Indhra Priyadharshini, Sirisha Varala, Tallapaka Bharadwaj, A. Krishna
Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin, papules and nodules, hyperpigmentation over bony prominences, gingival hypertrophy and systemic manifestations such as joint contractures, osteopenia, recurrent infections, diarrhea, and short stature. Histopathological examination of the affected tissue shows deposition of amorphous hyaline material. Mutations in the gene encoding capillary morphogenesis protein-2/anthrax toxin receptor 2 (ANTXR2) are implicated in the pathogenesis. Here, we report a 16-month-old toddler with HFS whose genetic analysis revealed a novel homozygous frameshift mutation in exon 13 of ANTXR2 gene.
{"title":"A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis","authors":"Indhra Priyadharshini, Sirisha Varala, Tallapaka Bharadwaj, A. Krishna","doi":"10.4103/ijpd.ijpd_26_22","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_26_22","url":null,"abstract":"Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin, papules and nodules, hyperpigmentation over bony prominences, gingival hypertrophy and systemic manifestations such as joint contractures, osteopenia, recurrent infections, diarrhea, and short stature. Histopathological examination of the affected tissue shows deposition of amorphous hyaline material. Mutations in the gene encoding capillary morphogenesis protein-2/anthrax toxin receptor 2 (ANTXR2) are implicated in the pathogenesis. Here, we report a 16-month-old toddler with HFS whose genetic analysis revealed a novel homozygous frameshift mutation in exon 13 of ANTXR2 gene.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"242 - 244"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45908336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Immunosuppressants are required for an array of pediatric dermatoses. Certain dermatological conditions require long-term use of immunomodulators such as methotrexate and mycophenolate mofetil. All immunosuppressants have varying toxicity profiles and long-term use of these in the pediatric age group may lead to significant adverse effects. This concise review focuses on the immunosuppressants commonly used for dermatoses in children and gives a comprehensive list of the various indications for use in each and associated adverse effects on long-term use. An English language search was done on studies published till date on immunosuppressant use in pediatric dermatoses. A documented review was prepared, analyzed, and presented in a narrative fashion to highlight the important pediatric indications for the use of the respective immunosuppressant, with special emphasis on the adverse effects on prolonged usage.
{"title":"A comprehensive review of immunosuppressive drugs in pediatric dermatoses: Part II – methotrexate and mycophenolate mofetil","authors":"S. Bose, Bhushan Madke","doi":"10.4103/ijpd.ijpd_84_21","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_84_21","url":null,"abstract":"Immunosuppressants are required for an array of pediatric dermatoses. Certain dermatological conditions require long-term use of immunomodulators such as methotrexate and mycophenolate mofetil. All immunosuppressants have varying toxicity profiles and long-term use of these in the pediatric age group may lead to significant adverse effects. This concise review focuses on the immunosuppressants commonly used for dermatoses in children and gives a comprehensive list of the various indications for use in each and associated adverse effects on long-term use. An English language search was done on studies published till date on immunosuppressant use in pediatric dermatoses. A documented review was prepared, analyzed, and presented in a narrative fashion to highlight the important pediatric indications for the use of the respective immunosuppressant, with special emphasis on the adverse effects on prolonged usage.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"204 - 213"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47083762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.4103/ijpd.ijpd_171_21
H. Teo, T. Lim, K. Leong, P. Muniandy
Pemphigus foliaceus (PF) is uncommon among children. The usage of rituximab in childhood PF is even less documented. We reported a case of a 16-year-old boy with juvenile PF who failed conventional treatments and was started on combination therapy of intravenous immunoglobulin (IVIG) and rituximab followed by six-monthly rituximab maintenance therapy. He achieved full remission and no adverse effects. Therefore, in cases of recalcitrant juvenile PF, combination therapy of IVIG and rituximab can be considered.
