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We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.
Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.
Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.
OBJECTIVE: To evaluate the efficacy of long-term treatment with cyclosporin A (CSA) in systemic lupus erythematosus (SLE). METHODS: Thirty patients with SLE whose condition was either poorly responsive or unresponsive to treatment with steroids and/or cytotoxic drugs were enrolled in a prospective, nonrandomized study of CSA. Patients with hypertension or hypercreatinemia were excluded. Disease activity was evaluated according to the systemic lupus activity measure. Assessments were made prior to study entry and after 6, 12, 18, and 24 months. RESULTS: Twenty-seven patients completed at least 24 months of treatment with CSA. The mean disease activity score significantly decreased after 6 months of therapy (P < 0.01); this result was maintained throughout the study. A conspicuous steroid-sparing effect was observed following administration of CSA (P < 0.01). Side effects included hypertrichosis (63% of patients), paresthesias (23%), gastrointestinal symptoms (20%), gingival hyperplasia (17%), hypertension (10%), tremors (7%), and nephrotoxicity (13%). No significant changes in serum creatinine levels were observed. CONCLUSION: CSA represents a helpful second-choice treatment for patients with active SLE. Administration of CSA necessitates expert and careful followup of patients.
beta-glucuronidase deficiency in fibroblasts, leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl, now 13 years old, who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency, craniofacial dysmorphism, a short neck, protruding sternum, vertebral deformities and corneal clouding. Coarse granulations were found in her leucocytes. The liver and spleen are not enlarged and there is no gingival hyperplasia. Additional features, hitherto undescribed, are hydronephrosis and defective ossification of the medial carpal and tarsal bones. Low enzyme activity in the parents and a normal brother suggests heterozygosity.
A 6-month-old female infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, restricted joint movements and radiological features suggestive of the Hurler syndrome. Her urine showed no excess excretion of mucopolysaccharides. I-cell disease was suspected from the onset of clinical features in early infancy, the subsequent progress and the absence of mucopolysacchariduria. Marked elevation of the activity in serum of three lysosomal enzymes confirmed the diagnosis. This patient had repeated convulsions, a feature not previously reported in this condition. This is the first case report of I-cell disease from India.
Four children, 4 to 10 years old, with chronic uveitis were treated with cyclosporin A (CsA; starting dosage 2 mg/kg per day) and prednisolone. All children had previously received systemic steroids and/or cytotoxic agents, which resulted either in a poor therapeutic effect or in intolerable side effects. In one child, suffering from uveitis in combination with juvenile rheumatoid arthritis, a complete reduction of intraocular inflammation was achieved. In a second child treatment resulted in a marked reduction of inflammatory activity with stabilization of visual function, although a temporary increase in the steroid dosage was necessary at one stage. In the remaining two cases therapy failed to improve the intraocular inflammation. During the time of treatment, ranging from 11 to 26 months, no serious side effects were observed. All patients developed moderate hypertrichosis and one child gingival hyperplasia. In our experience, cyclosporin A (CsA) combined with low-dose systemic steroids is useful as a therapeutic alternative to steroids alone and to other immunosuppressive agents in severe cases of chronic uveitis in childhood.
We evaluated cyclosporine A (CsA) treatment in 9 patients (6 female and 3 male), 16-63 years old, with severe myasthenia gravis (MG) for a mean period of 2 years (range 16-36 months). All of the patients had been previously treated either with corticosteroids or by combined immunotherapy, and 5 needed periodic plasma exchanges. The reduction of plasmapheresis cycles in the 5 patients who needed periodic plasma exchange to maintain an acceptable quality of life showed an impressive cost-benefit analysis. During CsA treatment 7 of 9 patients improved their muscle strength and functional score. In all the patients except one the corticosteroid dosage was reduced and in 7 of the 9 patients the dose reduction was over 50% with subsequent reduction of the corticosteroid side effects. The findings showed that initiation of CsA treatment increased muscle strength and reduced corticosteroid dosage. The most common CsA side effects were: a serum creatinine increase that occurred in the first 6-12 months of therapy in 8 patients, other side effects like hypertrichosis and gingival hyperplasia were present in four patients. Blood pressure increase was found in only one patient. CsA treatment may be a valuable and cost effective treatment in severe MG.
As a consequence of chronic renal failure (CRF) and its treatment, a number of oro-dental changes occur that persist after the end-stage is reached. An early effect is enamel hypoplasia due to a defect of enamel development and mineralisation. This is usually reparable to a high aesthetic standard using dental composite filling material. Children with CRF have significantly less dental caries than healthy children due to the inhibitory effect of increased salivary urea levels. Grafted patients frequently develop gingival enlargement as a result of immunosuppression with cyclosporine A, which is further exacerbated by the additional use of antihypertensive calcium-blocking agents. Surgical reduction of gingival hyperplasia is effective and is required in approximately one third of adolescents. A very high standard of home care should be encouraged for all children with CRF in the form of thorough mechanical tooth cleaning and plaque inhibition through the use of an antibacterial mouthwash. In transplanted children presenting an increased risk of infection, antibiotic prophylaxis may be indicated for dental treatment procedures. The drug dosage should be adapted to the reduced renal function. Pediatric nephrologists should be aware that dental surgeons can make a considerable contribution to the general health and well-being of children with CRF. Thus, only oro-dental problems that are mainly encountered and treated by dental surgeons are reviewed.
