Adrenal adenomas in a patient with Gardner's syndrome

Gardner's syndrome is an autosomal dominant condition characterized by multiple colorectal polyposis, associated with various soft- and hard-tissue tumors. The occurrence of adrenal adenomas in patients with the syndrome has not been fully appreciated. The following is a report of a member of the original Utah kindred #109, first described in the early 1950's, who was found at autopsy to have bilateral adrenal adenomas. A review of the literature resulted in the identification of six cases with adrenal adenomas and one with a primary adrenal carcinoma. The association with the syndrome of these adrenal tumors, as well as other endocrine tumors, especially thyroid tumors, is discussed.     

Unicryptal gallbladder adenomas in a patient with Gardner's syndrome

Gardner's syndrome occurs when mutation of the adenomatous polyposis coli gene is associated with extra-intestinal manifestations in addition to colorectal adenomas. Only eleven cases of gallbladder adenoma in Gardner's syndrome have been previously reported in the literature. We report a case of Gardner's syndrome in which multiple adenomas are associated with unicryptal adenomas.     

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype-phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.     

3D打印技术在颌骨肿瘤与肿瘤样变临床教学中的应用

目的探讨3D打印技术应用于颌骨肿瘤与肿瘤样变临床教学中的效果。方法将参与颌骨肿瘤与肿瘤样变课程的92名学生随机分成2组进行对比教学。第一组先进行以知识点讲解、病例分析及锥形束CT检查等为主的传统教学,再进行3D打印技术辅助的新方法教学;第二组先行3D打印技术辅助的新方法教学,再进行传统教学。分别对两组学生两学时后的教学情况进行问卷调查及对比,评估3D打印技术辅助的教学新方法对颌骨肿瘤与肿瘤样变临床教学的相关作用。结果传统教学方法对于颌骨肿瘤与肿瘤样变基础解剖知识点的掌握更有优势(P<0.05);对于肿瘤细节、知识记忆、肿瘤空间形态、教学生动性等方面,3D打印技术辅助的教学新方法更有优势(P<0.05)。教学顺序对最终学习效果影响较小,但牵涉到知识记忆和空间形态的理解方面,让学生先行3D打印技术辅助教学的新课程再行传统课程得分更高(P<0.05)。结论先进行3D打印技术辅助的教学新方法在一定程度上更有利于让学生从三维空间上去理解和掌握肿瘤与肿瘤样变的特点。     

Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome

We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. Of 41 patients with documented Gardner's syndrome, 37 (90.2 percent) had such lesions. The lesions were bilateral in 32 of the patients (78.1 percent) and in 2 of 42 controls (4.8 percent). Twenty (46.5 percent) of 43 first-degree relatives at 50 percent risk for Gardner's syndrome had bilateral pigmented fundus lesions, indicating that they had probably inherited the abnormal gene. The presence of bilateral lesions, multiple lesions (more than four), or both appeared to be a specific (specificity, 0.952) and sensitive (sensitivity, 0.780) clinical marker for Gardner's syndrome. The lesions are probably congenital; they were observed in a three-month-old baby at risk. The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retinal pigment epithelial cells.     

Course of cerebral lesions in a patient with periarteritis nodosa studied by magnetic resonance imaging

Summary The course is reported of a patient with periarteritis nodosa who initially presented with neurological symptoms. Multiple cerebral lesions were documented by the first magnetic resonance imaging (MRI) investigation. The majority of these had disappeared completely in the follow-up MRI studies. In contrast to neurological improvement the patient eventually died due to multiorgan failure. Postmortem histological examination revealed no pathological findings in the brain except one single necrotic area already known from MRI. Remissions of histological and angiographic alterations in periarteritis nodosa have been described as local healing leading to fibrosis and scarring. Our findings suggest that restitutio ad integrum may occur, at least in cerebral lesions.Abbreviations PAN panarteritis nodosa - MRI magnetic resonance imaging - CT computerized tomography - CNS central nervous system     

Disseminated cryptococcosis in a patient with nephrotic syndrome

Disseminated cryptococcosis mainly occurs in patients with impaired cell mediated immunity. We present a case of disseminated cryptococcosis in a non-HIV patient with nephrotic syndrome who never received immunosuppression. Cultures of bone marrow aspirate, cerebrospinal fluid analysis and histology of skin lesions were all consistent with Cryptococcus neoformans infection. Treatment with amphotericin B followed by fluconazole was successful and in the course of two months when, the skin nodules disappeared.     

Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial deformities and heterogeneous cardiac and cutaneous manifestations. The condition is caused by de novo activating mutations in one of four genes encoding proteins involved in the RAS-MAPK signaling pathway; specifically BRAF, MEK1, MEK2, or KRAS. Variable malignancies have been reported in patients with CFCS. Herein we report a chondroblastoma-like lesion of the skull in a 20-year-old man with a clinical diagnosis of CFCS and a long-standing history of medically intractable epilepsy. Patients with CFCS have previously been noted to have poorly-defined giant cell lesions and this may be one such example.     

Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome

Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported. © 1995 Wiley-Liss, Inc.     

