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PubMed1977

Recurrent aphthous stomatitis: clinical characteristics and evidence for an immunopathogenesis.

Recurrent aphthous stomatitis is one of the most common diseases affecting the oral mucosa, and one of its variants is the most painful affliction of the oral mucosa. The lesions of recurrent aphthous stomatitis can be manifested as part of a broad spectrum of clinical disease ranging from the common minor aphthous ulcers to Behçet's syndrome. Differential diagnosis, although not often difficult, must include many conditions capable of producing erosive and ulcerative oral mucosal lesions. The salient features of recurrent aphthous stomatitis suggest that it is a heterogeneous entity. Recent immunologic investigations have focused attention on a possible immunopathogenesis and the evidence for this is reviewed.

Behcet Syndrome↗
PubMed2026

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

De novo mutations (DNMs) in the paternal germline are a major cause of developmental disorders, but how mutation timing, paternal age, and spermatogonial selection jointly shape transmissible risk within individual fathers is unclear. We combined trio whole-genome sequencing from 167 families with deep targeted NanoSeq profiling of sperm from 127 fathers of children with confirmed pathogenic DNMs. Transmitted DNM burden and paternal sperm mutation burden, spectra, and selection landscape were indistinguishable from population reference cohorts. Six fathers carried pathogenic early mosaic variants detectable in sperm at variant allele fractions (VAFs) of 0.7%-14.8%, creating individual recurrence-risk outliers. However, early mosaics accounted for ∼8% of the cohort-aggregated pathogenic burden exome-wide, compared with ∼18% from known positively selected drivers and ∼74% from other rare variants accumulating with paternal age. Thus, paternal de novo disease risk is shaped primarily by universal age-associated mutation and selection, while early mosaicism creates uncommon but clinically important high-risk individuals.

DNMs↗
PubMed1999

Naturally occurring, nonregressing canine oral papillomavirus infection: host immunity, virus characterization, and experimental infection.

Papillomaviruses occasionally cause severe, nonregressing or recurrent infections in their human and animal hosts. The mechanisms underlying these atypical infections are not known. Canine oral papillomavirus (COPV) typically regresses spontaneously and is an important model of mucosal human papillomavirus infections. A severe, naturally occurring, nonregressing COPV infection provided an opportunity to investigate some aspects of viral pathogenicity and host immunity. In this case, the papillomas proved refractory to surgical and medical treatments, including autogenous vaccination and vaccination with capsid (L1) virus-like particles. High levels of induced anti-L1 antibodies appeared to have no effect on the infection. The papillomas spread to oesophageal mucosa, perioral haired skin, and remote cutaneous sites. Isolation of COPV from the animal and sequencing of several regions of the viral genome showed no differences to the COPV prototype. Experimental infection of beagle dogs with this viral isolate resulted in the uncomplicated development and regression of oral warts within the usual period, indicating that the virus was not an unusual pathogenic variant. These findings support the hypothesis that the recurrent lesions seen in some human papillomavirus infections, such as recurrent laryngeal papillomatosis, are associated with specific defects in host immunity rather than variations in viral pathogenicity.

Animals↗
PubMed2006

Fibrocartilaginous dysplasia (fibrous dysplasia with extensive cartilaginous differentiation).

Fibrocartilaginous dysplasia is a variant of fibrous dysplasia in which extensive cartilaginous differentiation is identified. The amount of cartilage varies from case to case, however, no percentage has been proposed to consider this diagnosis. We present a 6-year-old girl with a two-year history of hip pain. Initial imaging studies of the right femur revealed a lucent lesion of the proximal shaft that extended into the femoral neck with ill-defined borders but well maintained cortex. Computed tomography scan demonstrated increased density of the medullary cavity but the cortex appeared intact. Curettage of the lesion was performed and fragments with cartilaginous appearance were obtained, weighing 45 g in total. Microscopically, the tumor revealed a cartilaginous (60%) and a fibro-osseous (40%) component; the former had increased cellularity and some chondrocytes displayed moderate atypia and binucleation, while the latter showed features of fibrous dysplasia. Areas of endochondral ossification and calcification were also identified. After five years of surgery this child is well and without evidence of recurrence. We discuss the differential diagnosis of this variant of fibrous dysplasia in the pediatric group.

Bone Neoplasms↗
PubMed1997

Mucosal, genital, and unusual clinical variants of melanoma.

