Griscelli syndrome (GS) is a rare autosomal recessive disorder
characterized by partial albinism, hepatosplenomegaly,
pancytopenia, hepatitis, immunologic abnormalities, and
lymphohistiocytosis.1 Here, we describe a case of Griscelli syndrome
associated with hemophagocytic lymphohistiocytosis (HLH).
A female, aged 2 months, was transferred to our hospital with thrombocytopenia,
s/p splenectomy, hyperbilirubinemia, and atypical
myelodysplasia. She was born at 36 weeks gestation by C-section for
abnormal fetal heart sounds. On physical exam, she had bronze,
jaundiced skin with scleral icterus. Her hair was silvery-gray with
a metallic sheen on the frontal scalp and brown on the temporal
and occipital scalp (Figure 1). She had retention hyperkeratosis
of the frontal scalp. Her liver was palpated 3 cm to 4 cm below
the costal margin. Total leukocyte count was 41000 per mm3 and
platelet count was 18,000 per mm3. Total bilirubin was 4.7 mg per
dL, AST was 235 U per L, and ALT was 106 U per L. Ferritin was
1394 ng per mL (NL: 7-91). She was diagnosed with HLH based
on the presence of fever, history of splenomegaly, cytopenias of 2
of 3 lineages in the peripheral blood, elevated ferritin, and soluble
IL2 >2400 units per mL. Light microscopy showed large clumps of
melanin granules along the hair shaft, consistent with Griscelli syndrome
(Figure 2). The patient was started on 8 weeks of induction
chemotherapy with dexamethasone, etoposide, and cyclosporine.
There have been less than 100 reported cases of Griscelli syndrome.
Most patients have been diagnosed between 4 months
and 7 years of age, with a mean age of about 17 months.1 Type 1
GS patients have neurologic symptoms and mutations in MYO5A.
Prognosis depends on the severity of neurologic manifestations.
Type 2 GS patients have mutations in RAB27A and hemophagocytic
syndrome, with abnormal T-cell and macrophage activation.
This type has a grave prognosis if untreated. Type 3 GS patients
have mutations in melanophilin and are characterized by partial
albinism.2 This type does not pose a threat to those affected.
Our patient has type 2 Griscelli syndrome, and following the
8 week induction of steroids and immunosuppressants, which
can delay hyperactivation of lymphocytes and macrophages,3 she will proceed to stem cell/bone marrow transplant, which
is used to treat HLH. The finding of silvery-gray hair, hepatosplenomegaly,
and immune deficiency should alert clinicians to
consider GS, since an early diagnosis may be life saving.
The authors have disclosed no relevant conflicts of interest.
- Mehdizadeh, Mahshid. Griscellli Syndrome: A Case Report. Pediatric Hematology
and Oncology. 2007;24:525-529.
- Al-Idrissi E, et al. Premature birth, respiratory distress, intracerebral hemorrhage,
and silvery-gray hair: differential diagnosis of the 3 types of Griscelli
syndrome. J Pediatr Hematol Oncol. 2010;32(6):494-496.
- Malhotra, et al. Gricelli Syndrome. JAAD. 2006;55:337-340.
Address for Correspondence
Porcia B. Love MDDuke Department of Dermatology Phone: (919) email@example.com