1/1125. Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis detected a transitional change (T-->C) at nucleotide 335, resulting in substitution of the amino acid proline for leucine. The mutation is in exon 5, which has been proposed as a "hot-spot" for germline mutations. Comparison of this patient's clinical course with the previously reported cases of CD and LDD shows more extensive and more severe clinical findings than reported previously. Findings in this patient contribute to the current understanding of germline PTEN mutations and clinical outcome.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/1125. Atrophie blanche lesions closely resembling malignant atrophic papulosis (Degos' disease) in systemic lupus erythematosus.Two patients with systemic lupus erythematosus are described who in the course of their disease developed small atrophie blanche lesions that closely resembled those found in malignant atrophic papulosis. Preliminary investigation of these two cases indicates that considerable similarities probably exist in the pathogenesis of malignant atrophic papulosis and the atropie blanche lesions of systemic lupus erythematosus. It is concluded that a diagnosis of malignant atrophic papulosis should only be made after systemic lupus erythematosus has been excluded by full investigation.- - - - - - - - - - ranking = 0.83333333333333keywords = disease (Clic here for more details about this article) |
3/1125. dermatofibrosarcoma protuberans: an early non-protuberant phase of the tumour.A 40-year-old female patient presented with a flat scar like plaque on the upper chest. The patient's perception of subtle change in the lesion was of paramount importance in the decision to biopsy this lesion of innocuous clinical appearance. Histopathological findings were those of dermatofibrosarcoma protuberans. This case illustrates the early clinical features of the tumour and a recommendation for taking a biopsy of any scar-like plaque where there is no clear history of preceding trauma.- - - - - - - - - - ranking = 0.00012690718854359keywords = tube (Clic here for more details about this article) |
4/1125. Poikiloderma vasculare atrophicans.A 46-year-old Negro man with poikiloderma vasculare atrophicans is described. The disease progressed graduall.y for 22 years, with lesions appearing over the neck, trunk and extremities in an asymmetrical distribution, but it did not become lymphoma or collagen disease. Treatment did not appear to influence the course of the disease.- - - - - - - - - - ranking = 0.5keywords = disease (Clic here for more details about this article) |
5/1125. immunoblastic lymphadenopathy-like T-cell lymphoma complicated by multiple gastrointestinal involvement.We report a rare case of immunoblastic lymphadenopathy (IBL)-like T-cell lymphoma complicated by multiple gastrointestinal involvement, which appeared to be ameliorated by chemotherapy but resulted in perforative peritonitis. A 66-year-old Japanese woman who had generalized lymphadenopathy and eruptions was admitted to our hospital because of bloody stool. Colonoscopic examination revealed hemorrhagic ulcers in the terminal ileum and a saucer-like ulcer in the cecum. Gastrointestinal endoscopy revealed several ulcerative or elevated lesions in stomach and duodenum. biopsy specimens of these lesions and of a lymph node showed characteristic histological features of IBL-like T-cell lymphoma. The initial treatment with prednisolone (PSL) and cyclophosphamide (CPA) was effective. Six months after the treatment, however, she developed bloody stool again caused by multiple ulcerative lesions in the large intestine. The recurrence of the disease was determined histologically, and four courses of CPA, PSL, vinblastine sulfate and doxorubicin hydrochloride (CHOP) therapy were administered. One month after completing the CHOP therapy, she developed intestinal obstruction and then acute peritonitis resulting from perforation at an ulcer scar in the jejunum. Surgical treatment was successful, and histological examination demonstrated no lymphoma cells in the resected specimen. A gastrointestinal perforation should be recognized as a potential complication of IBL-like T-cell lymphoma, even during remission.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
6/1125. Cutaneous waldenstrom macroglobulinemia in transformation.waldenstrom macroglobulinemia is a low-grade B-cell lymphoproliferative disorder of the elderly with characteristic monoclonal IgM-producing neoplastic infiltrates of the bone marrow, lymph node, and spleen. Cutaneous manifestations are usually nonspecific such as purpura, ulcers, and urticarial lesions. These lesions are caused by hyperviscosity of the blood, immune complex-mediated vascular damage, paraprotein deposition, and amyloid deposition. Specific skin lesions occur rarely and generally consist of translucent, flesh-colored papules composed of monoclonal IgM deposits. Rarely, there may be violaceous lesions composed of low-grade lymphoplasmacytic infiltrates characteristic of waldenstrom macroglobulinemia. Both cutaneous manifestations of the disease, as well as disease transformation to high-grade, large cell lymphoma are rare. We report two very unusual cases of waldenstrom macroglobulinemia with documented skin disease that demonstrated transformation to high-grade lymphoma. Both patients were elderly men with long-standing waldenstrom macroglobulinemia involving the bone marrow, who subsequently developed skin involvement by the disease. waldenstrom macroglobulinemia can rarely manifest as cutaneous disease, sometimes as a high-grade transformation of low-grade waldenstrom macroglobulinemia elsewhere. Distinction of cases of transformed waldenstrom macroglobulinemia from de novo cutaneous large cell lymphoma may be important, because the two entities are likely biologically different.- - - - - - - - - - ranking = 0.83333333333333keywords = disease (Clic here for more details about this article) |
