Granuloma annulare: an elastic tissue disease? Case report and literature review

Granuloma annulare (GA) is a condition characterized by the presence of palisading granulomas usually in the dermis. Traditionally, the histopathological changes are described as consisting of focal degeneration of dermal collagen fibers. However, no convincing evidence for such alteration is found in the literature. A histopathological study was done to ascertain the nature of the dermal abnormality. Ten skin biopsies showing lesions of GA were studied by light and electron microscopy. On light microscopy, all lesions showed focal dermal degeneration with near total loss of elastic fibers. Ultrastructural examination in nine cases demonstrated degenerated elastic fibers with loss of peripheral microfibrils and abnormal elastic matrix. The degenerated elastic fibers were surrounded by intact collagen fibers. These findings show that the main alteration in GA is elastic fiber degeneration and strongly suggest that the primary target leading to the development of this disorder is injury to the elastic tissue.     

Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature

Machado–Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent, predominant in families of Portuguese extraction, and the Joseph lineage, which is much older and worldwide spread, postulated to have an Asian origin. We report a Nigerian family with MJD from Calabar, once settled by Portuguese slave traders, and assessed its mutational origin. The proband was a 33-year-old man with progressive unsteady gait, weakness of all limbs, dysphagia, dysarthria, urinary frequency and diaphoresis. He had end-of-gaze nystagmus, spastic quadriparesis and atrophic small muscles of the hand. He showed fibrillation potentials on EMG, and nerve conduction studies suggested a central axonopathy without demyelination. This family bears the Joseph haplotype, which has a founder effect in the island of Flores, in the Azores (and their descendants in North-America), but is also the most common in non-Portuguese populations worldwide, with an estimated mutation age of around 7000 years.     

Aspergillus pleural empyema in a chronic smoker – A case report and review of literature

Aspergillus species are ubiquitous saprophytic fungi that are present in the air, water, soil, and decaying vegetables. Clinical features of Aspergillus infection largely depend on the interplay between the fungi and the host immune status.We present a case of a chronic smoker with shortness of breath who was found to have diffuse bronchiectatic changes and empyema of the right lung. Emphysema was also noticed in the left lung. Rare Aspergillus fumigatus was identified in the pleural fluid, while the acid-fast stain and bacterial cultures were negative. The patient's serum Aspergillus fumigatus IgG antibody and galactomannan antigen were negative; however, the pleural galactomannan antigen was elevated. He was treated with video-assisted thoracoscopic surgery (VATS) and partial decortication of the right lung, along with intravenous voriconazole. Despite aggressive therapeutic measures, he died after a prolonged hospital stay.Aspergillus pleural empyema is rare but can be fatal; however, it is not included in the classification for pulmonary aspergillosis. Clinicians should be vigilant to evaluate for fungal empyema in patients with chronic obstructive pulmonary diseases, even without profound immunosuppression.     

Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and mycophenolate mofetil in a liver transplant patient: a case report and review of the literature

Pelger-Hu?t anomaly is a congenital or acquired abnormality of neutrophil nuclear segmentation. The acquired form may be a result of a clonal myeloid malignancy, such as myelodysplastic syndrome, or may be a secondary nonclonal change related to a variety of underlying causes, including infections and medications. We report a case of a 56-year-old man who developed acquired Pelger-Hu?t anomaly following liver transplantation while on the immunosuppressive agents tacrolimus and mycophenolate mofetil. These medications have been reported in association with this abnormality, but usually as a single agent or in combination with other drugs. In our case, the Pelger-Hu?t anomaly may be the result of the combination of these 2 drugs or mycophenolate alone with subsequent desensitization because resolution of the abnormality occurred after a reduction in mycophenolate mofetil dose, and the abnormality did not recur when mycophenolate mofetil was increased to a dose previously associated with Pelger-Hu?t anomaly during the time that tacrolimus was discontinued.     

Filiform polyposis: A benign entity? Case report and literature review

Filiform polyposis (FP) is a distinctive and unusual form of benign non syndromic polyposis that is occasionally encountered in the colon of patients with inflammatory bowel disease (IBD) history. FP is characterized by one to hundreds, slender, arborizing, vermiform projections in the colon lined by normal or inflammatory colonic mucosa. Only rare cases without history or evidence of IBD have been reported. In those cases, the sigmoid colon was the most common location and none of them showed dysplasia or malignancy neither at first evaluation nor during follow-up. In this report, we present the first case of FP associated with six adenomas developed on filiform polyps and invasive adenocarcinoma in the right colon of a 54 year-old man without a past medical history of IBD.     

