Chediak-Higashi Syndrome Questions & Answers

1. Bhardwaj N, Gowda VK, Srinivas SM, Nanjundappa N. Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome. Indian Pediatr. 2019 Jun 15. 56 (6):501-503. [QxMD MEDLINE Link].

2. Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, et al. The neuropsychological phenotype of Chediak-Higashi disease. Orphanet J Rare Dis. 2019 May 6. 14 (1):101. [QxMD MEDLINE Link].

3. Demirkiran O, Utku T, Urkmez S, Dikmen Y. Chediak-Higashi syndrome in the intensive care unit. Paediatr Anaesth. 2004 Aug. 14(8):685-8. [QxMD MEDLINE Link].

4. Kanjanapongkul S. Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature. J Med Assoc Thai. 2006 Apr. 89(4):541-4. [QxMD MEDLINE Link].

5. Maaloul I, Telmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T, et al. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. Hematol Oncol Stem Cell Ther. 2015. Epub ahead of print:[QxMD MEDLINE Link]. [Full Text].

6. Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood. 2000 Feb 1. 95(3):979-83. [QxMD MEDLINE Link].

7. Bowman SL, Bi-Karchin J, Le L, Marks MS. The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases. Traffic. 2019 Jun. 20 (6):404-435. [QxMD MEDLINE Link].

8. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. 2008 Jan. 15(1):22-9. [QxMD MEDLINE Link].

9. Westbroek W, Adams D, Huizing M, ei al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. 2007 Nov. 127(11):2674-7. [QxMD MEDLINE Link].

10. Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, et al. Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response. Orphanet J Rare Dis. 2014 Dec 21. 9:212. [QxMD MEDLINE Link]. [Full Text].

11. Mottonen M, Lanning M, Baumann P, Saarinen-Pihkala UM. Chediak-Higashi syndrome: four cases from Northern Finland. Acta Paediatr. 2003 Sep. 92(9):1047-51. [QxMD MEDLINE Link].

12. Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J Am Acad Dermatol. 2003 Nov. 49(5 Suppl):S244-6. [QxMD MEDLINE Link].

13. Maaloul I, Talmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T4, et al. Chediak-Higashi resenting in accelerated phase: A case report and literature review. Hematol Oncol Stem Cell Ther. 2016. 9(2):71-5. [QxMD MEDLINE Link]. [Full Text].

14. Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V. Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis. 2014. 9:132. [QxMD MEDLINE Link]. [Full Text].

15. Imran T, Zafar L, Rehan M, Nasir A, Tariq PA, Batool I. Chediak-Higashi syndrome presenting in accelerated phase. J Coll Physicians Surg Pak. 2012. 22:539-41. [QxMD MEDLINE Link].

16. Wang Z, Liang Y, Xu Z. Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome. J Pediatr. 2019 Jun. 209:255-255.e1. [QxMD MEDLINE Link].

17. Thumbigere Math V, Rebouças P, Giovani PA, Puppin-Rontani RM, Casarin R, Martins L, et al. Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response. JDR Clin Trans Res. 2018 Jan. 3(1):35-46. [QxMD MEDLINE Link].

18. Bailleul-Forestier I, Monod-Broca J, Benkerrou M, Mora F, Picard B. Generalized periodontitis associated with Chediak-Higashi syndrome. J Periodontol. 2008 Jul. 79(7):1263-70. [QxMD MEDLINE Link].

19. Valente NY, Machado MC, Boggio P, et al. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chediak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo). 2006 Aug. 61(4):327-32. [QxMD MEDLINE Link].

20. Wolf J, Jacobi C, Breer H, Grau A. [Chediak-Higashi syndrome]. Nervenarzt. 2006 Feb. 77(2):148, 150-2, 155-7. [QxMD MEDLINE Link].

21. Liang JS, Lu MY, Tsai MJ, Lin DT, Lin KH. Bone marrow transplantation from an HLA-matched unrelated donor for treatment of Chediak-Higashi syndrome. J Formos Med Assoc. 2000 Jun. 99(6):499-502. [QxMD MEDLINE Link].

22. Trottestam H, Beutel K, Meeths M, et al. Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009 Feb. 52(2):268-72. [QxMD MEDLINE Link].

23. Introne WJ, Westbroek W, Golas GA, Adams D. Chediak-Higashi Syndrome. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. GeneReviews®[Internet]. Seattle: Seattle (WA): University of Washington; 2009 Mar 3 [updated 2015 Jan 15]. 1993-2018. [Full Text].

24. Sayanagi K, Fujikado T, Onodera T, Tano Y. Chediak-Higashi syndrome with progressive visual loss. Jpn J Ophthalmol. 2003 May-Jun. 47(3):304-6. [QxMD MEDLINE Link].

Roman J Nowicki, MD, PhD Professor and Chairman, Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland

Roman J Nowicki, MD, PhD is a member of the following medical societies: American Academy of Dermatology, European Academy of Allergy and Clinical Immunology, European Academy of Dermatology and Venereology, International Society for Human and Animal Mycology, International Society of Dermatology, Polish Dermatological Society, Polish Society of Allergology

Disclosure: Nothing to disclose.

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

• Print this section
• Print the entire contents of
• Print the entire contents of article