Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

Henkes, Martin; Finke, Juergen; Warnatz, Klaus; Ammann, Sandra; Stadt, Udo zur; Janka, Gritta; Brugger, Wolfram

doi:10.1007/s00277-014-2284-9

Cited by 5 publications

(7 citation statements)

References 10 publications

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“…It is important to note that neurologic involvement might be present even in the absence of systemic HLH, as in our case, 14,30,31 or hypopigmentation 14,26 and might even debut in adulthood. 32 Neuroimaging usually reports hyperintense lesions in T2weighted or FLAIR sequences, sometimes mimicking demyelinating diseases; patients might be initially diagnosed with acute disseminated encephalomyelitis or multiple sclerosis. 14,32 CSF analysis may show pleocytosis or elevated protein levels but can also be normal.…”

Section: Griscelli Syndrome and Neurologic Manifestationsmentioning

confidence: 99%

“…32 Neuroimaging usually reports hyperintense lesions in T2weighted or FLAIR sequences, sometimes mimicking demyelinating diseases; patients might be initially diagnosed with acute disseminated encephalomyelitis or multiple sclerosis. 14,32 CSF analysis may show pleocytosis or elevated protein levels but can also be normal. Neurologic lesions in GS2 when studied on histopathology reveal to be caused by lymphohistiocytic infiltration and might show granulomas.…”

Section: Griscelli Syndrome and Neurologic Manifestationsmentioning

confidence: 99%

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Diagnostic and therapeutic caveats in Griscelli syndrome

et al. 2021

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Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse

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Section: Griscelli Syndrome and Neurologic Manifestationsmentioning

confidence: 99%

Section: Griscelli Syndrome and Neurologic Manifestationsmentioning

confidence: 99%

Diagnostic and therapeutic caveats in Griscelli syndrome

et al. 2021

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“…This includes PRF1, coding for perforin, or genes involved in the transport or exocytosis of perforin-containing lytic granules (Sepulveda and de Saint Basile 2017). Immunodeficiency syndromes, commonly associated with albinism, also predispose to HLH (Henkes et al 2015). Clinically, a triad consisting of prolonged fever, hepatosplenomegaly and pancytopenia is common.…”

Section: Introductionmentioning

confidence: 99%

Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 cases of a nationwide German registry

Birndt

Schenk

Heinevetter

et al. 2020

J Cancer Res Clin Oncol

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Purpose Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome emerging from a deregulated immune response due to various triggers. In adults, systematic data are sparse, which is why recommendations on diagnosis and management have been adopted from pediatric guidelines. A nationwide clinical registry with associated consulting service as collaborative initiative of HLH-specialized pediatricians and hematologists was initiated to better characterize HLH in adults. Methods Patients with proven or suspected HLH were registered by 44 institutions. Both HLH-2004 diagnostic criteria and the HScore (www.saint antoi ne.aphp.fr/score /) were used to confirm HLH diagnosis. Data referring to underlying disease, treatment, outcome, clinical presentation and laboratory findings were recorded. Results The study included 137 patients and provides the first systematic data on adult HLH in Germany. Median age was 50 years with a wide range (17-87 years), 87 patients (63.5%) were male. Most common triggering diseases were infections in 61 patients (44.5%) and malignancies in 48 patients (35%). Virtually all patients had elevated ferritin concentrations, and 74% had peak concentrations greater than 10,000 µg/l. At time of analysis, 67 of 131 patients (51%) had died. Patients with malignancy-associated HLH had the shortest median survival (160 days), however no statistically significant difference between subgroups was observed (p = 0.077). Platelets under 20*10 9 /l and low albumin concentrations (< 20 g/l) were associated with poor overall and 30-day survival. Conclusion Close multidisciplinary case consultation and cooperation is mandatory when treating adult HLH patients. Early contact with reference centers is recommended, especially in relapsing or refractory disease.

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“…has been a single case report of late-onset central nervous system manifestations of HLH described in a 24-year old female with GS2. 19 Silver hair should prompt examination of hair fibers under light microscopy for melanosome clumping, bloodwork to rule out HLH, analysis of HLH genes and screening for neurological involvement.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2

Gotesman

Ramien

Armour

et al. 2020

Pediatric Dermatology

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Griscelli syndrome is a rare autosomal recessive pigmentary dilution syndrome affecting the hair and skin that is categorized into 3 distinct subtypes. 1 Griscelli syndrome type 1 is caused by pathogenic variants in the MYO5A gene. 2 Patients have silver hair, hypopigmented skin, severe neurological impairment, and normal immune systems. Griscelli syndrome type 2 (GS2) is caused by pathogenic variants in RAB27A. 3 Patients with GS2 also have silver hair, light skin, and typically normal neurological development but immune deficiency and dysregulation leading to life-threatening hemophagocytic lymphohistiocytosis (HLH). Griscelli syndrome type 3, associated with the MLPH gene, is characterized by silver hair and light skin without neurological or immune system involvement. 4 Hemophagocytic lymphohistiocytosis is an acquired or inherited overactivation of the immune system, often provoked by infection. 5 It can be diagnosed in symptomatic patients by identifying pathogenic variants in HLH genes such as RAB27A and UNC13D, or if at least 5 of these 8 criteria are met: fever, splenomegaly, cytopenia of 2 or more cell lines, hypertriglyceridemia or hypofibrinogenemia, hemophagocytosis evident on bone marrow biopsy, spleen or lymph nodes, reduced natural killer (NK) cell activity, elevated serum ferritin, and elevated soluble interleukin-2 (sIL-2, sCD25) levels. The natural course of familial HLH is rapidly fatal with median survival between 2 to 3 months. The only curative therapy is hematopoietic stem cell transplant (HSCT). Here, we present a girl with GS2 associated with compound heterozygous variants in the RAB27A gene. At the time of writing she is 5 years old and has developed one episode of uncomplicated HLH and is currently awaiting HSCT.

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Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

Cited by 5 publications

References 10 publications

Diagnostic and therapeutic caveats in Griscelli syndrome

Diagnostic and therapeutic caveats in Griscelli syndrome

Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 cases of a nationwide German registry

Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2

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