Primary breast lymphoma – a review of the literature and report of three cases

Primary breast lymphoma (PBL) is a rare disease accounting for 0.4-0.5% of all breast malignancies. Diffuse large B-cell lymphoma (DLBCL) is the most common histological diagnosis. The clinical presentation of PBLs is usually no different from that of carcinoma. In this paper we review the literature on the clinical presentation, diagnosis, prognostic factors and treatment options of PBL. In the light of the information gained we discuss three patients with primary breast lymphoma (one with a central nervous system relapse) who were treated in our department in the years 2002-2007. In conclusion: there is no consensus on the question of how to best treat PBL: chemotherapy, radiotherapy or combined therapy. However, the last approach to be the most successful one. Due to high incidence of central nervous system (CNS) involvement in PBL patients, many authors strongly believe that patients with aggressive forms of PBL should receive CNS infiltration prophylaxis, even in the early stages, as this may improve the outcome and significantly reduce the risk of a CNS disease relapse.     

Concomitant non-Hodgkin’s lymphoma in colon and liver: report of a rare case and review of literature

A 58-year-old male patient was admitted with right upper abdominal pain. Initial hematologic evaluation revealed mildly elevated serum carcinoembryonic antigen and carbohydrate antigen (CA) 19-9 tests, while an abdominal CT-scan showed a circumferential mass along the distal ascending colon and the right flexure of colon, simultaneously a liver lesion in segment 8 is considered metastases from colorectal. colonoscopic examination revealed a circumferential growth tumor in the right flexure of colon and the colonoscopy can not reach the proximal of the tumor. We performed a right hemihepatoectomy and a right hemicolectomy associated with loco-regional lymphadenectomy. Histological examination showed diffuse large B-cell lymphomas in resected right colon as well as liver tumors. The patient received six courses of chemotherapy with CHOP-based regimens. At 14-month follow-up before this report, the patient is still alive and free of disease.     

Immune-complex deposits in “pauci-immune” glomerulonephritis: a case report and brief review of recent literature

Anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis is considered a “pauci-immune” disease, characterized by absent or mild glomerular tuft staining for immunoglobulin and/or complement. We describe a 72-year-old man with progressive renal failure over five months who was found to have P-ANCA associated crescentic glomerulonephritis. Renal biopsy also revealed immunofluorescence staining for Immunoglobulin G and C3. Treatment comprised corticosteroids, cyclophosphamide, and plasmapheresis but unfortunately kidney function did not recover, likely due to substantial interstitial fibrosis at diagnosis. This case illustrates that serologic evaluation for ANCAs should not be discounted when immune deposits are present. Prompt diagnosis is warranted.     

Beh?et’s disease-like syndrome secondary to microbial infection: a case report and review of the literature

Behçet’s disease (BD)-like syndrome is an extremely rare situation occurred after Mycobacterium tuberculosis infection and virus infection. We reported a 45-year-old woman who visited our hospital complaining of swollen left ankle, painful genital ulcer, redness in the left eye and skin rash on lower limbs. The patient had a history of pleural tuberculosis and had received anti-tuberculous therapy for one year. Her left cervical lymph node sample demonstrated tubercle bacilli DNA fragmentation. The diagnosis of tuberculous lymphadenitis and Behçet’s disease (BD)-like syndrome were made. This patient’s symptoms remitted following treatment with anti-tuberculous therapy. This case indicates that some microbial infection can trigger the onset of BD-like syndrome in genetically susceptible subjects. However, treatment strategy of BD-like syndrome secondary to infection is totally different from primary BD. The aim of this case report is to present our experience of the different clinical signs and treatment of BD-like syndrome to expedite its early diagnosis in future. Combination of clinical, radiological, immunophenotypic, pathological, and genetic data contribute to improving the rate of diagnosis.     

A systematic review of trends and patterns of congenital heart disease in children in Nigeria from 1964–2015

BackgroundCongenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists.ObjectivesTo determine the patterns of congenital heart disease in children in Nigeria and examine trends in the occurrence of individual defects across 5 decades.MethodWe searched PubMed database, Google scholar, TRIP database, World Health Organisation libraries and reference lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and 2015. Two researchers reviewed the papers independently and extracted the data. Seventeen studies were selected that included 2,953 children with congenital heart disease.ResultsThe commonest congenital heart diseases in Nigeria are ventricular septal defect (40.6%), patent ductus arteriosus (18.4%), atrial septal defect (11.3%) and tetralogy of Fallot (11.8%). There has been a 6% increase in the burden of VSD in every decade for the 5 decades studied and a decline in the occurrence of pulmonary stenosis. Studies conducted in Northern Nigeria demonstrated higher proportions of atrial septal defects than patent ductus arteriosus.ConclusionsVentricular septal defects are the commonest congenital heart diseases in Nigeria with a rising burden.     

