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Symptoms of Chediak-Higashi syndrome
Last reviewed: 23.04.2024
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The complete syndrome of Chediak-Higashi includes albinism with photophobia, neurologic disorders, repeated infections and enterocolitis.
Usually the first symptoms of Chediak-Higashi syndrome appear in children under 5 years of age, and often immediately after birth. When collecting anamnesis in such children, attention should be paid to the presence of depigmented skin from birth (similar to depigmentation in albinism but with a mosaic distribution of the pigment), blond hair and blue eyes, development soon after the birth of adenopathy, gingivitis, aphthous stomatitis, hyperhidrosis, miliary rash , jaundice, severe and prolonged pyoderma, repeated sino-pulmonary infections, fever not associated with current infections.
Clinical examination reveals albinism in combination with photophobia, which helps in the early diagnosis of the disease. The skin is light, the retina is pale, the iris is transparent. Hair is very light, sometimes silvery-gray, rare.
Patients with Chediak-Higashi syndrome are prone to severe purulent infections that develop against a background of impaired function of polymorphonuclear leukocytes. Repeated skin infections from superficial pyoderma to deep subcutaneous abscesses occur slowly, leading to atrophy and scarring of the skin. The most common cause of such infectious processes is S. Aureus. Deep skin ulceration, similar to gangrenous pyoderma, is also described. Also, many patients have severe gingivitis, aphthous stomatitis.
The severity of the course and the prognosis of the disease, as a rule, determine the above-described acceleration phase, which requires emergency immunosuppressive therapy.
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