Chediak-Higashi Syndrome Follow-up

  • Author: Roman Janusz Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 13, 2011
 

Further Outpatient Care

  • Regular monitoring is needed.
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Deterrence/Prevention

  • Hygiene should be meticulous to avoid bacterial infections.
    • The skin should be washed 2 times a day with disinfectant soap to prevent skin infections.
    • Cutting the fingernails to a short length helps to reduce autoinoculation.
  • Drugs that interfere with platelets (eg, acetylsalicylic acid–containing products) should be avoided.
  • Excessive operative blood loss should be anticipated during the operation secondary to quantitative and qualitative defects in platelet function, and certain techniques (eg, epidural anesthesia, intramuscular injections) should be avoided.
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Complications

  • The skin is frequently involved, with pyodermas and deep abscesses.
  • The thrombocytopenia and depletion of coagulation factors lead to petechiae, bruising, and gingival bleeding.
  • Renal function may be impaired because of the involvement of the renal tubular epithelium.
  • The progressive visual loss and the constriction of visual field can occur
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Prognosis

  • This syndrome usually leads to early death from infection or, less commonly, hemorrhage. Intractable respiratory and cutaneous infections usually prove fatal before a child with Chédiak-Higashi syndrome reaches age 10 years. Longer survival is possible, but the lymph nodes, spleen, and liver become enlarged and a malignant lymphoma develops. A few patients have survived to age 20 years.
  • Price et al report a patient with Chédiak-Higashi syndrome whose pregnancy, labor, and delivery were not affected. The infant and placenta were normal.[18]
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Contributor Information and Disclosures
Author

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

Roman Janusz Nowicki, MD, PhD is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, and International Society for Human and Animal Mycology

Disclosure: Nothing to disclose.

Specialty Editor Board

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: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

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

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

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  4. Barbosa MD, Barrat FJ, Tchernev VT, et al. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet. Jul 1997;6(7):1091-8. [Medline].

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

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