Griscelli syndrome: a new phenotype with circumscribed pigment loss?
Griscelli syndrome is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, neurological deterioration, hypogammaglobulinemia, and defective cell-mediated immunity. Mutations of three distinct genes have been described in Griscelli syndrome with different phenotypes. The disease is usually fatal by the first decade of life. We report a 20-year-old female with Griscelli syndrome with circumscribed pigment loss over thighs and abdomen in addition to diffuse pigment dilution. An accelerated phase, similar to that described in Chediak-Higashi syndrome, was also observed in our case in the form of neurological deterioration. Survival of the patient beyond the first decade of life in the absence of specific therapy was also a distinctive feature.
Kharkar
Vidya
V
Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai.
Pande
Sushil
S
Mahajan
Sunanda
S
Dwiwedi
Ravishankar
R
Khopkar
Uday
U
D000328:Adult; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics; D000417:Albinism / Q000175:diagnosis / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006529:Hepatomegaly / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D013163:Splenomegaly / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome