An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.
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We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial deletion of the long arm of chromosome 5 (del(5)(q22q23.2)). Two other normal family members had the underlying direct insertion of chromosome 5(dir ins(5)(q31.3q22q23.2)). Molecular genetic and fluorescent hybridisation studies have shown that loci D5S37 and D5S98 are outside the deletion whereas loci detected by probes EF5.44 and YN5.48 are lost. As expected, the molecular analyses indicate loss of one allele at the MCC and APC loci. The APC gene is located within band 5q22. Familial direct insertions should be considered as a cause of recurrent microdeletion syndromes. (+info)
A new transpetrosal extreme lateral suboccipital approach was adopted to totally remove an extensive posterior fossa epidermoid cyst in a 36-year-old male. The pathological behavior of intracranial epidermoid cysts may impose surgical problems during removal of the tumor. However, planning based on neuroimaging allows optimum access to tumors and microsurgery achieves safer and more complete removal. (+info)
Thallium-201 accumulation by epidermoid inclusion cyst.
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An elderly male undergoing re-evaluation for coronary artery disease demonstrated an extra-cardiac focus of 201Tl accumulation during the performance of a planar myocardial perfusion scan. This corresponded to a subcutaneous lesion of the left posterior thorax found on a concurrent computerized axial tomographic (CAT) scan and upon surgical excision proved to be an "epidermoid inclusion cyst." A follow-up nuclear scan failed to reveal any residual extracardiac tracer localization. Confusing this lesion with metastatic deposits during 201Tl neoplastic evaluations can be avoided by examination of the adjacent integument. (+info)
MR imaging for evaluation of lesions of the cranial vault: a pictorial essay.
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PURPOSE: A variety of diseases affect the calvaria. They may be identified clinically as palpable masses or incidentally in radiologic examinations. There are many diagnostic possibilities, including congenital, neoplastic, inflammatory and traumatic lesions. The purpose of this study is to illustrate the main calvarial lesions through MR imaging, their signal intensity and extension to neighboring sites. METHOD: A retrospective analysis of 81 cases, from November 1996 to July 2001, was conducted. The examinations were performed on a 1.5 T equipment and each one of the cases was pathologically proven. RESULTS: The results were: dermoid cysts [4 cases (5%)], epidermoid cysts [2 cases (2.5%)], cephalocele [14 cases (17.5%)], sinus pericranii [3 cases (3.7%)], leptomeningeal cysts [4 cases (5%)], Langerhans cell histiocytosis [10 cases (12.5%)], lipoma [4 cases (5%)], fibrous dysplasia [13 cases (16.2%)], osteoma [8 cases (10%)], hemangioma [1 case (1.2%)], meningioma [3 cases (3.7%)], chondrosarcoma [5 cases (6.2%)], hemangiosarcoma [1 case (1.2%)], multiple myeloma [3 cases (3.7%)], sarcomatous transformation of Paget disease [1 case (1.3%)], and metastasis [5 cases (6.2%)]. CONCLUSION: MRI identifies bone marrow abnormalities and invasion of adjacent tissues at an early stage. Therefore, it is an essential method when it commes to properly evaluating calvarial lesions. (+info)
A rare case of bleeding in a cerebellopontine angle epidermoid cyst.
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Epidermoid cysts of the central nervous system are described as rare, benign, slow growing lesions with a history of high rate of recurrence even after surgical removal. This lesion is rarely located at the cerebellopontine angle and is found to be composed of solid and cystic components with close adherence to vital neurovascular structures that might complicate its removal. We present a rare case of a twenty-five year old housewife with signs and symptoms of increased intracranial pressure due to the above pathology after multiple episodes of intra-tumoral bleeding. Microneurosurgical techniques were used for tumour dissection and excision. The patient recovered well after a three-year follow-up. This is the fourth example in the index medicus of bleeding seen in a histopathologically proven cerebellopontine angle intraepidermoid cyst. (+info)
Steatocystoma multiplex.
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A 25-year-old man with a 20-year history of asymptomatic nodules on his arms and trunk, which histopathological analysis showed to be consistent with steatocystoma multiplex, is presented. Steatocystoma multiplex is a disorder characterized by multiple, asymptomatic, dermal cysts that usually occur on the trunk and proximal aspects of the extremities. Steatocystoma multiplex with acral predominance has only recently been described. Development of steatocystomas has been hypothesized to be due to alterations in the structure of keratin 17. Treatment for lesions has included surgical excision or drainage, oral retinoids, and liquid nitrogen cryotherapy. (+info)
Recurrent meningitis associated with complete Currarino triad in an adult--case report.
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A 58-year-old woman presented with Currarino triad manifesting as recurrent meningitis. Currarino triad is a combination of a presacral mass, a congenital sacral bony abnormality, and an anorectal malformation, which is caused by dorsal-ventral patterning defects during embryonic development. She had a history of treatment for anal stenosis in her childhood. Radiographic examinations demonstrated the characteristic findings of Currarino triad and a complicated mass lesion. The diagnosis was recurrent meningitis related to the anterior sacral meningocele. Neck ligation of the meningocele was performed via a posterior transsacral approach after treatment with antibiotics. At surgery, an epidermoid cyst was observed inside the meningocele. The cyst content was aspirated. She suffered no further episodes of meningitis. The meningitis was probably part of the clinical course of Currarino triad. Radiography of the sacrum and magnetic resonance imaging are recommended for patients with meningitis of unknown origin. The early diagnosis and treatment of this condition are important. (+info)
Epidermoid tumor of the pons.
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Epidermoid tumors originating from the brainstem are extremely rare. The authors report a patient with an intraaxial epidermoid tumor of the pons. The tumor involved most of the pons and had a small exophytic component. (+info)