{"title":"Successful treatment of recalcitrant juvenile pemphigus foliaceus with intravenous immunoglobulin and rituximab","authors":"H. Teo, T. Lim, K. Leong, P. Muniandy","doi":"10.4103/ijpd.ijpd_171_21","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_171_21","url":null,"abstract":"Pemphigus foliaceus (PF) is uncommon among children. The usage of rituximab in childhood PF is even less documented. We reported a case of a 16-year-old boy with juvenile PF who failed conventional treatments and was started on combination therapy of intravenous immunoglobulin (IVIG) and rituximab followed by six-monthly rituximab maintenance therapy. He achieved full remission and no adverse effects. Therefore, in cases of recalcitrant juvenile PF, combination therapy of IVIG and rituximab can be considered.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"245 - 248"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47437401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.4103/ijpd.ijpd_137_20
Ketki Chaudhary, Kritika Agrawal, V. Paliwal, P. Bhargava, D. Mathur
Subcutaneous zygomycosis is a rare deep fungal infection caused by a group of fungus belonging to the order Entomophtharales. It is a saprophytic fungus and the predominant species causing the infection includes Basidiobolus ranarum and Conidiobolus coronatus. We, hereby, report a case of a 17-month-old female child who presented with a painless, solitary, woody hard enlarging mass which was disfiguring the left side of the face for 6 months. After our complete workup, a diagnosis of subcutaneous zygomycosis was made. The patient was managed on syrup Itraconazole and potassium iodide drops. The patient responded to the trreatment remarkably. We would like to present our take on workup and treatment of a solitary painless enlarging mass on the face in a child.
{"title":"Subcutaneous zygomycosis: A diagnostic and therapeutic challenge","authors":"Ketki Chaudhary, Kritika Agrawal, V. Paliwal, P. Bhargava, D. Mathur","doi":"10.4103/ijpd.ijpd_137_20","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_137_20","url":null,"abstract":"Subcutaneous zygomycosis is a rare deep fungal infection caused by a group of fungus belonging to the order Entomophtharales. It is a saprophytic fungus and the predominant species causing the infection includes Basidiobolus ranarum and Conidiobolus coronatus. We, hereby, report a case of a 17-month-old female child who presented with a painless, solitary, woody hard enlarging mass which was disfiguring the left side of the face for 6 months. After our complete workup, a diagnosis of subcutaneous zygomycosis was made. The patient was managed on syrup Itraconazole and potassium iodide drops. The patient responded to the trreatment remarkably. We would like to present our take on workup and treatment of a solitary painless enlarging mass on the face in a child.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"230 - 233"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47842086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric dermatoses constitute an array of varied diseases, a few of which may require long-term treatment with immunosuppressants in the form of corticosteroids (CS) and steroid-sparing agents such as azathioprine, cyclosporine, and methotrexate. There are numerous articles mentioning long-term adverse effects of these immunosuppressants in adults, but just a few mentioning the same in the pediatric age group. This concise review focuses on the immunosuppressants commonly used for dermatoses in children and gives a comprehensive list of the various indications for use in each and associated adverse effect on long-term use. A comprehensive search was done using PubMed, Google, EMBASE, Cochrane, and MEDLINE on studies published till date on immunosuppressant use in pediatric dermatoses with special emphasis on the safety and adverse effects on long-term therapy. Only English language articles were considered. Thirty-eight articles were found, of which only 28 were selected after removing duplication and articles having no relevant information. Clinical as well as randomized double-blinded or single-blinded controlled trials, open-label studies, retrospective studies, case series, reviews, and case reports on the use of immunosuppressants in pediatric age group, including their long-term adverse effects were screened and a documented evidence was prepared, analyzed and presented in a narrative fashion to highlight the important pediatric indications for the use of the respective immunosuppressant, with special emphasis on the adverse effects on prolonged usage. The review has been divided into two parts for the reader's benefit. Part I consists of CS, azathioprine, and cyclosporine, whereas, Part II consists of methotrexate and mycophenolate mofetil.
