Silvery hair with speckled dyspigmentation: Chediak-Higashi syndrome in three indian siblings

Abstract

Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated.

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 .…”

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

“…Histology in CHS is characterized by a reduction or even absence of melanin pigment in hair follicles and the basal layer, and the presence of few large pigment granules, corresponding to giant melanosomes [ 15 ]. Light microscopic shows evenly distributed melanin granules of regular diameter, larger than those of normal hair [ 16 ]. Large cytoplasmic inclusions in cutaneous mast cells are observed with toluidine blue staining [ 17 ], and giant melanosomes and degenerating cytoplasmic residues in melanocytes are found with electron microscopy [ 18 ].…”

Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

“…Most patients develop the accelerated phase of CHS 9,13 , in which HLH is characterized by nonmalignant lymphohistiocytic infiltration of multiple organs, such as liver, spleen, and bone marrow 15 . Similar to lymphoma, this phase is promoted by viral infections, with emphasis on the Epstein-Barr virus 8 , leading to pancytopenia, thrombocytopenia, coagulopathy, neutropenia, jaundice, anemia, hepatosplenomegaly, and lymphadenopathy, which can result in multiple organ failure 5,12 .…”

“…Although melanocytes produce melanin, this pigment is stored in melanosomes, which are larger in CHS -therefore, pigmentary changes are believed to occur as a result of mutations that regulate the transport of intracellular organelles, leading to an inefficient transfer of melanosomes to keratinocytes, thus preventing the release of melanin 13,22 . Nevertheless, the literature has described unusual cases of hyperpigmentation in areas exposed to sunlight 9,16,22,23 .…”

“…CHS symptoms are clear, occurring soon after birth or in the course of childhood, in children under 5 years of age 8,9 , as a result of changes in the function of neutrophils, natural killer (NK) cells, platelets, and melanocytes 5 . It is a multisystem disease in which severe immunological defects are presentmainly in neutrophils 10 -, which allows the classification of the disease as primary immunodeficiency 11 .…”