1/11. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
2/11. Oral carcinoma in a young man: a case of dyskeratosis congenita.We report a 28-year-old male with a voluminous growth of the tongue, present for 6 months. The histological examination revealed a squamous cell carcinoma. The patient was also affected by oral leukoplakia, nail dystrophy, reticulated poikiloderma of the neck and hyperkeratosis of palms and soles. On the basis of clinical features and histological findings, as well as findings from the family, the diagnosis of dyskeratosis congenita (DKC) was made.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
3/11. dyskeratosis congenita: report of a case.dyskeratosis congenita is a rare multisystem condition involving mainly the ectoderm. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. The case of a 14-year-old girl is described who presented with several of the characteristic systemic features of this condition, together with the following oral features: hypodontia, diminutive maxillary lateral incisors, delayed dental eruption, crowding in the maxillary premolar region, short roots, poor oral hygiene, gingival inflammation and bleeding, alveolar bone loss, caries and a smooth atrophic tongue with leukoplakia. Although this condition is rare, dental surgeons should be aware of the dental abnormalities that exist and the risk of malignant transformation within the areas of leukoplakia.- - - - - - - - - - ranking = 3keywords = leukoplakia (Clic here for more details about this article) |
4/11. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. Recent studies demonstrated mutations in the DKC1 gene encoding a protein named dyskerin, which is a component of human telomerase. In addition to the hypothesized function of pseudouridination in rRNA biosynthesis, ribosomal subunit assembly, and/or centromere/ microtubule binding, lower levels of telomerase activity in cells from patients with X-linked DKC have been observed. We report the mutation analysis of a Taiwanese family with X-linked DKC. The patient was a 19-year-old man who presented with progressive reticulate hyperpigmentation, nail dystrophy, alopecia, leukoplakia of the tongue, and pancytopenia. He died of enterocolitis and escherichia coli sepsis at the age of 20 years. Only his mother's dna was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene. Recent advances in the research of telomerase and its implications in the human aging process and cancer are discussed.- - - - - - - - - - ranking = 2keywords = leukoplakia (Clic here for more details about this article) |
5/11. dyskeratosis congenita associated with three malignancies.dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
6/11. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita.dyskeratosis congenita (DKC) is a rare and fatal congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancies. Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita. Here we report mutation analysis of two Chinese pedigrees with dyskeratosis congenita. The 15 coding exons of DKC1 and their flanking regions were amplified from genomic dna by PCR. dna sequencing and restriction endonuclease digestion were used for mutation detection. Transition mutation of 1226C-->T (P409L) found in the first pedigree is a novel mutation. In the second pedigree, the proband's mother phenotypically normal carried a de novo transition mutation of 1058C-->T (A353 V) in one allele, and transmitted the mutant allele to her two sons who had typical manifestations of dyskeratosis congenita.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
7/11. dyskeratosis congenita vs. chronic graft versus host disease: report of a case and a review of the literature.dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome characterized by the triad of reticular pigmentation of the skin, nail dystrophy, and mucosal leukoplakia. DC is often associated with severe pancytopenia, and bone marrow failure is the principal cause of early mortality. Malignant transformation of mucosal leukoplakias may also occur. Rarely, aplastic anemia precedes the other clinical manifestations of the disease. We present a case of a 13-year-old boy who was diagnosed at age four with idopathic aplastic anemia, was treated successfully with an allogeneic bone marrow transplant, then subsequently developed skin, nail, and tongue lesions. While the initial impression was chronic graft-versus-host disease, additional work-up confirmed the diagnosis of DC.- - - - - - - - - - ranking = 2keywords = leukoplakia (Clic here for more details about this article) |
8/11. Usual interstitial pneumonia complicating dyskeratosis congenita.dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes. Pulmonary complications occur in approximately 20% of patients, although the specific histopathologic features, the temporal relationship between the diagnosis of DC and the development of pulmonary fibrosis, and the response to specific treatment are largely undefined. We describe 2 patients with DC who developed usual interstitial pneumonia. pulmonary fibrosis developed 18 and 38 years after the original manifestations of DC. Both patients died of respiratory failure, 4 and 6 months after lung biopsy. pulmonary fibrosis in patients with DC may be linked to underlying abnormalities of fibroblast function.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
9/11. Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita: report of a case.dyskeratosis congenita (DC) is a very rare inherited disorder characterized by skin pigmentation, nail dystrophy, and mucosal leukoplakia. It is also associated with a variety of noncutaneous abnormalities, such as fatal pulmonary complications, malignancy, and bone marrow failure.We report the case of a 32-year-old man with DC associated with severe aplastic anemia (SAA). The traditional treatment of DC-associated SAA is allogeneic hematopoietic stem cell transplantation (HSCT). However, in this case, an HLA-matched donor was not available. Therefore our patient was given intensive immunosuppressive therapy with antilymphocyte globulin (ALG) and cyclosporine A (CsA). The hemogram findings improved after the treatment, but the patient died of pulmonary complications after being in stable condition for 6 months. The results support the possible use of intensive immunosuppression with ALG and CsA for DC-associated SAA as an alternative treatment for patients who are not eligible for HSCT.- - - - - - - - - - ranking = 1keywords = leukoplakia (Clic here for more details about this article) |
10/11. dyskeratosis congenita: dental management of a medically complex child.dyskeratosis congenita (DKC) is a rare syndrome characterized by cutaneous hyperpigmentation, nail dystrophy, leukoplakia, and pancytopenia. The purpose of this case study was to describe the management of a 7-year-old girl diagnosed with DKC who urgently needed dental treatment under general anesthesia before bone marrow transplantation (BMT). The patient presented normal skin, nails, and hair, but oral examination revealed a number of ulcers, leukoplakia, gingival recessions, alveolar bone loss, and dental caries. Hematologic preparation included raising blood parameters, and the anesthesiologist to had consider pulmonary infection. The alveolar bone loss and the gingival recessions required the consultation of a periodontist. Avoiding stainless steel crowns was necessary due to potential plaque accumulation in the crown margins. The goal of this dental treatment was eliminating potential sources of infection before transplantation was conducted. It is important for the pediatric dentist to recognize the medical aspects associated with dental management prior to BMT, and to incorporate them into the treatment plan.- - - - - - - - - - ranking = 2keywords = leukoplakia (Clic here for more details about this article) |
| | Next -> |