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Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.
The mucopolysaccharidoses (MPS) are a group of genetic lysosomal storage diseases. These diseases result from a defect in specific lysosomal enzymes required for the degradation of specific mucopolysaccharides. These incompletely degraded saccharides accumulate in tissues and are excreted in the urine. A general characteristic of these diseases is dysostosis multiplex. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. This report examines multiple dentigerous cysts in a patient with a deficiency in N-acetylgalactosamine-4-sulfatase, Maroteaux-Lamy syndrome (MPS VI). The inability to hydrolyze the sulfate group from N-acetylgalactosamine-4-sulfate residue of dermatan sulfate due to a deficiency in this enzyme results in the accumulation of dermatan sulfate in tissues and its excretion in the urine. Examination of dentigerous cyst fluid revealed glycosaminoglycan content of 397 microgram per milliliter. Compositional analyses revealed 60% hyaluronic acid, 30% chondroitin 4- and -6-sulfate, and only 10% dermatan sulfate. This was consistent with dentigerous cyst fluid derived from persons without mucopolysaccharide-storage disorders but distinctly different from glycosaminoglycans assayed from other body fluids of this patient.
Tissues from twenty-four patients with focal hyperplastic gingival lesions containing calcification were stained for lysozyme (muramidase), alpha-1-antitrypsin, and alpha-1-antichymotrypsin. In eighteen of the twenty-four cases the tissues stained positively for lysozyme, and in all instances the tissues stained positively for alpha-1-antitrypsin and alpha-1-antichymotrypsin. These data suggest that the fibrous components of these lesions are derived from tissue histiocytes.
Gingival overgrowth, dental plaque, and gingivitis were assessed by means of standardized semiquantitative indices in thirty renal transplant patients undergoing immunosuppression with cyclosporin-A (Cy-A). Radioimmunoassay techniques were used to determine Cy-A in serum samples and in parotid, submandibular, and whole saliva samples from each patient. A significant positive correlation was found between gingival overgrowth scores and both dental plaque and gingivitis scores. A significant positive correlation was found between whole-saliva Cy-A and both plaque and gingival overgrowth scores. No such correlation was found when parotid Cy-A or submandibular Cy-A was considered. This was attributed to differences in saliva-collection methods, and a possible role of dental plaque as a local reservoir of Cy-A is proposed.
BACKGROUND: Wegener's granulomatosis is a complex disease that can be difficult to diagnose, especially if the classic triad of necrotizing granulomas of the respiratory tract, generalized vasculitis, and glomerulitis are not present. A delay in diagnosis may result in irreversible kidney damage and ultimately death. OBJECTIVE: This study was done to identify clinical and histologic findings of the skin and oral mucosa that may aid in the diagnosis of this disease. METHODS: The records of 40 patients with Wegener's granulomatosis were reviewed. RESULTS: Of these patients 12 had cutaneous lesions, 2 had oral mucosal lesions, and 2 had both cutaneous and oral mucosal lesions. Cutaneous and oral mucosal lesions were a presenting sign in 10% and 5% of patients, respectively. Overall, 25% demonstrated at least one of the specific cutaneous histopathologic findings described for Wegener's granulomatosis, that is, necrotizing vasculitis, granulomatous vasculitis, and palisading granuloma. One patient had gingival hyperplasia with petechiae, considered to be pathognomonic for Wegener's granulomatosis. CONCLUSION: This study demonstrates that cutaneous or oral mucosal findings may serve as valuable diagnostic aids when evaluating a patient suspected of having Wegener's granulomatosis.
Remarkable swelling of the foot pad was induced in guinea pigs sensitized with BSA-phenytoin by challenging with BSA-phenytoin or EA-phenytoin. Forty-eight hours after local injection of a mixture of exudate cells obtained from the abdominal cavity of sensitized guinea pigs. and BSA (EA)-phenytoin, both erythema and induration developed at the injection sites in normal guinea pigs. At the sites exhibiting these skin reactions, an exudation of mononuclear leukocytes was noted. In addition, macrophages obtained from the abdominal cavity of phenytoin-sensitized animals showed a low migration index in the presence of phenytoin. When phenytoin was administered to rats (p.o.), large amounts of the compound were detected in the gingiva and there was a good correlation between the tissue and serum phenytoin concentrations. These findings indicate that the etiology of gingival hyperplasia produced by chronic administration of phenytoin may be related in some way to a delayed-type hypersensitivity induced by the drug.