Silvery gray hair syndromes: An insight into diagnosis

Abstract

Context: Silvery gray hair syndromes consist of three conditions, Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde syndrome (ES), which are rare autosomal recessive diseases presenting in childhood. They have similar skin and hair changes but differ with respect to the other clinical findings. Aim: This retrospective study was taken up to identify the spectrum of silvery gray hair syndromes diagnosed over a period of 10 years (2006-2015) in a super specialty pediatric institute and also to identify characteristic clinical and diagnostic findings. Methods: A total of 17 children diagnosed to have silvery gray hair syndrome over a period of 10 years (2006-2015) at Indira Gandhi Institute of Child Health Hospital, Bengaluru and were studied retrospectively. Complete blood counts, peripheral smear study, and microscopic examination findings of the hair were analyzed. Radiological findings were also considered. Results: The most common syndrome in the study was GS Type II (10 cases) followed by CHS (5 cases), with one case each of GS Type III and ES. Conclusion: This study emphasizes the importance of silvery gray hair as a clue to diagnose these rare genetic disorders with proper clinical examination and simple diagnostic procedures.

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

“…GS3 is rare, although the condition may have been underdiagnosed because there are no other mucocutaneous or systemic abnormalities requiring medical attention, and pigmentary dilution can be subtle to recognize. To the best of our knowledge, there are 20 cases of GS3 reported in literature, of which 15 are confirmed with mutational analysis . Scalp hair microscopy showing large aggregates of pigment granules distributed irregularly along the shaft is characteristic for GS.…”

Griscelli syndrome type 3 with coexistent universal dyschromia—An uncommon association of a rare entity

“…To our knowledge, a total of 27 cases of GS3 have been reported so far. [ 1 2 3 4 5 6 7 8 9 11 12 13 14 15 16 17 ] An association with dyschromia has been reported in a case report by Batrani et al . in 2018.…”