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Mãos , Humanos , Masculino , Diagnóstico Diferencial , Dermatoses da Mão/diagnóstico , FemininoRESUMO
Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.
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Lipedematous scalp is a rare cutaneous disorder, characterized by subtle but conspicuous scalp swelling, usually associated with dysesthesia. The chronic recalcitrant nature of this condition can be extremely debilitating for the patient. We report a case of boggy scalp swelling and dysesthesia in a 37yearold female present for five years. Magnetic resonance imaging (MRI) brain showed thickening of subcutaneous tissue of the scalp. Histopathological examination revealed thickened and edematous subcutaneous tissue, reaching up to the upper dermis. A diagnosis of lipedematous scalp was made. The patient was reassured about the benign nature of the disease and given symptomatic treatment for dysesthesia. Herein we discuss the approach to a case of boggy dysesthetic scalp swelling and the available treatment options.
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BACKGROUND: Our aim was to measure the effectiveness of oral isotretinoin with desloratadine compared with oral isotretinoin alone in treating moderate to severe acne at a tertiary care teaching hospital in North India. In this study, 90 patients with moderate to severe acne were enrolled to participate based on their fulfilling the inclusion criteria. METHODS: A randomized, assessor-blinded, parallel-arm study was conducted. Randomization was done using computer-generated tables to allocate treatments in a 1:1 ratio. A low-dose oral isotretinoin at a dose of 0.3 mg/kg/day with tab desloratadine at 5 mg/day was applied to the study group and compared against the same patients going without the dosage when controls were conducted. Follow-up was at 4, 8, and 12 weeks. RESULTS: The primary outcome was an improved global acne grading system (GAGS) score and decreased acne lesion count. SECONDARY OUTCOME: patient satisfaction with treatment. The 90 participants were randomized and 15 participants dropped out of the study, leaving 75 participants for intention to treat analysis (n = 41, n = 30). At week 12, the GAGS score and acne lesion count between the study and control groups were comparable (P > 0.05). Pruritus reported was 9.76% in the study versus 33.33% in the control group (P = 0.018). Also, 53.66% of participants reported "excellent" treatment satisfaction in the study group versus 36.67% in the control group. CONCLUSIONS: The addition of desloratadine to an isotretinoin regimen has a role in reducing disease and therapy-related pruritus in acne and leads to improved patient satisfaction.
Assuntos
Acne Vulgar , Fármacos Dermatológicos , Isotretinoína , Loratadina , Satisfação do Paciente , Índice de Gravidade de Doença , Humanos , Isotretinoína/administração & dosagem , Isotretinoína/efeitos adversos , Acne Vulgar/tratamento farmacológico , Loratadina/administração & dosagem , Loratadina/análogos & derivados , Loratadina/efeitos adversos , Feminino , Masculino , Administração Oral , Adulto Jovem , Fármacos Dermatológicos/administração & dosagem , Fármacos Dermatológicos/efeitos adversos , Adolescente , Adulto , Quimioterapia Combinada , Método Simples-Cego , Resultado do Tratamento , Antagonistas não Sedativos dos Receptores H1 da Histamina/administração & dosagem , Antagonistas não Sedativos dos Receptores H1 da Histamina/efeitos adversosRESUMO
Kindlins serve as mechanosensitive adapters, transducing extracellular mechanical cues to intracellular biochemical signals and thus, their perturbations potentially lead to cancer progressions. Despite the kindlin involvement in tumor development, understanding their genetic and mechanochemical characteristics across different cancers remains elusive. Here, we thoroughly examined genetic alterations in kindlins across more than 10,000 patients with 33 cancer types. Our findings reveal cancer-specific alterations, particularly prevalent in advanced tumor stage and during metastatic onset. We observed a significant co-alteration between kindlins and mechanochemical proteome in various tumors through the activation of cancer-related pathways and adverse survival outcomes. Leveraging normal mode analysis, we predicted structural consequences of cancer-specific kindlin mutations, highlighting potential impacts on stability and downstream signaling pathways. Our study unraveled alterations in epithelial-mesenchymal transition markers associated with kindlin activity. This comprehensive analysis provides a resource for guiding future mechanistic investigations and therapeutic strategies targeting the roles of kindlins in cancer treatment.