Follow-up study in a patient with Setleis syndrome

We report on an 8-year-old Japanese boy with Setleis syndrome. The patient had a very characteristic “coarse” facial appearance, bitemporal “forceps marks,” skin aplasia, sparse hair, and skin hypo- and hy-perpigmentation. He also had previously undescribed manifestations, including an aberrant hair pattern of the forehead, linear skin lesions on the forehead, short palpebral fissures, a small skin tag on the right cheek, cone-shaped teeth, and pectus carinatum. Dermatoglyphic studies documented aberrant distal palmar creases (simian crease variant), 8 arches, and reduced total finger ridge count. When serial photographs were reviewed, his facial characteristics became more obvious with increasing age. © 1995 Wiley-Liss, Inc.     

Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21

The Antley-Bixler syndrome (ABS) is characterized by craniofacial, skeletal and urogenital anomalies. While most patients with ABS die of severe respiratory complications in their first months, long-term survivors have been reported. We report an infant girl, born to a consanguineous couple, with craniofacial and skeletal anomalies, consistent with ABS, in addition to atresia of the esophagus and trisomy 21.     

Platelet dysfunction in a patient with the Opitz (BBBG) syndrome

An 11-year-old girl with Opitz (BBBG) syndrome presented with a bleeding disorder. Studies showed an immune-mediated qualitative platelet dysfunction in the absence of thrombocytopenia. This is the first report of hemostatic dysfunction in a patient with the Opitz (BBBG) syndrome. This report considers the possible relationship of the platelet dysfunction to the Opitz (BBBG) syndrome and its treatment. © 1992 Wiley-Liss, Inc.     

Genetic alterations in a patient with Turcot's syndrome

Turcot's syndrome (TS) Is a rare disorder associated with the development of both brain and colon neoplasms. Because of the very low incidence of the disease, its molecular basis remains unclear. Presented is a TS case of a 30-year-old Japanese male with a histopathologically confirmed diagnosis of both brain tumor (glioblastoma multiforme) and colon tumor (well-differentiated adenocar-clnoma). Germline mutations of the p53 gene, somatic mutations of the Ki-ras, p53and APC genes, and microsatel-lite Instability (MSI) was examined using polymerase chain reaction (PCR)-slngle strand conformation polymorphism analysis, followed by PCR-dlrect sequencing, and sequencing after subclonlng. No germline mutations of the p53 gene were found. Somatic mutations of Kl-ras and APC genes were found in the colon adenocarcinoma but not in the brain tumor. No somatic mutation of the pS3 gene was present in either colon or brain tumors. Microsatellite Instability of both colon and brain tumors was positive in two of four loci. These results indicate that the colon tumor of the TS patient carries the Kl-ras and APC gene mutations. The finding of MSI in both the brain and the colon tumors may support the hypothesis that alterations of DNA repair genes are involved in the tumor development of the TS patient.     

Novel findings in a patient with Weaver or a Weaver-like syndrome

We report on a young male patient with an overgrowth syndrome, who had normal birth weight. He had a number of manifestations typical of the Weaver syndrome (WS), such as advanced bone age, peculiar craniofacial appearance, and camptodactyly. He also showed severe mental and speech retardation and demineralisation of the bones of the hands and feet. The latter can be considered as unreported manifestations of WS, or the patient could represent an example of a new WS-like syndrome. © 1996 Wiley-Liss, Inc.     

Glomerular lesions associated with the Crow-Fukase syndrome

Summary Three cases of the Crow-Fukase syndrome without radiographic changes of multiple myeloma are reported, with special reference to the glomerular changes seen. Proteinuria was detected in one case, although decreased renal function was observed in all (GFR: 41.0, 62.0, 74.1 ml/min respectively) at the time of renal biopsy. Glomerular changes were similar in all three cases. The main characteristic changes were mesangial proliferation and thickening of the glomerular capillary walls. Pictures by light microscopy were therefore similar to that of MPGN. On electron microscopy, the thickened capillary walls showed circumferential mesangial interposition and the subendothelial zone was electron-lucent and contained small dense granules or flocculent deposits. By immunofluorescent microscopy, no immunoglobulins, complement components or light chain were detected in the glomeruli except in one case.     

Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome

This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndrome, presenting with contralateral hand and ipsilateral foot anomalies.     

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

We report on an 18-month-old boy with an interstitial deletion at 10q23.2-q24.1. This region includes the PTEN gene, mutations of which have been reported to cause Cowden disease. Our patient presented with manifestations of Bannayan-Riley-Ruvalcaba (BRR) syndrome. The BRR syndrome is a rare disorder which presents most commonly in childhood. Cowden disease is a disease of adulthood and is inadequately described in children. Because of the considerable phenotypic overlap between the two disorders, and the cytogenetic and molecular findings in our patients, we suggest that BRR syndrome and Cowden disease are allelic. Am. J. Med. Genet. 71:489–493, 1997. © 1997 Wiley-Liss, Inc.     

A patient with Schinzel-Giedion syndrome and a review of 20 patients

Summary The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardian and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.