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Symptoms of Chediak-Higashi syndrome.
Last reviewed: 04.07.2025
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Complete Chediak-Higashi syndrome includes albinism with photophobia, neurological impairment, recurrent infections, and enterocolitis.
Typically, the first symptoms of Chédiak-Higashi syndrome appear in children under 5 years of age, and often immediately after birth. When collecting anamnesis in such children, it is necessary to pay attention to the presence of depigmented skin from birth (similar to depigmentation in albinism, but with a mosaic distribution of pigment), light hair and blue eyes, the development soon after birth of adenopathy, gingivitis, aphthous stomatitis, hyperhidrosis, miliary rash, jaundice, severe and prolonged pyoderma, recurrent sinopulmonary infections, fever not associated with current infections.
Clinical examination reveals albinism in combination with photophobia, which helps in early diagnosis of the disease. The skin is light, the retina is pale, the iris is transparent. The hair is very light, sometimes silvery-gray, sparse.
Patients with Chediak-Higashi syndrome are susceptible to severe purulent infections that develop against the background of dysfunction of polymorphonuclear leukocytes. Frequently, there are repeated skin infections from superficial pyoderma to deep subcutaneous abscesses that progress slowly and lead to atrophy and scarring of the skin. Most often, the cause of such infectious processes is S. aureus. Deep ulceration of the skin, similar to gangrenous pyoderma, has also been described. Many patients also have severe gingivitis and aphthous stomatitis.
The severity of the disease and its prognosis are usually determined by the acceleration phase described above, which requires emergency immunosuppressive therapy.
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