To demonstrate the need for a through cutaneous and mucosal examination, we discuss and illustrate the spectrum of mucosal melanomas and unusual clinical variants of melanoma. Although cutaneous areas exposed to sunlight are most vulnerable, melanomas can occur in any site on the skin or mucous membranes. Pigmented nevi as well as mucosal and labial melanotic macules are lesions that simulate oral mucosal melanomas but are not associated with such a poor prognosis. In contrast, the 5-year survival rate for patients with malignant melanomas of the oral mucosa is only 5%. Similarly, the prognosis is poor for patients who have malignant melanomas of the vulva, vagina, male genitalia, or anorectal area; most patients with such lesions are 50 years of age or older. Subungual and plantar areas are common sites of malignant melanomas, and involvement of the eyelid margin portends a poor prognosis. Other rare variants-desmoplastic, amelanotic, and polypoid malignant melanomas-are associated with local recurrences and metastatic lesions. Early diagnosis is the key to proper treatment and improved survival rate for patients with these unusual variants of melanoma. Increased awareness of the wide variety of clinical features of melanoma should lead to earlier diagnosis.

Diagnosis, Differential↗
PubMed1999

Infiltrating micropapillary carcinoma of the breast.

Infiltrating micropapillary carcinoma of the breast is a recently described and poorly recognized aggressive variant of infiltrating ductal carcinoma for which the clinical significance and role of prognostic markers are not fully described. In 14 cases of infiltrating micropapillary carcinoma, we studied histologic characteristics; immunohistochemical expression of c-erbB-2, p53, and MIB-1; hormonal expression of these tumors; and genetic alterations on the p53 locus. We correlated these results with clinical outcome. Patient ages ranged from 37 to 58 years (mean, 50 yr). Nine patients presented with a palpable tumor, one with an axillary mass. Three patients had abnormal mammograms. Five patients (36%) presented with Stage II disease, eight (57%) with Stage III, and one (7%) with Stage IV. The tumors were a modified Bloom-Richardson Grade II in nine cases (64%) and Grade III in 5 (36%). Mitoses ranged from 1 to 12 per 10 high power fields. Necrosis was uniformly absent. Psammoma bodies were present in 9 cases (64%) and lymphatic invasion in 10 (71%). In all of the cases, c-erbB-2 was identified immunohistochemically, and MIB-I was positive, staining 30 to 60% of the tumor cells. The cells were immunoreactive for p53 in six (75%) of eight cases, and, when present, stained 20 to 50% of the tumor cells. Loss of heterozygosity on locus 17p13.1 (p53) was identified in 4 of 5 informative samples. Molecular and immunohistochemical analyses had an 80% concordance. Follow-up was available in 11 patients, of whom 9 had recurrence in the skin and chest wall (average time of recurrence, 24 mo). Recognition of this distinctive and aggressive variant of infiltrating carcinoma is important because of its unfavorable prognosis and specific pattern of local recurrence. Its aggressive nature is supported by its advanced stage at presentation and expression of unfavorable prognostic markers.

Adult↗
PubMed1995

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.

Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with scarring predominantly involves the pretibial skin. Although blistering appears to be localized clinically, electron microscopy of the dermalepidermal junction in patients with PEB reveals anchoring fibril abnormalities that are not restricted to the predilection sites. Furthermore, PEB cannot be distinguished from the generalized (Cockayne-Touraine and Pasini) types of DDEB on the basis of anchoring fibril morphology alone. The generalized forms of DDEB have been linked to the type VII collagen gene (COL7A1) on chromosome 3p21. In this study, we sought to test the hypothesis that mutations underlying PEB also reside in COL7A1. We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent. We identified a G-to-T transversion at nt position 7867, which results in a glycine-to-cysteine substitution (G2623C) in exon 105. This mutation was confirmed in affected family members using the loss of a SmaI restriction site, and when used for linkage analysis, together with an intragenic PvuII polymorphism and several flanking markers, resulted in a LOD score of Z = 3.61 at theta = 0 in this family. This is the first demonstration of genetic linkage and mutation analysis in PEB, and illustrates that the Cockayne-Touraine, Pasini, and now the pretibial clinical variants of DDEB are allelic, resulting from different glycine substitution mutations in the type VII collagen gene.

