Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome.
Context:Amyloidosis, which is characterized by the extracellular deposition of a proteinaceous substance, is usually associated with considerable tissue dysfunction. However, the etiology of the disease remains uncertain and the treatment disappointing.Aim:1. To know the epidemiology of cutaneous amyloidosis 2. To evaluate the effect of dimethylsulphoxide on cutaneous amyloidosis.Settings and Design:Data was collected from patients attending the Outpatient Department (OPD) over a period of one year.Material and Methods:Patients were screened on the basis of signs and symptoms and then confirmed histologically. A total of 62 patients who were suspected to be suffering from amyloidosis on the basis of clinical signs and symptoms and 38 patients who were further confirmed histopathologically underwent the treatment.Statistical Analysis Used:Chi-square test was used for testing the significance of proportions.Results:63.15 percent of the patients had macular amyloidosis and the interscapular area was the most common area involved (52.63%). Pruritus, pigmentation, and papules responded excellently to dimethylsulphoxide after one month of treatment.Conclusions:Cutaneous amyloidosis is a disease found in middle-aged persons, with a female preponderance, and dimethylsulphoxide seems to be an effective therapy.
Background: The pattern of skin diseases varies from one country to another and across different parts within the same country. The prevalence of skin disease in the general population varies from 11.16 % to 63 %. Patients in their second and third decades of age form the largest group of population. A proper treatment is essential for cure and control of these diseases. The aim of the study was to find the pattern of skin diseases in Meerut district of western UP and common group of drugs prescribed for them.Methods: It was a prospective, observational, single center study. The relevant data was collected from OPD prescriptions by taking photographs of the prescriptions and details were filled in the predesigned proforma.Results: A total of 500 OPD prescriptions were collected and analyzed for demographic profile, disease incidence and drug prescription. Three most common conditions observed were tinea (15.25%), acne (12.36%), drug induced cutaneous reactions (10.11%). Antifungals (19.4%), Antibiotics (17.6%), Antihistamines (15.9%) and Corticosteroids (9.4%) were the most common class of drugs prescribed. Dosage forms prescribed were mostly topical (51.2%) in the form of ointments, creams, lotions, shampoo, powders.Conclusions: From our study we found out that tinea (15.25%) and acne (12.36%) were more common in this region and antifungals were most the commonly prescribed group of drugs (19.4%). Number of drugs/prescription was much higher (4.1) than the recommended limit of 2 approved by WHO and practice of polypharmacy was also commonly seen.
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