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Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency due to defect in various genes leading to an increase in susceptibility to skin and mucosal infection. Mutation in signal transducer and activator of transcription 1 (STAT 1) gene being the most common cause of CMC can lead to increased risk of infections, multisystem abnormalities, and malignancy. We describe a 27 year old Indian woman with clinical features of CMC including esophageal stenosis, gangrene of the finger, endocrinological and immunological abnormalities and STAT1 mutation (p.Leu407Val). She was treated with antifungals which led to symptomatic improvement.
RESUMO
BACKGROUND: Mastocytosis is characterized by clonal proliferation of mast cells in various organs and can have isolated cutaneous or systemic involvement. Childhood-onset mastocytosis (COM) is usually cutaneous and regresses spontaneously, while adult-onset mastocytosis (AOM) is often persistent with systemic involvement. There is limited data on COM from India. OBJECTIVE: To elucidate the clinicopathological profile of COM. METHODS: We conducted a retrospective chart review of all the patients with histologically proven COM (≤16 years), presenting over 11 years (January 2009 to December 2019) to the Dermatology Department. We compiled the demographic data, clinical characteristics (morphology, extent, distribution), laboratory investigations, histopathology findings, imaging (ultrasound abdomen), c-KIT mutation results, where available, and other associated abnormalities, and grouped them according to the WHO classification for mastocytosis. RESULTS: Among the 66 patients with COM (M: F-1.6:1), 89.4% had onset before 2 years of age. The subtypes were: maculopapular cutaneous mastocytosis (MPCM: 44, 66.7%); mastocytoma of the skin (MOS: 19, 28.8%); diffuse cutaneous mastocytosis (DCM: 2, 3%) and indolent systemic mastocytosis (ISM: 1, 1.5%). Blistering was observed in 29 (43.9%) and Darier sign was elicited in 47 (71.2%) patients. Serum tryptase was elevated in 9/21 (42.9%) patients, but none had systemic mastocytosis. Three patients had c-KIT mutations (two in exon 8 and one in exon 17). Most patients were managed symptomatically and the patient with ISM improved with imatinib. CONCLUSION: MPCM is the most common variant of COM and most patients had a disease onset before 2 years. Overall, COM had a good prognosis with rare systemic involvement, mitigating the need for extensive evaluation routinely in children.
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BACKGROUND: Rollout of antiretroviral therapy (ART) has helped to achieve the increased life span among pediatric HIV patients. The psychosocial aspects of parents or caregivers can affect the treatment adherence in children and the disease outcome. AIMS AND OBJECTIVES: This study aims at understanding the perspectives on disclosure of HIV status, stigma, antiretroviral treatment, and compliance among caregivers of children attending ART clinic in South India and to explore the barriers to treatment-seeking behavior. MATERIALS AND METHODS: This facility-based qualitative study was carried out among caregivers of pediatric HIV patients <15 years of age. In-depth interview was conducted on caregivers after informed consent in the absence of the child, focusing on stigma, disclosure of HIV status to children, adherence, and coping strategies followed by the parents. The complete interviews were transcribed in English, and content analysis was done to identify the emergence of codes. Interview was conducted among mothers of affected child. The disease status of the children was known only to the parents and not to the children themselves (excepting one) or siblings. Parents intended to keep it confidential for the affected children as long as possible. Nevertheless, to maintain adherence and to prevent disclosure of HIV status, mothers traveled to this ART center from very far places, medical records were hidden, and tablets were removed from the strips and said to be medicines for energy and protection. CONCLUSION: Mothers of HIV-positive children faced many difficulties to prevent the disclosure of the diagnosis from the affected children and others, which is not very conducive to adherence to the ART regimen. Effective disclosure strategies to manage this emotionally vulnerable group are an urgent need.
RESUMO
India has the third largest number of people living with HIV/AIDS. Provision of free antiretroviral therapy (ART) for eligible persons living with HIV (PLHA) has been scaled up significantly both in terms of facilities for treatment and number of beneficiaries. This study aimed at describing the profile of HIV/AIDS patients on ART from a tertiary-care hospital and to explore the factors associated with treatment-seeking behaviour, family support, and perceptions regarding HIV and ART. This is a descriptive study conducted at the ART centre in a tertiary-care hospital in Puducherry. Study population consisted of 130 HIV-positive patients aged more than 18 years on free firstline ART for at least 6 months. Data on sociodemographic details, clinical details, treatment-seeking behaviour, family support, and perceptions regarding HIV and ART were collected using a pretested questionnaire. Data are presented as percentages. In total, 130 patients on ART for at least 6 months were included in the study--61% were males (n=79), 39% were females (n=51); half of them belonged to the age-group of 36-50 years. Half of the participants were diagnosed to have HIV/AIDS between 1 and 3 year(s); two-thirds had one or more co-infection(s). The majority were aware of the side-effects of ART. After advice to start ART, there was a delay in starting treatment in one-fifth of the subjects due to depression, fear of stigma, disclosure to family, and side-effects. More than two-thirds of the patients travelled more than 30 km distance. Families of HIV-positive subjects were supportive in accompanying to the ART centre, collecting drugs, reminders to take medication, and motivation to complete the treatment. Alcohol (50%) and tobacco consumption (39%) was common among the subjects. Half of the respondents stated stigma, death, and pain as the main fears, and all of them stated high levels of trust and rapport with their doctors. This study reveals several positive aspects among ART beneficiaries. However, issues, like tobacco and alcohol consumption, travelling long distance for drug collection, fear of stigma and death, and concerns regarding the future, need to be addressed.
