Open AccessSilvery hair with speckled dyspigmentation: Chediak-Higashi syndrome in three indian siblings
Author(s) -
Chekuri Raghuveer,
Sambasiviah Chidambara Murthy,
Mallur N Mithuna,
Tamraparni Suresh
Publication year - 2015
Publication title -
international journal of trichology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 22
eISSN - 0974-9241
pISSN - 0974-7753
DOI - 10.4103/0974-7753.167462
Subject(s) - chédiak–higashi syndrome , oculocutaneous albinism , albinism , dermatology , medicine , skin biopsy , hypopigmentation , pathology , pigmentation disorder , hair shaft , biopsy , biology , genetics , hair follicle
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.