دورية أكاديمية
Case series on Silvery Hair Syndromes: Single Center Experience.
| العنوان: | Case series on Silvery Hair Syndromes: Single Center Experience. |
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| المؤلفون: | Siddiahgari S; Department of Pediatric Hematology Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Soma SK; Department of Pediatric Hematology Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Penmetcha C; Department of Dermatology, Care Hospital, Banjara Hills, Hyderabad, Telangana, India., Vaddadi S; Department of Pediatric Hematology Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Bandi V; Department of Pediatric Hematology Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India., Lingappa L; Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India. |
| المصدر: | Indian journal of dermatology [Indian J Dermatol] 2022 Mar-Apr; Vol. 67 (2), pp. 164-168. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Medknow Publications Country of Publication: India NLM ID: 0370750 Publication Model: Print Cited Medium: Internet ISSN: 1998-3611 (Electronic) Linking ISSN: 00195154 NLM ISO Abbreviation: Indian J Dermatol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: Mumbai : Medknow Publications Original Publication: Calcutta : Indian Association of Dermatologists, Venerologists and Leprologists, West Bengal Branch. |
| مستخلص: | Background: Silvery Hair Syndromes (SHS), an autosomal recessive inherited disorder, includes Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Hermansky-Pudlak syndrome (HPS), and Elejalde syndrome. Associated immunological and neurological defects and predilection for hemophagocytic lymphohistiocytosis (HLH) makes them a distinctive entity in pediatric practice. Thorough clinical examination, bedside investigations such as peripheral blood smear (PBS) and hair microscopy, and bone marrow (BM) examination are inexpensive and reliable diagnostic tools. Methods: We report 12 cases with SHS (CHS, n = 06; GS, n = 04; HPS, n = 02). Results: 8 out of 12 SHS children (CHS-05, GS-03) presented with HLH. Out of 5 cases of CHS with HLH, 2 died, 3 rd is stable post-chemotherapy; 4 th completed chemotherapy, underwent matched related hematopoietic stem cell transplant (HSCT), and is stable 8 months off treatment. The 5 th child completed chemotherapy and is in process of transplant. One CHS child without HLH is thriving without any treatment. Of the 4 GS cases, 3 presented with HLH and received chemotherapy (HLH 2004 protocol). One lost follow-up after initial remission; another had recurrence 7 months off treatment and discontinued further treatment. The third child had recurrence 1.5 years after initial chemotherapy; HLH 2004 protocol was restarted followed by HSCT from matched sibling donor; is currently well, 2.5 years post-transplant. One child with GS had neurological features with no evidence of HLH and did not take treatment. Of 2 children with HPS, one presented with severe sepsis and the other with neurological problems. They were managed symptomatically. Conclusion: In SHS with HLH, chemotherapy followed by allogeneic hematopoietic stem cell transplantation is a promising curative option. Competing Interests: There are no conflicts of interest. (Copyright: © 2022 Indian Journal of Dermatology.) |
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| فهرسة مساهمة: | Keywords: Chediak–Higashi syndrome; Griscelli syndrome; Hermansky–Pudlak syndrome; hair examination; peripheral blood smear; silvery hair |
| تواريخ الأحداث: | Date Created: 20220912 Latest Revision: 20220913 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9455113 |
| DOI: | 10.4103/ijd.IJD_723_20 |
| PMID: | 36092238 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1998-3611 |
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| DOI: | 10.4103/ijd.IJD_723_20 |