here for more details about this article) |
4/301. Targetoid hemosiderotic hemangioma- a dynamic vascular tumor: report of 3 cases with episodic and cyclic changes and comparison with solitary angiokeratomas.BACKGROUND: Both targetoid hemosiderotic hemangiomas (THH) and solitary angiokeratomas (SAK) are acquired vascular malformations formed by superficial vascular ectasias possibly caused by trauma. OBJECTIVE: We compare the clinicopathologic findings of THHs with those of SAKs and report the clinicopathologic findings of 3 singular cases of THH affected by cyclic or episodic morphologic changes. methods: We performed a clinicopathologic study on 33 cases of THH and compared this group with 20 cases of SAK. On selected cases, histochemical and immunohistochemical analyses were evaluated. RESULTS: Overlap of all the clinical and pathologic features studied were identified for THH and SAK. Clinically, they both commonly exhibited a brown or black papule located over the lower extremities that mimicked a melanocytic lesion. Histologically, they both had ectatic papillary dermal vessels with overlying epidermal hyperplasia, and adjacent hemosiderin deposits, extravasated red blood cells, lymphocytic infiltrate, and lymphangiectases. Compared with SAKs, THHs were significantly larger (5.3 vs 3.2 mm), more often excised (elliptical excision) than shave or punch biopsied, and had deeper dermal vessel alterations, more frequent dissecting vascular spaces, and more extensive hemosiderin deposits (all P < .01). THHs presenting with episodic changes were significantly larger than those without (11 vs 4.4 mm, P =.001). CONCLUSION: THHs and SAKs differ in degree, not in type, of clinicopathologic characteristics. This finding suggests that THHs are larger variants of SAKs whose size is the cause of more extensive, prolonged, or recurrent vessel damage. The histologic findings of extravasated red blood cells, hemosiderin, telangiectases, lymphangiectases, and fibrosis implicate trauma in the cause of these acquired vascular malformations.- - - - - - - - - - ranking = 107.86195644128keywords = malformation (Clic here for more details about this article) |
5/301. Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?Two patients presented as full-term baby girls with anorectal and genital malformations with extensive perineal hemangiomas. The first patient had a vestibular anus with a perineal hemangioma involving the bladder, rectal, and vaginal walls. skin ulcerations required a transverse loop colostomy for wound care. The vulva, urethral opening, and clitoris were deviated to the left, labia minora were absent, and the labia majora were abnormal. The second patient had an anus displaced anteriorly and deviated to the right. The external anal sphincter was hypertrophic on the left and atrophic on the right. Rectal examination showed agenesis of the right levator ani and a dentate line located at the skin level. She had a large perineal, sacral, vaginal, pararectal and retroperitoneal hemangioma and developed extensive skin ulcerations. She had only a hemiclitoris located to the left of the midline, near absence of labia minora, and hypertrophied labia majora. The urethra was displaced to the left and opened in the vestibule. Both patients had a spinal malformation (one with tethered cord and one with spina bifida) and a normal karyotype. steroids and interferon allowed near-complete resolution of hemangiomas in both patients. The authors were impressed by the similarity of these two cases and could not find any previous description of this association.- - - - - - - - - - ranking = 323.58586932384keywords = malformation (Clic here for more details about this article) |
6/301. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
7/301. Haemangiomatous malformation of the orbito-sphenoidal region: cure by radiotherapy.This case was previously reported in 1973 at the 46th annual general scientific meeting of this College. Following a suggestion made at the meeting the patient was referred for radiotherapy, with a result so satisfactory as to call for a restatement of the case.- - - - - - - - - - ranking = 215.72391288256keywords = malformation (Clic here for more details about this article) |
8/301. Diagnostics and surgical treatment strategy for rectal cavernous hemangiomas based on three case examples.A 20-year-old man with a congenital vascular malformation extending from the anal canal into the distal sigmoid had had recurrent perianal blood loss as a neonate. A hemangioma was diagnosed for the first time in 1978. The patient received regular and frequent gastroenterological treatment until admission. Decisive for the indication for surgery was the patient's need for blood infusions and shorter bleeding intervals in June 1998. Surgical therapy consisted of deep anterior rectosigmoid resection with coloanal pouch anastomosis. In a second case of a 27-year-old woman a sigmoid hemangioma was diagnosed in conjunction with emergency sigmoid resectioning. Because of recurrent hemorrhages a coloanal pouch was also established here in a second step. The third case involved a 19-year-old woman with a 12-year history of repeated perianal hemorrhages. After sigmoid discontinuity resection we carried out proctectomy with descendostoma creation due to renewed severe intractable perianal bleeding. The histological examination revealed a rectal hemangioma that had caused the repeated perianal hemorrhages. Surgical reconstruction was then achieved by coloanal pouch anastomosis. In view of the good functional and perioperative results, current surgical therapy should aim at preserving continuity and continence by coloanal pouch anastomosis.- - - - - - - - - - ranking = 53.930978220641keywords = malformation (Clic here for more details about this article) |
9/301. Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphe, and hemangiomatosis: report and review.We report on a child with giant congenital aortic aneurysm, sternal defect, hemangiomas of face, supraumbilical raphe, and review the only two other cases reported to date. Congenital aortic aneurysm is an ominous malformation that has to be systematically searched in children with the sternal malformation/vascular dysplasia complex.- - - - - - - - - - ranking = 107.86195644128keywords = malformation (Clic here for more details about this article) |
10/301. Bacillary angiomatosis affecting the oral cavity. Report of two cases and review.Bacillary angiomatosis (BA) is an infectious disease characterized by proliferative vascular lesions; it mainly affects hiv-positive patients. Multiple cutaneous nodular lesions together with fever, chills, malaise, anorexia, vomiting and headache are the most important clinical manifestations. It may also involve the heart, liver, spleen, bones, lung, muscles, lymph nodes, central nervous system and other organs. erythromycin, 500 mg four times a day, is the drug of choice. The importance of this lesion lies in its clinical and histological similarity with other diseases. Cutaneous and oral lesions of BA clinically resemble Kaposi's sarcoma (KS). Histopathologically, BA may be confused with angiosarcoma, pyogenic granuloma and epithelioid hemangioma. We report two hiv-positive men with BA lesions in the oral mucosa. diagnosis was confirmed by biopsy and Warthin-Starry silver staining.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
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