{"title":"A comprehensive review of immunosuppressive drugs in pediatric dermatoses: Part I - Corticosteroids, azathioprine, and cyclosporine-A","authors":"S. Bose, Bhushan Madke","doi":"10.4103/ijpd.ijpd_83_21","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_83_21","url":null,"abstract":"Pediatric dermatoses constitute an array of varied diseases, a few of which may require long-term treatment with immunosuppressants in the form of corticosteroids (CS) and steroid-sparing agents such as azathioprine, cyclosporine, and methotrexate. There are numerous articles mentioning long-term adverse effects of these immunosuppressants in adults, but just a few mentioning the same in the pediatric age group. This concise review focuses on the immunosuppressants commonly used for dermatoses in children and gives a comprehensive list of the various indications for use in each and associated adverse effect on long-term use. A comprehensive search was done using PubMed, Google, EMBASE, Cochrane, and MEDLINE on studies published till date on immunosuppressant use in pediatric dermatoses with special emphasis on the safety and adverse effects on long-term therapy. Only English language articles were considered. Thirty-eight articles were found, of which only 28 were selected after removing duplication and articles having no relevant information. Clinical as well as randomized double-blinded or single-blinded controlled trials, open-label studies, retrospective studies, case series, reviews, and case reports on the use of immunosuppressants in pediatric age group, including their long-term adverse effects were screened and a documented evidence was prepared, analyzed and presented in a narrative fashion to highlight the important pediatric indications for the use of the respective immunosuppressant, with special emphasis on the adverse effects on prolonged usage. The review has been divided into two parts for the reader's benefit. Part I consists of CS, azathioprine, and cyclosporine, whereas, Part II consists of methotrexate and mycophenolate mofetil.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"191 - 203"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42321390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Spared Island of normal-looking skin is not a monopoly of dengue rash","authors":"S. Dhar, S. Ganjoo, J. Choudhury","doi":"10.4103/ijpd.ijpd_87_21","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_87_21","url":null,"abstract":"","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"254 - 255"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42608688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chik Sign","authors":"Preeti K. Sheth, R. Vasani","doi":"10.4103/ijpd.ijpd_4_22","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_4_22","url":null,"abstract":"","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"258 - 259"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45835787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.4103/ijpd.ijpd_136_21
Priyanka Hemrajani, B. Sharath Kumar, Mona Sharma
Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families. Materials and Methods: A total of 72 patients were enrolled and 60 patients completed the study. The study instrument included Infants' Dermatitis Life Quality Index and Children's Dermatology Life Quality Index for pediatric patients (5–16 years) and Dermatitis Family Impact Questionnaire (DFI) for family members. Results: Questionnaires were completed in 60 children. The patients had predominantly ichthyosis vulgaris (n = 46), lamellar ichthyosis (n = 10), nonbullous ichthyosiform erythroderma (n = 3), and bullous ichthyosiform erythroderma (n = 1). Male: female ratio was 1:1.5. Large effect on QoL was seen in 77.8% and 66.6% of ichthyosis vulgaris and lamellar, ichthyosis, respectively. Mean score of DFI was 9.94 ± 7.23. Conclusion: The present study reports a poor QoL among pediatric patients suffering from ichthyosis and their families. Psychosocial and mental support is needed for patients and their immediate caregivers/families for this chronic skin disease.
{"title":"Quality of life among pediatric patients and their families suffering from congenital ichthyosis - A cross-sectional study","authors":"Priyanka Hemrajani, B. Sharath Kumar, Mona Sharma","doi":"10.4103/ijpd.ijpd_136_21","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_136_21","url":null,"abstract":"Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families. Materials and Methods: A total of 72 patients were enrolled and 60 patients completed the study. The study instrument included Infants' Dermatitis Life Quality Index and Children's Dermatology Life Quality Index for pediatric patients (5–16 years) and Dermatitis Family Impact Questionnaire (DFI) for family members. Results: Questionnaires were completed in 60 children. The patients had predominantly ichthyosis vulgaris (n = 46), lamellar ichthyosis (n = 10), nonbullous ichthyosiform erythroderma (n = 3), and bullous ichthyosiform erythroderma (n = 1). Male: female ratio was 1:1.5. Large effect on QoL was seen in 77.8% and 66.6% of ichthyosis vulgaris and lamellar, ichthyosis, respectively. Mean score of DFI was 9.94 ± 7.23. Conclusion: The present study reports a poor QoL among pediatric patients suffering from ichthyosis and their families. Psychosocial and mental support is needed for patients and their immediate caregivers/families for this chronic skin disease.","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"221 - 224"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47211749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A few drops may go a long way: Topical timolol in pediatric dermatology","authors":"N. Jain, S. Ganjoo","doi":"10.4103/ijpd.ijpd_63_22","DOIUrl":"https://doi.org/10.4103/ijpd.ijpd_63_22","url":null,"abstract":"","PeriodicalId":13275,"journal":{"name":"Indian Journal of Paediatric Dermatology","volume":"23 1","pages":"260 - 264"},"PeriodicalIF":0.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41975839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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