Streptococcus equi subspecies zooepidemicus meningitis—a case report and review of the literature

A case is described of a 79-year-old man, trampled by his horses, who subsequently developed a wound infection and, later, meningitis. Streptococcus equi subsp. zooepidemicus was isolated as the causative organism. S. equi subsp. zooepidemicus, which carries the Lancefield Group C antigen, is an uncommon human pathogen but is commonly isolated from bacterial infections in animals, particularly horses. It is most commonly acquired by humans following animal contact. A review of the literature identified 20 previously described cases of S. equi subsp. zooepidemicus meningitis. Crude mortality following infection was 24%. All of the patients who died were over 70 years of age and the ingestion of unpasteurised dairy products was associated with all but one of the fatal cases. Hearing loss was a frequent complication, occurring in 19% of cases. Only 38% of patients made a complete recovery. Treatment regimes commonly included benzylpenicillin or a third-generation cephalosporin, with a mean treatment duration in survivors of 23 days.     

Multiple primary Ewing’s sarcomas in cerebral cranium of a child: a case report and review of the literature

Ewing’s sarcoma is the second most common pediatric bone tumor. Primary Ewing’s sarcoma occurring in the cerebral cranium is exceptionally rare, with only one reported case of multiple tumor lesions in adolescence to date. We report a case of a 5-year-old male patient with multiple primary Ewing’s sarcomas associated with the cranial bones, the first pediatric case report to date. We also review 71 cases Ewing’s sarcoma involving intracranial extension. The purpose of this article is to provide data concerning the clinical and therapeutic course of multiple primary Ewing’s sarcomas in associated with cerebral cranium.     

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain- and PHD Finger-Containing Protein (BRPF1) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients. Genetic testing using Whole Exome Sequencing (WES) revealed a novel heterozygous c.1433G > A; p.W478* (NM_004634.3) pathogenic variant on exon 3 of the BRPF1 gene. The patients demonstrated classical features of IDDDFP such as intellectual disability, developmental delay, ptosis, micro and retrognathia, and dysmorphic facial features, in addition to the anemia and thrombocytopenia. Apart from the variant in BRPF1, no additional genomic changes were detected by WES and chromosomal microarray analysis (CMA). Hopefully, our novel report on the hematopoietic anomalies of our patients due to BRPF1 will expand upon the clinical spectrum of IDDDFP, encourage further studies about BRPF1-hematopoietic system relations, and affect the diagnostic and therapeutic schemes of hematopoietic system disorders.     

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

The scalp-ear-nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. We report a case of a woman with hypothelia, bilateral mildly malformed ears, and syndactyly of the hands and feet, and review the literature on the hypothelia/athelia phenotype. This case may represent a mild phenotype of the scalp-ear-nipple syndrome or a newly recognized entity.     

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature

Tetrasomy for the distal chromosome 15q is rare, and only 22 patients (including 6 cases without detailed information) have been described to date in the literature. Here we report on another patient with nonmosaic tetrasomy 15q25.2-qter resulted from an inverted duplication of distal chromosome 15. This patient presents with features of development delay, arachnodactyly, joint contractures and typical facial dysmorphism including frontal bossing, short palpebral fissures, long philtrum, low-set ears, high-arched palate and retrognathia. Unlike most of the related patients, abdominal ultrasound test and brain MRI showed normal. Karyotyping analysis revealed a supernumerary marker chromosome presented in all metaphase cells examined. Parental karyotyping analysis was normal, indicating a de novo chromosome aberration of the patient. SNP microarray analysis found a two copy gain of 17.7 Mb from the distal long arm of chromosome 15 (15q25.2-qter). Further FISH analysis using SureFISH 15q26.3 IGF1R probe proved an inverted duplication of distal long arm of chromosome 15. The segmental duplications which lie in the hotspots of 15q24-26 might increase the susceptibility of chromosome rearrangement. Compared with the George-Abraham' study [2012], ADAMTSL3 might be more related to the cardiac disorders in tetrasomy 15q patients. Considering all patients reported in the literature, different mosaic degrees and segmental sizes don't correlate to the severity of phenotypes. A clear delineation on tetrasomy for distal chromosome 15q could still be investigated.