1/5. 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 = 1keywords = island (Clic here for more details about this article) |
2/5. 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 = 1keywords = island (Clic here for more details about this article) |
3/5. netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.BACKGROUND: netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. methods: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct dna sequencing and performed repeated brain MRI studies with diffusion-weighted imaging. RESULTS: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among west indies islanders. MRI analyses revealed a persistent diffuse volume loss. CONCLUSION: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
4/5. Basal cell carcinoma with matrical differentiation in a transplant patient: a case report and review of the literature.BACKGROUND: Shadow cells, characterized by basaloid squamous cells with a distinct well-defined border and a central unstained area as a shadow of lost nuclei, are characteristic of pilomatricoma, a distinct neoplasm of hair matrix differentiation. The presence of shadow cells within tumor islands composed of follicular germinative cells of an otherwise classic basal cell carcinoma (BCC) has been considered as a distinct diagnostic category of BCC with matrical differentiation. We present a case of BCC with matrical differentiation in a transplant patient. To our knowledge, only 10 cases [Aloi et al. Am J Dermatopathol 1988; 10: 509; Ambrojo et al. Am J Dermatopathol 1992; 14: 293; Sagol et al. East J Med 1999; 4: 37; Kwittken J. Cutis 2002; 69: 57; Kim et al. Yonsei Med J 2003; 44: 523] of BCC showing matrical differentiation have been reported. None have been reported arising on the background of immunosuppression. methods: A 58-year-old male cardiac transplant patient with a nodule on the dorsum of left hand was studied. It arose and enlarged rapidly within a few months, causing irritation and bleeding. The nodule was surgically excised and submitted for histopathologic evaluation. The sections were prepared by hematoxylin and eosin (H&E) method. RESULTS: The H&E-stained sections of the hand lesion revealed multiple nodular masses of basaloid follicular germinative cells. In some areas, there was peripheral palisading and stromal retraction artifact typical of classic BCC. In these areas, the tumor nodules were connected to the epidermis, whereas in others, it extended deep into the reticular dermis to the subcutaneous fat junction. Elsewhere, the majority of the tumor contained a population of shadow cells, similar to those in pilomatricoma, with basaloid-appearing matrical cells in the periphery. Trichohyaline granules were identified in the cytoplasm of many of the peripheral basaloid cells. These granules are one of the characteristic features of follicular matrix differentiation. Mitoses were rare. Areas of cystic degeneration were present throughout the tumor. There was no evidence of an infiltrating growth pattern, lymphovascular invasion, or sarcomatoid growth pattern. CONCLUSION: BCC with matrical differentiation is a distinct pathologic entity and a rare subtype of BCC featuring shadow and matrical cells, typically seen in pilomatricoma, a benign hair matrix neoplasm. This tumor has not yet been reported in an immunosuppressed transplant patient.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
5/5. Rippled-pattern trichomatricoma. Histological, immunohistochemical and ultrastructural studies of an immature hair matrix tumor.A hair matrix tumor showing an unusual tumor cell arrangement was found at the base of a solitary trichoepithelioma. Coexisting with solid epithelial islands and immature hair follicle-like stroma resembling the Verocay bodies of neurilemmoma or "ripplemarks" on waves were found. In other areas myxomatous degeneration of the stroma changed the rippling into a cribriform pattern. In some parts of the tumor there was a dense melanin pigment associated with MEL5 stained melanocytes. S-100 and CD1 (OKT6) antigen stains demonstrated Langerhans cells scattered in the parenchyma and less frequently in the stroma. The majority of tumor cells were considered immature pilar cortical cells because of the following: 1. HKN-6 was strongly positive; 2. a large number of melanocytes were associated with tumor cells in some foci; 3. ultrastructurally immature tumor cells, which had electron-dense tonofilaments and many desmosomes, were transformed without production of trichohyalin granules into semikeratinized cells which showed nuclear degeneration and loss of electron density in tonofilaments. This tumor, however, has not attained the degree of differentiation observed in trichoblastoma (1) another example of an immature cortical cell tumor. Squamous eddy-like or horn pearl-like foci of incomplete keratinization and large keratin-filled cysts were also present within the immature parenchyma, indicating that some immature cells were differentiating toward non-cortical cells, as found in the outer sheath. We would like to designate this tumor "rippled pattern trichomatricoma", a new entity.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |