1/28. Trichodysplasia spinulosa--a newly described folliculocentric viral infection in an immunocompromised host.This is a case report of an immunocompromised individual who presented with progressive alopecia, friable follicular spinous processes, and erythematous, indurated papules. Examination of skin biopsies using light microscopy and immunohistochemistry revealed pathologic changes of the follicular inner root sheath epithelium with dystrophic trichohyaline granules. Electron microscopy of thin sections of tissue revealed intracellular viral particles with a size and appearance consistent with those in the Papovaviridae family. Electron microscopy of negatively stained extract from a homogenized lesion also demonstrated icosahedral viruses with papovavirus morphology. We believe this is a previously unreported folliculocentric viral infection in an immunosuppressed human host and have termed this entity "trichodysplasia spinulosa".- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/28. Pilomatrix dysplasia in an immunosuppressed patient.Immunosuppressive drugs have been used for many years in the prevention of graft failure in transplant recipients. Although they improve morbidity and mortality after transplantation, these medications carry a significant risk of adverse mucocutaneous and systemic effects. We describe a patient receiving 4 immunosuppressive drugs who experienced persistent facial dysmorphism along with striking follicular disturbances. On histopathologic examination, the follicular structures were dilated and hyperplastic with a peculiar dysplasia of the pilar matrix. Based on a review of the clinical, microscopic, and investigational findings of the skin previously reported in association with her immunosuppressive drugs, we conclude that cyclosporine was the most likely causative agent. Moreover, hypertrichosis, dysmorphic facies, and tissue hyperplasia have all been observed in patients during cyclosporine administration.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
3/28. Implantable defibrillator therapy in Naxos disease.Naxos disease is a unique form of right ventricular cardiomyopathy with a high prevalence of malignant ventricular arrhythmias, including sudden cardiac death. As a hereditary systemic disease confined to a small island, it has been closely studied over the last 15 years. The implantation of an automatic defibrillator provides an alternative form of antiarrhythmic management to improve life expectancy in these high risk cardiac patients. We present the first two Naxos disease patients with malignant ventricular arrhythmias who had defibrillator implantation.- - - - - - - - - - ranking = 52.839479585702keywords = right ventricular cardiomyopathy, ventricular cardiomyopathy, cardiomyopathy (Clic here for more details about this article) |
4/28. Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.- - - - - - - - - - ranking = 0.11049125724079keywords = cardiomyopathy (Clic here for more details about this article) |
5/28. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.OBJECTIVES: The goal of this study was to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly hair. BACKGROUND: arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder causing arrhythmia and sudden cardiac death. We report a patient with familial autosomal recessive ARVD, woolly hair, and a pemphigous-like skin disorder with a new mutation in the desmoplakin gene. methods: Genomic deoxyribonucleic acid was extracted from the patient's blood and 12 first- and second-degree family members, and was amplified by polymerase chain reaction. Linkage analysis with polymorphic microsatellites was performed for 11 genes that code for structural desmosomal proteins. The genetic locus of the disease in this family was mapped to the chromosomal region 6p24 that contains the desmoplakin gene. exons of the desmoplakin gene were analyzed by single-strand conformational polymorphism and direct sequencing. Confirmation of the mutation was carried out by restriction enzyme analysis. RESULTS: We identified in the patient a homozygous missense mutation in exon 24 of the desmoplakin gene, leading to a Gly2375Arg substitution in the C-terminal of the protein where the binding site to intermediate filaments is located. Eight of 12 family members without hair or skin abnormalities were heterozygous for this mutation. The remaining 4, as well as 90 unrelated healthy control individuals of the same ethnic origin, were homozygous for the normal allele. CONCLUSIONS: We have described a new mutation in the desmoplakin gene that causes familial ARVD. These findings suggest that desmosomal proteins play an important role in the integrity and function of the myocardium. Dysfunction of these proteins can lead to the development of cardiomyopathies and arrhythmias.- - - - - - - - - - ranking = 340.75289573238keywords = arrhythmogenic, arrhythmogenic right, dysplasia, cardiomyopathy (Clic here for more details about this article) |
