1/19. dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.- - - - - - - - - - ranking = 1keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
2/19. dyskeratosis congenita and nasopharyngeal atresia.dyskeratosis congenita is a multisystem disorder with an increased incidence of neoplasia and opportunistic infections. A case is reported as a cause of complete nasopharyngeal atresia.- - - - - - - - - - ranking = 0.016321385792916keywords = congenita (Clic here for more details about this article) |
3/19. Oral-dental findings in dyskeratosis congenita.A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia, growth retardation, alopecia, mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.- - - - - - - - - - ranking = 1.2336786142071keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
4/19. Case study: pachyonychia congenita: a mixed type II-type IV presentation.A 52-year-old woman in good health with a family history negative for dermatologic diseases presented to our department with thickening and dystrophy of all her fingernails and toenails that started when she was born. She also had hyperkeratosis on the palms of her hands and soles of her feet that was confined to sites of pressure and recurrent plantar blisters that began appearing at puberty. The patient reported marked pain while walking from such plantar involvement. Her medical history revealed a persistent hoarseness; palmoplantar hyperhidrosis; and the appearance of numerous cysts on her back, neck, and scalp since she was 20 years old. These latter lesions had been diagnosed as multiple steatocystoma on the basis of the histologic features. Upon examination, all of her fingernails and toenails appeared shortened, thickened,and dystrophic (Figures 1-3). In addition, they presented subungual keratosis and a yellowish-gray color. Hyperkeratosis and small ulcerations were present on the perionychium. Palmoplantar keratoderma was evident, especially on the soles,in association with superficial erosions (Figure 4). Keratosis pilaris was evident on the extensor surfaces of the forearms as well as on the anterior surfaces of the legs. Multiple nodules were detected on the patient's neck, trunk, and axillary regions(Figure 5). They consisted of multiplex steatocystoma and were characterized by a hemispheric shape, a normal-appearing skin color, and by an elastic consistency on palpation. Oral and dental changes were not detected, although hair anomalies were evident. Laboratory parameters disclosed eosinophilia and increased total IgE levels. The results of serum protein electrophoresis was normal, as were those concerning hepatic and renal functions. The ophthalmology examination showed neither corneal dyskeratosis nor cataracts. The neurologic-psychiatric visit revealed slight mental retardation.- - - - - - - - - - ranking = 0.037385608994443keywords = dyskeratosis, congenita (Clic here for more details about this article) |
5/19. 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 = 0.016321385792916keywords = congenita (Clic here for more details about this article) |
6/19. Congenital keratinizing desquamative squamous epithelium of the entire urinary tract.We report the clinical and pathological findings of a case of congenital desquamative squamous epithelium of the entire urinary tract associated with body dysmorphism. This entity has not been described previously in the literature.- - - - - - - - - - ranking = 0.0032642771585832keywords = congenita (Clic here for more details about this article) |
7/19. dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and pneumocystis carinii pneumonia.A 24-year-old Japanese man presented with dyskeratosis congenita (DC, Zinsser-Cole-Engman syndrome) complicated by non-cirrhotic portal hypertension, signet ring carcinoma of the rectum and pneumocystis carinii pneumonia. At the age of 9 years, he was diagnosed as having DC on the basis of typical clinical manifestations including atrophic lingual papillae, hyperpigmentation of the skin, thrombocytopenia, and ophthalmological abnormalities. A few years later pancytopenia and splenomegaly developed. At 24 years, signet ring carcinoma of the rectum was detected but could not be resected because of the severity of the pancytopenia. death was due to respiratory failure from P. carinii pneumonia. At autopsy the case illustrated several unique findings for DC, including non-cirrhotic portal hypertension, atrophy of frontal lobe and markedly slender folia of the cerebellum and superimposed infections with herpes zoster virus and P. carinii. Striking lymphocyte depletion and atrophy of lymphoid parenchyma in lymph nodes, tonsils, spleen, gastrointestinal tract, or thymus were seen histologically. The morphological picture supports the suggestion that there is a defect in the cell-mediated immune system in patients with DC, although immunoglobulin levels in the blood are normal. The cell-immune deficiency is a major factor in the poor prognosis.- - - - - - - - - - ranking = 0.25979283147575keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
8/19. Acquired dyskeratotic leukoplakia.A 36-year-old woman developed progressive dyskeratotic leukoplakia of the palate, lips, attached gingiva, and labial surfaces of the genitalia. On microscopic examination, clusters of dyskeratotic cells were found throughout the epithelium, except in the basal cell layer. The clinical and histologic differential diagnosis included candidiasis, oral hairy leukoplakia, lichen planus, condyloma acuminatum, Darier's disease, hereditary benign intraepithelial dyskeratosis, and white sponge nevus. Her clinical and histologic findings do not permit classification into any of these well-recognized entities.- - - - - - - - - - ranking = 0.02432850036011keywords = dyskeratosis (Clic here for more details about this article) |
9/19. dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature.dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.- - - - - - - - - - ranking = 0.016321385792916keywords = congenita (Clic here for more details about this article) |
10/19. thrombocytopenia: first symptom in a patient with dyskeratosis congenita.A case of dyskeratosis congenita is reported. This rare hereditary disease usually has the following progression: ectodermal dystrophy (reticular skin pigmentation, nail dystrophy, leukokeratosis of mucosal membranes), appearing in the first decade, followed in about 50% of these patients by a hematopoietic disorder resembling Fanconi's anemia, usually developing in the second or third decade. Carcinomas may occur in leukokeratotic areas in the third, fourth, or fifth decade. This patient's clinical course is interesting because the thrombocytopenia developed as an isolated symptom at the age of 5 years and preceded the skin anomalies by three years. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. The diagnosis of dyskeratosis congenita--although it is a rare disease--should be considered in every child first seen with aplastic anemia or thrombocytopenia.- - - - - - - - - - ranking = 1.7271500598899keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
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