ABSTRACT
We evaluated retrospectively, efficacy and safety of taliglucerase alfa for Gaucher disease in a Brazilian population. Thirteen patients were included for efficacy analysis only one of them naïve to enzyme replacement therapy. All the parameters evaluated remained stable throughout treatment (mean duration 3,5years). Only three patients (out of 35) had to discontinue treatment due to a serious adverse event. In conclusion, treatment with taliglucerase alfa was found to be safe and efficient.
Subject(s)
Enzyme Replacement Therapy/methods , Gaucher Disease/drug therapy , Glucosylceramidase/therapeutic use , Adult , Aged , Brazil/epidemiology , Female , Gaucher Disease/epidemiology , Glucosylceramidase/adverse effects , Humans , Male , Middle Aged , Retrospective Studies , Treatment OutcomeABSTRACT
We report a case of a patient with localized discoid lupus erythematosus (DLE) who was found to have high-grade squamous dysplasia (carcinoma in situ) over the upper lip. This report also consists of a brief review of 16 other cases of DLE with squamous cell carcinoma (SCC) we came across while going through the literature in an Indian scenario.Incidence of SCC over DLE in the Indian population is found to be 0.98% to 3.4% with a male-to-female ratio of 1.6:1. The latent period between onset of DLE and development of SCC was 9.59 ± 5.6 years.There was history of chronic sun exposure in 81.8% of patients, which indicates a possible role of prolonged ultraviolet light exposure in malignant transformation. The lips were the most commonly affected area (28.57%), with the upper lip being more commonly involved than the lower lip. We also observed that the latent period (5 ± 2.7 years) in lip tumours was shorter than that in other sites (11.22 ± 6.78 years), indicating a more rapid transformation in lips (p value = 0.038). Well differentiated was the most common (46.2%) type of SCC noted. Lymph node involvement was found in three of 17 cases (25%) and one case (8.3%) had recurrence of lesions after excision.We conclude that in India though SCC is rare per se, its occurrence in the context of DLE is not uncommon and is aggressive in nature.
Subject(s)
Carcinoma, Squamous Cell/complications , Carcinoma, Squamous Cell/etiology , Lupus Erythematosus, Discoid/complications , Lupus Erythematosus, Discoid/pathology , Antibodies, Antinuclear/analysis , Asian People , Biopsy , Carcinoma in Situ/pathology , Female , Humans , India , Lip Neoplasms/pathology , Male , Middle AgedABSTRACT
Incontinentia pigmenti is an X- linked dominant condition characterized by cutaneous lesions associated with developmental defects of the eye, skeletal system and central nervous system. We report a case of incontinentia pigmenti in a 30 day old female infant who presented to us with skin eruptions over bilateral upper limbs, lower limbs and trunk since birth. She had linear verrucous plaques and vesicles distributed along the Blaschko's lines in addition to macular hyperpigmentation in a linear and whorled pattern involving the concerned areas. On ophthalmological examination, proliferative retinopathy in the right eye was noted.