6/28. Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. This disease is a heart muscle disorder causing life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. The pathological hallmark of the disease is the progressive replacement of myocardial cells by fat and fibrous tissue. It appears in families descending from the Hellenic island of Naxos. We presented a 13-year-old Turkish boy with Naxos disease associated with ventricular tachycardia because of its rarity, and reviewed the literature.- - - - - - - - - - ranking = 349.1079990473keywords = arrhythmogenic, right ventricular cardiomyopathy, arrhythmogenic right, ventricular cardiomyopathy, cardiomyopathy (Clic here for more details about this article) |
7/28. Naxos disease in saudi arabia.Naxos disease is an autosomal recessive genodermatosis characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. In this report we describe an early case of Naxos disease and we briefly review the literature of this disorder.- - - - - - - - - - ranking = 0.11049125724079keywords = cardiomyopathy (Clic here for more details about this article) |
8/28. Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene.OBJECTIVE: Naxos disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. methods: This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003. Naxos disease has been encountered in a 2-year-old girl and her 30-year-old aunt of a Saudi Arab family. Deoxyribonucleic acid samples of this family were analyzed by polymerase chain-reaction (PCR) amplification of the respective region of the plakoglobin gene, and direct nucleotide sequencing of the PCR-products. Segregation analysis was performed employing the newly detected IVS11 22G/A polymorphism. RESULTS: Molecular genetic analysis of the dna sample of the child diagnosed with Naxos disease showed absence of the Pk2157del2 mutation. In addition, the segregation analysis revealed heterozygosity for IVS11 22G/A in the affected girl. CONCLUSION: Absence of the Pk2157del2 frameshift in the affected child proved that Naxos disease in this Saudi Arab family is not caused by the same mutation that was identified in the Greek families. Furthermore, heterozygosity for the IVS11 22G/A polymorphism provided evidence for exclusion of the plakoglobin gene in this consanguineous family.- - - - - - - - - - ranking = 0.11049125724079keywords = cardiomyopathy (Clic here for more details about this article) |
9/28. Virus-associated trichodysplasia spinulosa.Virus-associated trichodysplasia spinulosa (VATS) is a cutaneous eruption of spiny papules predominantly affecting the face that is associated with a distinctive histologic picture of abnormally maturing anagen follicles with excessive inner root sheath differentiation and hyperkeratotic infundibula. Ultrastructurally, intranuclear viral particles consistent with polyoma virus are found. Only 2 patients have thus far been reported. Both had developed the eruption after a kidney transplant. We report 2 additional cases of VATS. One is an 8-year-old boy who presented with facial papules after a kidney transplant. The other is a 19-year-old man with a history of acute lymphocytic leukemia who never had a transplant. He developed a papular facial eruption as well as alopecia. light microscopic and ultrastructural examinations revealed a spectrum in the severity of the histologic alterations as well as the number of intranuclear viral particles. This report expands the range of pathologic alterations associated with VATS and documents for the first time that it can affect patients without a solid organ transplant. The similarity of the clinical and histologic features of VATS with those previously reported by others as cyclosporine-induced "follicular dystrophy" or "pilomatrix dysplasia" raises the possibility that the described phenomena may reflect the same entity. Increased awareness of the distinct histologic picture associated with VATS will likely lead to more frequent diagnosis of this underrecognized entity.- - - - - - - - - - ranking = 1.2keywords = dysplasia (Clic here for more details about this article) |
10/28. Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy.Woolly hair and palmoplantar hyperkeratosis is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular dysplasia (Naxos disease) or dilated cardiomyopathy. We report the sporadic occurrence of the aforementioned skin-hair anomalies in a patient with physical findings compatible with Noonan's syndrome and hypertrophic cardiomyopathy-an association heretofore not described.- - - - - - - - - - ranking = 85.77354866223keywords = arrhythmogenic, arrhythmogenic right, dysplasia, cardiomyopathy (Clic here for more details about this article) |
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