Base Sequence↗
PubMed2001

[Evaluation of prognostic factors in breast cancer EC I-II and the importance of local recurrence].

OBJECTIVE: [corrected] We evaluated the prognostic factors in patients with breast cancer EC-I-II treated in the Instituto Nacional de Cancerología in Mexico and compared patients with or without local or/and systemic recurrence. METHOD: This is a retrospective study in patients treated with conservative surgery between 1983 and 1993 with a diagnosis of invasive breast cancer and tumors <4 cm All pathological variables were analyzed and we performed studies on c-erb.B2, P53, estrogene and progesterone receivers, cellular ploidy and cellular percentage on face "S" of the cellular cycle. All these variables were compared in two groups, one with recurrences and the other without recurrences, with the same symptoms and demographics characteristics. RESULTS: From 1270 patients with breast cancer EC I-II, 139 patients were submitted to conservative surgery, 14 patients of this group recurred and were compared with 32 patients that did not, out of a total of 46 patients. We found that SBR greater than five (P = 0.046), poor differentiated tumors (P = 0.04), tumors with vascular permeability (P = 0.020) and with intraductal characteristics of a comedocarcinoma (P = 0.004) had a worse prognosis and increased the risk of local recurrences. CONCLUSIONS: In patients with breast cancer the pathological variants are more important than the so called secondary prognostic variables. Besides the pathological variants, it is acceptable only the use of hormonal receptors and the presence of c-erb-b2.

Adenocarcinoma↗
PubMed1985

Anterior capsular redundancy of the shoulder: congenital or traumatic? An embryological study.

A study of the attachment of the joint capsule to the scapula, and of the shape of the humeral head, has been carried out in 52 fetal and embryonic shoulders. In 77% of cases the anterior capsule was attached to the labrum or close to it; in the remaining 23% it was inserted into the neck of the scapula, so creating a pouch. In all 52 specimens the humeral head was spherical. It was concluded that the pouched and redundant anterior capsule sometimes seen during surgery for recurrent dislocation of the shoulder, may not be traumatic in origin, but could be a developmental variant.

Humans↗
PubMed2003

Oral manifestations of erythema multiforme.

Erythema multiforme is a reactive mucocutaneous disorder in a disease spectrum that comprises a self-limited, mild, exanthematic, cutaneous variant with minimal oral involvement (EM minor) to a progressive, fulminating, severe variant with extensive mucocutaneous epithelial necrosis (SJS and TEN). Significant differences exist among EM minor, EM major, SJS, and TEN with regards to severity and clinical expression; however, all variants share two common features: typical or less typical cutaneous target lesions and satellite-cell or more widespread necrosis of the epithelium. These features are considered to be sequelae of a cytotoxic immunologic attack on keratinocytes expressing non-self-antigens. These antigens are primarily microbial (viruses) or drugs and in rare instances histocompatibility antigens [5]. Although the precise pathogenesis is unknown, there is a tendency to consider EM both minor and major as part of one spectrum that is most often triggered by viral infections, and SJS and TEN as a separate one most often elicited by drugs with EM major and SJS representing a bridge in the continuum of EM. The oral manifestations of the spectrum of EM range from tender superficial erythematous and hyperkeratotic plaques to painful deep hemorrhagic bullae and erosions. Other mucosal surfaces including ocular, nasal, pharyngeal, laryngeal, upper respiratory, and anogenital may be involved. Scarring sequelae from ocular and pharyngeal involvement cause morbidity. The oral EM variant is an underrecognized form of EM. Most patients have chronic or recurrent oral lesions only, but one third have oral and lip lesions and one quarter have oral, lip, and skin lesions. This variant is a reaction pattern similar to EM minor, EM major, SJS, and TEN. The diagnosis of oral EM is one of exclusion. Careful clinical evaluation for other chronic mucocutaneous diseases, such as pemphigus, paraneoplastic pemphigus, mucous membrane pemphigoid, and lichen planus, is a necessary component of the diagnosis. The value of a biopsy specimen studied by both routine histopathologic and immunopathologic methods is fundamental to excluding the other causes for this variant of EM.

Diagnosis, Differential↗
PubMed2000

Dedifferentiated liposarcoma of retroperitoneum and mesentery: varied growth patterns and histological grades--a clinicopathologic study of 32 cases.

