Chediak-higashi syndrome – a report of two cases with unusual hyperpigmentation of the face

Abstract

Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.Key Words: Chediak-Higashi syndrome, Albinism ÖZChediak-Higashi sendromu, otozomal resesif geçiş gösteren, kısmi okülokutanöz albinism, tekrarlayan bakteriyel enfeksiyonlar, fotofobi vb klinik bulgularla karakterize, lökosit fonksiyonunda niteliksel kusura bağlı nadir bir hastalıktır. Nötrofiller ve öncü hücrelerinde dev intrasitoplazmik granüller tanısal bulgusudur. Burada, sıradışı olarak yüz ve ekstremitelerinde hiperpigmentasyon ile kendini gösteren iki kardeşte gözlenen Chediak-Higashi sendromu sunulmaktadır.

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

“…Skin color can vary from milky-white to slate gray, and hypopigmentation is often appreciated only by comparison with other family members. Skin hypopigmentation is associated with increased risk of sun damage and skin cancer; uncommonly, CHS may present with hyperpigmentation, leading to suspicion of other photosensitivity diseases characterized by hyperpigmentation with consequent delay in diagnosis [ 15 ]. Hair color may appear blonde to light brown, often with a distinguished silvery or metallic sheen.…”

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

“…Tanning or diffuse bronze‐like hyperpigmentation on sun‐exposed sites is often seen in ES; but rarely also in CHS, GS2, and GS3 . Speckled or mottled hyperpigmented and hypopigmented macules are specifically reported in CHS . Also, in some case reports of ES, clinical images show similar mottled or speckled dyschromatosis, although in the text, it is mentioned as hyperpigmentation .…”

Chediak-Higashi Syndrome in Accelerated Phase: A Rare Case Report with Review of Literature

“…Uyama et al suggested two distinct clinical presentations: (1) the more commonly recognized childhood form with a typical history of recurrent infections leading to early death or an accelerated phase and (2) the rare adult type in which neurological defects resembling parkinsonism, dementia or spinocerebellar degeneration and peripheral neuropathy dominate with a lack of increased susceptibility to infections [5].…”