Chédiak‐Higashi Syndrome: Report of a Case and Review of the Japanese Literature

Abstract

We report the case of a Japanese female infant with Chédiak-Higashi syndrome born to consanguineous parents. At birth she had fair skin but, when she was three months old, marked hyperpigmentation of the sun-exposed skin areas developed. Microscopic examination of blood and electron microscopic examination confirmed the diagnosis. She enjoyed good health until she was two years old when she had pneumonia with marked hepatosplenomegaly. It is important for dermatologists and pediatricians to be aware of the skin manifestations of this disease because hyperpigmentation after sun exposure may be a characteristic, initial feature of this condition.

Chédiak-Higashi Syndrome: An Accelerated Phase with Hereditary Elliptocytosis: Case Report and Review of the Literature

“…11,22 The "accelerated phase" is believed to be a "malignant" transformation of the disease as a complication developing later, and may occur shortly after birth or may be delayed for years and invariably lead to death. 13 Fukai et al 29 reported a case in a Japanese female infant of consanguineous parents presenting with hyperpigmentation of sun-exposed areas of skin, who enjoyed good health until 12 years of age, when she developed pneumonia with hepatosplenomegaly.…”

Chédiak-Higashi syndrome with novel gene mutation

“…Our patient cannot be considered as having partial albinism, because he had scattered areas of hypopigmentation and hyperpigmentation. Fukai et al ,8 had previously reported a case of CHS with hyperpigmentation on the face. This finding could be attributed to failure of degradation of melanosomes or melanosome complexes.…”

Unusual Presentation of Griscelli Syndrome: Neurological Involvement without Hematologic Manifestations

“…The hallmark of CHS is the presence of giant intra-cytoplamic granules in virtually all granulated cells, which is never observed in GS10. In CHS, the hair shaft also contains a typical pattern of uneven accumulation of large pigment granules but in GS the clusters of melanin pigment on the hair shaft are six times larger than in CHS [10]. Elejalde syndrome, like GS has presence of spotty hair pigmentation, but incomplete melanization of melanosomes in skin, and no immunodeficiency [12].…”