The purpose of this study was to obtain further information regarding cellular differentiation and proliferative characteristics of dedifferentiated liposarcoma (DDL) arising in the retroperitoneum and mesentery for accurate diagnosis and prognostic criteria. The patients included 20 men and 12 women, mean age, 60 years (range, 33 to 80 years). Twenty-seven tumors were located in the retroperitoneum and 5 in the mesentery. Tumor size ranged from 9 to 51 cm (mean, 24 cm). Follow-up was available on all patients and ranged from 4 to 243 months (mean, 64 months). Twenty-four (75%) patients developed local recurrences, 3 (9%) had distant metastasis, and 16 (50%) died of the disease. The predominant histology of dedifferentiation (DD) included fibrosarcoma or malignant fibrous histiocytoma (MFH) in 15 (47%), myxofibrosarcoma (myxoid MFH) in 5 (16%), mixed type in 10 (31%), and a whorling pattern in 2 (6%). Divergent differentiation, such as osseous, osteosarcomatous, chondrosarcomatous, and leiomyosarcomatous, was observed in 9 (28%). Immunoreactivity for vimentin, desmin, CD34, neurofilament, alpha-smooth muscle actin, p53, and MDM2 was observed in 32 (100%), 14 (44%), 8 (25%), 13 (41%), 14 (44%), 19 (59%), and 18 (56%) of DD areas, respectively. On the basis of a histological grading using MIB-1 (MIB-1 index range, 3% to 80%; mean, 27%) to replace mitosis counts (1 to 35/10 high-power fields [HPF]; mean, 13/10 HPF), 16 tumors each were classified as low-grade (grade 2) and high-grade (grade 3). The mixed type with poorly differentiated areas including scattered lipoblasts could be mistaken for myxoid liposarcoma but lacked the C/EBP-homologous protein-translocated in liposarcomat (CHOP-TLS) fusion genes specific for myxoid liposarcoma. Period to the first recurrence and histological grade using the MIB-1 index were associated with overall survival. Identification of DD areas, especially a poorly recognized variant of the mixed type, careful follow-up to detect early recurrence, and histological malignancy grading combined with proliferation indices are important in providing an accurate prognosis for all patients with retroperitoneal and mesenteric liposarcoma.

Adult↗
PubMed1986

Papillary meningioma. Clinicopathologic study of seven cases and review of the literature.

Seven cases of papillary meningioma are reported. The patients, 3 females and 4 males, were aged between 21 and 69 years. Five tumors were supratentorial, 1 was located in the left temporal bone, and 1 in the thoracic spinal canal. Five patients had local recurrences and died within 1.4 to 9 years of the original operation. In Case 2, one small pulmonary metastatic nodule was found at autopsy. Microscopically, these meningiomas showed foci of necrosis, numerous mitotic figures and local invasiveness. Psammoma bodies were occasional or absent. Forty-six papillary meningiomas have been identified in the literature. Certain histologic features (necrosis, high mitotic index, rich peripapillary reticulin network) and evolutive events (high rate of local recurrence, development of distant metastases) suggest that this aggressive variant of meningioma could form a histologic link between syncytial, fibroblastic, and hemangiopericytic meningiomas.

Adult↗
PubMed1993

Oncocytic variant of choroid plexus papilloma. Evolution from benign to malignant "oncocytoma".

BACKGROUND: The case of a left temporoparietal choroid plexus papilloma in a 12-year-old girl, which recurred 12 months after subtotal resection and apparent full recovery, is described. METHODS: The two consecutive surgical specimens were studied by light and electron microscopy. RESULTS: The first surgical specimen showed a tumor composed of cells with distended cytoplasm packed with numerous mitochondria characteristic of "oncocytic" change. Thus, tumor was the rare benign oncocytic variant of choroid plexus papilloma. A repeat histologic study of the recurrent tumor 12 months later showed evidence of malignant evolution in the form of multinucleated cells with frequent, often bizarre, mitotic figures. CONCLUSION: A rarely described oncocytic variant of choroid plexus papilloma that showed evidence of evolution from benign to malignant "oncocytoma" is discussed.

Adenoma↗
PubMed2001

Langerhans cell histiocytosis: recurrent lesions affecting mandible in a 10-year-old patient.

