Chediak higashi syndrome E70.3

Rare, autosomal recessive variant of oculocutaneous albinoidism with leukocytic immunodeficiency, consecutive susceptibility to infection, hepatosplenomegaly, generalized lymph node enlargement, and impaired melanogenesis (the syndrome is also listed under"tumor-associated genodermatoses").

Autosomal recessive inherited defects of the CHS1 gene (Chediak-Higashi gene 1; gene locus: 1q42.1-q42.2) and consecutive defect of the Chediak-Higashi protein. The mutated CHS1 gene, also known as the "lysomal trafficking regulator gene", leads to a disturbance of lysosome biogenesis with lysosomal giant granules in these patients. In melanocytes, this gene defect leads to giant melanosomes with defective localization of melanosome-specific proteins (tyrosinase, TRP1) in large vesicular structures of the cytoplasm. As a result of impaired immune cell function, a primary immunodeficiency syndrome occurs (Bowman SL et al. 2019).

Signs of immunodeficiency such as pyoderma or respiratory tract infections are already evident in the first months of life.

Skin symptoms can be the first symptom of this systemic disease.

Furthermore, there are neurological currents with peripheral neuropathies, balance disorders and cognitive impairment.

Partial oculocutaneous albinism is regularly found.

Less frequently, lymphohistiocytosis develops.

Blood count: Characteristic granulation of the leukocytes (giant lysosomes) in the blood smear; neutropenia, among others

Bone marrow transplantation is the only possible curative therapy for the leukocyte defect. Use of high doses of aciclovir, gamma globulin, vincristine, s.a. cytostatics, prednisolone in lymphoproliferative phases is described. Splenectomy may be helpful if therapy is resistant. High doses of ascorbic acid (1 g/day) prophylactically against susceptibility to infections.

Otherwise: photoprotective agents (e.g. Anthelios, Eucerin Sun, regular eye monitoring and sunglasses, avoidance and remediation of infections.

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