7/1125. Successful treatment of acquired perforating dermatosis with rifampicin in an Asian patient with sclerosing cholangitis.Acquired perforating dermatosis (APD) is a very rare disorder which has been described in association with systemic diseases such as diabetes mellitus, hiv infection or lymphoma. In this report we describe a patient with APD associated with sclerosing cholangitis and diabetes mellitus who was successfully treated with rifampicin. A 33-year-old Indian woman with a history of extensive pancreatic surgery, sclerosing cholangitis and insulin dependent diabetes mellitus was referred to our unit with intractable pruritus. She was treated with cholestyramine, ursodeoxycholic acid, several analgesics, UVB therapy, topical steroids, sedative antihistamines and plasmapheresis without significant improvement. Increasingly severe itching was associated with papular skin changes limited initially to the lower limbs but which later involved her entire body. biopsy of a representative lesion showed the changes of APD. She was subsequently treated with rifampicin which produced a dramatic resolution of pruritus within 3 weeks and the skin changes progressively resolved over subsequent months. In this newly described association of APD with sclerosing cholangitis, rifampicin treatment appeared to be efficient in ameliorating pruritus and the papular skin changes typical of APD.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
8/1125. A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes. Here, we describe a mutation detection strategy where the entire KRT6A gene, approximately 7 kb, is specifically amplified by long-range PCR. Using this technique, we have detected two novel mutations in the 1A domain of the K6a polypeptide, N171K and F174S. Mutations were confirmed in the affected individuals and were excluded from 50 unaffected unrelated individuals by restriction enzyme analysis of KRT6A PCR products. Additionally, mutation N171K was confirmed by RT-PCR in mRNA derived from lesional palmoplantar epidermis of an affected individual, confirming the specificity of the genomic PCR for the functional K6a gene. This, together with a similar strategy which we have developed for the K16 gene, provide a robust system for mutation detection and prenatal diagnosis for patients with PC-1.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
9/1125. skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.We report a 2-year-old boy with an unusual autosomal recessively inherited skin disease comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails and sweat glands. skin biopsy showed widening of intercellular spaces between keratinocytes and ultrastructural findings of small, poorly formed desmosomes with reduced connections to the keratin filament cytoskeleton. Immunohistochemical analysis revealed a complete absence of staining for the accessory desmosomal plaque protein plakophilin 1 (PKP1; band 6 protein). The affected individual was a compound heterozygote for null mutations on both alleles of the PKP1 gene. Both mutations occurred within the amino terminus of PKP1, the domain which normally binds the cytoskeletal keratin filament network to the cell membrane. Apart from its localization within desmosomal plaques, PKP1 may also be present within the cytoplasm and nucleus and has putative roles in signal transduction and regulation of gene activity. The clinicopathological observations in this patient demonstrate the relevance of PKP1 to desmosome formation, cutaneous cell-cell adhesion and epidermal development and demonstrate the specific manifestations of human functional knockout mutations in this gene.- - - - - - - - - - ranking = 0.16666666666667keywords = disease (Clic here for more details about this article) |
10/1125. Annular elastolytic giant cell granuloma: sparing of a burn scar and successful treatment with chloroquine.Annular elastolytic giant cell granuloma is a rare granulomatous skin disease characterized by phagocytosis of elastic fibres by multinucleated giant cells. Lesions are either solitary or grouped in a few annular patches with elevated borders and central atrophy. Sun-exposed areas are more commonly involved than covered skin. The pathogenesis of the disease is still controversial. We report a 72-year-old fair-skinned woman with unusual clinical findings. An irregularly shaped erythematous plaque covered the entire face, and hundreds of lichenoid papules were present on both sun-exposed and covered areas which gradually evolved into annular lesions of about 0.5-1 cm in diameter. Sparing of an old burn scar and a nearly complete lack of elastic fibres in the scar site were noted, illustrating the presumed importance of dermal elastic tissue in the pathogenesis. The course of the disease is chronic. Several treatments have been tried, with variable success. In our patient, improvement was achieved with chloroquine over a period of 16 weeks.- - - - - - - - - - ranking = 0.5keywords = disease (Clic here for more details about this article) |
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