Hand-Schuller-Christian disease is a multifocal variant of eosinophilic granuloma, characterised by the classical triad of bony lesions, exophthalmos and diabetes insipidus. This case relates recurrent Langerhans' cell histiocytosis lesions presented as destruction of periodontal support associated with diabetes in a 10-year-old patient. Medical history suggests that the case represents a case of Hand-Schuller Christian disease.

Alveolar Bone Loss↗
PubMed2006

Genetic variations in radiation and chemotherapy drug action pathways predict clinical outcomes in esophageal cancer.

PURPOSE: Understanding how specific genetic variants modify drug action pathways may provide informative blueprints for individualized chemotherapy. METHODS: We applied a pathway-based approach to examine the impact of a comprehensive panel of genetic polymorphisms on clinical outcomes in 210 esophageal cancer patients. RESULTS: In the Cox proportional hazards model, MTHFR Glu429Ala variant genotypes were associated with significantly improved survival (hazard ratio [HR] = 0.56; 95% CI, 0.35 to 0.89) in patients treated with fluorouracil (FU). The 3-year survival rates for patients with the variant genotypes and the wild genotypes were 65.26% and 46.43%, respectively. Joint analysis of five polymorphisms in three FU pathway genes showed a significant trend for reduced recurrence risk and longer recurrence-free survival as the number of adverse alleles decreased (P = .004). For patients receiving platinum drugs, the MDR1 C3435T variant allele was associated with significantly reduced recurrence risk (HR = 0.25; 95% CI, 0.10 to 0.64) and improved survival (HR = 0.44; 95% CI, 0.23 to 0.85). In nucleotide excision repair genes, there was a significant trend for a decreasing risk of death with a decreasing number of high-risk alleles (P for trend = .0008). In base excision repair genes, the variant alleles of XRCC1 Arg399Gln were significantly associated with the absence of pathologic complete response (odds ratio = 2.75; 95% CI, 1.14 to 6.12) and poor survival (HR = 1.92; 95% CI, 1.00 to 3.72). CONCLUSION: Several biologically plausible associations between individual single nucleotide polymorphisms and clinical outcomes were found. Our data also strongly suggest that combined pathway-based analysis may provide valuable prognostic markers of clinical outcomes.

Adenocarcinoma↗
PubMed1997

Small cell undifferentiated carcinoma of the urinary bladder: a cytodiagnostic case report of its variant type.

Presented is a case report of a urinary bladder carcinoma that had an unusual morphology and phenotype. A 65-year-old Japanese man complained of gross hematuria. Cytological examination of the urine before a partial cystectomy revealed small, round atypical cells with a high nuclear/cytoplasmic ratio, scant cytoplasm, and hyperchromatic nuclei with coarse and granular chromatin in a bloody background. Several tumor cells had relatively large and vesicular nuclei with prominent eosinophilic nucleoli and obscure perinucleolar halos. A small number of large atypical urothelial cells were also recognized. The tumor recurred locally 3 months after the operation. The urine cytology during recurrence showed the same features without the atypical urothelial cells. These cytological findings suggested a case of small cell undifferentiated carcinoma (SCUC) combined with transitional cell carcinoma (TCC). An histology of the resected specimen before the recurrence revealed that the SCUC was consistent with a variant type of SCUC proposed for the lung and showed transition with TCC in situ. M-VAC chemotherapy after a total cystectomy was less effective. The patient died 6 months after diagnosis. A variant subtype of SCUC of the urinary bladder associated with TCC in situ has not been previously reported. Although this histological type is very rare, its earlier cytological detection is needed for appropriate therapy.

Aged↗
PubMed1994

Medulloblastoma in adults.

Seventeen adult patients (16 years of age and over) with medulloblastoma were managed at King Faisal Specialist Hospital and Research Centre between 1981 and 1992. Nine patients were males and eight were females. The average age at diagnosis was 26.7 years; the females were younger than the males. The average duration of history before diagnosis was 14.5 weeks, the females presenting earlier than the males. The tumors were located in the midline (9) and the hemispheres (8). Nine patients had the desmoplastic variant and eight had standard primitive neuroectodermal tumor. Hydrocephalus developed in 14 of the patients only seven of whom required a shunting procedure. All patients had either subtotal or gross total removal of the tumor. Sixteen patients had postoperative radiation therapy; one patient refused radiation therapy. Two patients had chemotherapy following recurrence of the tumor. The clinical presentation, radiological studies, histological variants, treatment and outcome are discussed in this report.

Adolescent↗