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At least 397 records · Page 22Linked to original sources
PubMed2007

Concurrent Ewing sarcoma family of tumors and fibrous dysplasia: possible diagnostic pitfall.

We present 2 patients with synchronous Ewing sarcoma family of tumors (ESFTs) and fibro-osseous lesion in the independent sites, possibly causing misjudgment in staging. Each patient showed another activity apart from the primary ESFT lesion on gallium and/or thallium scintigraphy at initial presentation. Of note is that such lesions showed no obvious radiologic change even though the primary ESFT lesions were mildly shrunken during chemotherapy. The biopsies confirmed fibrous dysplasia (FD) in the first patient and fibro-osseous lesion, possibly FD in the second patient. As far as we know, concurrent ESFT and FD in independent sites have never been described. However, this unusual combination emphasized the possibility of concurrent FD mimicking metastasis in a patient with malignancy and the view that exploratory biopsy should be performed in a critical case to make staging. Further investigation will be required about whether the co-occurrence of ESFD and FD in our patients is coincidence or genetic linkage.

Adolescent↗
PubMed2006

Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights.

von Willebrand disease (VWD) caused by the R1205H mutation has distinct and reproducible clinical and laboratory features. This report describes the phenotypic and molecular investigation of seven kindreds with VWD Vicenza R1205H. All affected individuals have historically been diagnosed with moderate to severe type 1 VWD. Amongst all families with highly penetrant type 1 VWD investigated at our centre, heterozygosity for the R1205H mutation was found to be the most common underlying molecular defect. A severe laboratory phenotype associated with a bleeding history that was milder than expected was commonly observed, consistent with previous published case reports; however, abnormal ultralarge high molecular weight multimers were not detected in resting plasma samples. We also provide evidence that the R1205H mutation may arise de novo--evidence that a common genetic origin for this mutation is unlikely.

DNA Mutational Analysis↗
PubMed1992

Myxoid change within cellular blue naevi: a diagnostic pitfall.

We describe four cases of a distinctive myxoid change located in the centre of cellular blue naevi. Because all the reported lesions were large and were present on pressure-exposed locations, the myxoid change is thought to be caused by pressure together with direct repeated minor tissue trauma.

Buttocks↗
PubMed1994

Nodular transformation of splenic red pulp due to carcinomatous infiltration. A diagnostic pitfall.

Autopsy of three women dying of disseminated carcinoma of stomach, colon, and breast, respectively, revealed a grossly unremarkable spleen. Microscopic examination demonstrated a nodular transformation of the red pulp, simulating a follicular lymphoma. Immunostaining revealed dissociated carcinomatous cells between the nodules, and this was thought to be the cause of the nodular transformation.

Aged↗
PubMed1995

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith-Wiedemann, Denys-Drash, Simpson-Golabi-Behmel, Perlman and possibly Meacham-Winn syndromes. Simpson-Golabi-Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson-Golabi-Behmel syndrome. Differential diagnosis between the above-mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for long-term survey of patients suspected of having Simpson-Golabi-Behmel syndrome, who could be at risk for embryonic tumours.

Abnormalities, Multiple↗
PubMed2005

Clear cell type of renal cell carcinoma with numerous hyaline globules: a diagnostic pitfall.

A unique and never-before-published example of clear cell renal cell carcinoma (CRCC) found among 9000 primary renal cell tumors is presented. The tumor contained such a dense concentration of glassy hyaline globules (GHG) in the cytoplasm of the neoplastic cells that it overshadowed the morphology of the neoplasm. The resulting appearance of the tumor was quite misleading and different from the conventional CRCC. The GHG were 7-30 microm in diameter. They were glassy and pale to slightly eosinophilic in color in hematoxylin-eosin. The GHG stained positively with periodic acid-Schiff and negatively with silver and Hale's colloidal iron. Immunohistochemically, they were also negative for anti Mycobacterium bovis antigen. At the ultrastructural level, the GHG were formed by an amorphous mass of stellate shape. The GHG were localized within rough endoplasmic reticulum. Molecular genetically, mutation of the distal part of exon 3 of the VHL gene causing elongation of the VHL protein was found in the tumor, thus confirming the diagnosis of CRCC.

Amino Acid Sequence↗
PubMed1982

Loin pain and haematuria in young women: diagnostic pitfalls.

Cystoscopy, intravenous urography and urine culture frequently fail to reveal the cause of loin pain and haematuria in young women. Two such women are presented in whom renal biopsy was not only unhelpful but also misleading. Subsequent renal arteriography showed arteriovenous fistulae which were considered erroneously to be the cause of the symptoms in both patients; in fact the fistulae were traumatic post-biopsy fistulae rather than congenital malformations. These patients were probably examples of the "loin/pain/haematuria syndrome" which is thought to have a vascular basis and may have predisposed to the formation of fistulae.

Adolescent↗
PubMedDate not supplied

A case of ovarian metastasis of gall bladder carcinoma simulating primary ovarian neoplasm: diagnostic pitfalls and review of literature.

The ovary is a relatively frequent site of metastases from malignant neoplasia arising elsewhere in the body, the majority of these originating from the gastrointestinal tract. The best-known tumor of this type is signet ring cell adenocarcinoma (Krukenberg tumor) of gastric origin and large bowel. The gall bladder and bile ducts are extremely rare sources of these metastases. The casuistic describes a female patient, presented with pelvic mass and jaundice. While clinical and imaging results suggested a primary ovarian carcinoma with incidental cholelithiasis and choledocholithiasis, the final diagnosis was obtained on the basis of histopathologic findings of resected specimen.

Adenocarcinoma↗