A case of silvery hair syndrome: Griscelli syndrome

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.…”

“…Localized to widespread hypopigmented macules/patches have been reported in CHS, ES, and GS2 . 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 .…”

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

“…[ 8 9 ] Close differential diagnoses for silvery/grey hair syndromes are GS type 1 and type 2, Chediak–Higashi syndrome (CHS). [ 2 ] However, except for GS3, all other conditions are associated with variable hematological, neurological, and immunological abnormalities, which were absent in our patient. When it comes to silvery-white hair with dyschromia, familial melanopathy with gigantic melanocytes (FGM) is different, however, it is almost impossible to differentiate them without a genetic analysis and needs further scientific studies.…”

“…There is no curative treatment for GS type 1 other than palliative care. [ 2 ] GS type 2 is caused by the RAB27A gene mutation. Predominant features of GS2 are immunological dysregulation and life-threatening hemophagocytic syndrome caused by activated T cells and macrophages infiltrating various organs (including the brain) and causing massive tissue damage, organ failure, pancytopenia, and (in the absence of immunosuppressive treatment) death thereby requiring early intervention.…”

“…[ 1 ] Three types of this disorder have been described with loss of function of three distinct genes. [ 2 ] The three genes together encode a tripartite protein complex mediating the melanosome transport pathway thereby distributing melanin from melanocytes to the surrounding keratinocytes. Mutation of these genes will result in perinuclear accumulation of melanosome within the melanocytes and is considered to be the hallmark of the disease.…”