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Proteínas de Membrana , Proteínas de Neoplasias , Neoplasias , Humanos , Neoplasias/genética , Proteínas de Membrana/genética , Proteínas de Neoplasias/genéticaRESUMO
We report a case of refractory paediatric pemphigus vulgaris with sepsis, treated successfully with intravenous immunoglobulin (IVIG) and amniotic membrane dressing. The patient was initially started on oral prednisolone (1 mg/kg/day) and dapsone 50 mg once daily. Azathioprine 50 mg orally was then used in place of dapsone due to rapid disease progression with extensive skin involvement. However, the patient developed sepsis and azathioprine had to be discontinued. Because of rapidly progressive disease and sepsis, the patient was put on IVIG at a dose of 2 g/kg in divided doses over 3 days along with amniotic membrane dressing. There was marked improvement after 2 weeks of follow-up.
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Pênfigo , Sepse , Humanos , Criança , Pênfigo/complicações , Pênfigo/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Azatioprina/uso terapêutico , Curativos Biológicos , Sepse/complicações , Sepse/tratamento farmacológico , Dapsona/uso terapêuticoRESUMO
Parthenium dermatitis is the commonest form of plant dermatitis in India, caused by the plant Parthenium hysterophorus. Systemic immunosuppressives are commonly employed in its treatment. However, there is a relative lack of comparative head-to-head trials. This study was done to assess the relative efficacy and safety of systemic treatments in Parthenium dermatitis. We systematically reviewed all the published studies investigating the safety and efficacy of systemic treatments for Parthenium dermatitis in the Cochrane Central Register of Controlled Trials, MEDLINE, Embase, and clinical trial registries. Treatment benefit data were tabulated based on outcome measures of scoring systems. The quality of evidence for each outcome was assessed by Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria for meta-analysis. The pooled Standardized mean difference (SMD) for case series and comparative studies based on clinical severity score (CSS) for azathioprine was 4.007 (95% CI (Confidence interval): 3.141, 4.873) and 0.746 (95% CI: 0.139, 1.352), respectively. About 88.8% (95% CI: 76.8%, 100.8%, p = 0.076) of the patients had excellent or a good response to azathioprine. Our meta-analysis shows that azathioprine has the highest level of evidence in the treatment of Parthenium dermatitis.
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Asteraceae , Dermatite Alérgica de Contato , Humanos , Azatioprina/uso terapêutico , Dermatite Alérgica de Contato/tratamento farmacológico , Dermatite Alérgica de Contato/etiologia , Imunossupressores/efeitos adversos , ÍndiaRESUMO
An 11-year-old boy presented with serial autoamputations of the right 4th and 5th toes during the past 6 years. This was associated with sensory loss on the right leg and development of constriction bands around the right 2nd and 3rd digits for the past 5 months. For a year, the patient had been treated with paucibacillary, multi-drug therapy (PB-MDT) with a presumptive diagnosis of leprosy. He was born from a nonconsanguinous marriage and the birth was uneventful. The developmental milestones were normal, and no family history of any congenital anomalies was reported.
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Ainhum , Masculino , Humanos , Criança , Pele , Extremidade Inferior , Dedos do PéRESUMO
Familial hypercholesterolemia (FH) is characterized by an increase in plasma low-density lipoprotein-cholesterol (LDL-C) levels. It presents with tendon/skin xanthomas and premature atherosclerotic cardiovascular disease. The most available treatment options for FH are lipid-lowering medications such as statins, lifestyle modification, and LDL apheresis. As per American Society for Apheresis guidelines 2019, the treatment of FH using LDL apheresis falls under Category I. Here, we are reporting an interesting case of a young patient who presented with chief complaints of progressively increasing yellowish lesions around eyes, neck, hands, and legs. She was thoroughly investigated and was diagnosed provisionally as a case of Type 2 FH. Her total serum cholesterol and LDL-C were 717.2 mg/dl and 690.6 mg/dl, respectively, at presentation. One cycle of LDL apheresis was planned for her. We found immediate post-procedural reduction of 55.8% and 55.3% for total serum and LDL cholesterol levels respectively while 70.58% and 77.41% reduction in the levels from the day of presentation to the hospital.