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Vaishnavi S, Speaker at Dermatology Conferences
JJMMC, India
Title : Griscelli syndrome : a rare case report


Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair) with  the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes.Three variants of disease have been found based on  genetic mutations. MYO5A, RAB27A and MLPH are the genes mutated leading to Griscelli syndrome type 1,2 and  3 respectively. Griscelli syndrome type 2 is the most common and if untreated leads to most severe presentation. Internationally there are 150 cases have been reported. Here we describe 5 year old male child who had recurrent infections, silvery grey hair with features of hemophagocytic lymphohistiocytosis without any features of psychomotor retardation. Child had pallor, silvery grey hairs, eyebrows and eyelashes.  Child had white colored multiple patches over left part of abdomen which appeared post homeotherapy. Child had hepatomegaly of 7cms and splenomegaly of 10cms. Microscopic hair examination showed irregular clumps of melanin pigment along the shaft. Routine blood investigations revealed pancytopenia. Peripheral blood smear showed Microcytic hypochromic anemia without any giant cytoplasmic granules in leucocytes. Child had increased serum  ferritin levels(>1650ng/ml) with hypertriglyceridemia(286mg/dl).

As a part of treatment to control acute infection IVIG was given and the  patient’s condition  was  improved. Following which patient was started  on Cyclosporine along with daily dose of steroids.  Supportive therapy was given(blood products). Parents were counselled regarding the condition of the patient As the patient needs hematopoietic stem cell transplantation .


Dr. Vaishnavi S studied MBBS at ESICMC & PGIMSR, Bangalore, and graduated as MBBS in 2019. She then joined JJM Medical College at Davanagere, Karnataka for pursuing MD in Dermatology.She has published about 4 research articles in SCI(E) journals and has about 6 presentations in State and National conferences.