Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report

Candoni, Anna; Grimaz, Stefania; Doretto, Paolo; Fanin, Renato; Falcomer, F.; Bembi, Bruno

doi:10.1007/s002770100354

Cited by 18 publications

(1 citation statement)

References 9 publications

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“…In our patient, heterozygosis for Gly247Ser and Arg610del mutations caused a mild phenotype of type B NPD [4]. Although there have been reports of some cases of sea-blue histiocytosis associated with NPD diagnosed in adults [5], isolated thrombocytopenia without significant splenomegaly in adulthood is a very unusual presentation. This case highlights the importance of examining the bone marrow in patients with mild chronic thrombocytopenia without a well-established diagnosis.…”

Section: Figmentioning

confidence: 92%

Sea-Blue Histiocytosis in Bone Marrow of a Patient with Chronic Thrombocytopenia

Bermejo

Prieto²,

Arcos³

2014

Acta Haematol

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Section: Figmentioning

confidence: 92%

Sea-Blue Histiocytosis in Bone Marrow of a Patient with Chronic Thrombocytopenia

Bermejo

Prieto²,

Arcos³

2014

Acta Haematol

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The Erlenmeyer flask bone deformity in the skeletal dysplasias

Faden

Krakow

Ezgu

et al. 2009

American J of Med Genetics Pt A

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Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988–2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick–Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD.

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Knochenmarksmanifestation beim Morbus Niemann-Pick

Kvasnicka

Thiele

2002

Der Pathologe

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Niemann-Pick disease is an inherited autosomal recessive lysosomal storage disorder of sphingolipids that results in an accumulation of sphingomyelin in the cells of the reticulo-histiocyte system due to an enzyme defect. Type B of this disorder is characterised by a late onset and a variable manifestation of clinical symptoms. In the presented case a bone marrow biopsy was performed because of a pancytopenia and splenomegaly. A suspicious histiocyte proliferation was found in the bone marrow, showing typically large macrophages with foamy cytoplasm. Enzymatic analysis of a fibroblast culture confirmed the diagnosis of Niemann-Pick disease type B, with reduced activity of acid sphingomyelinase. A broad spectrum of disorders is associated with an increase in histiocytic cells within the bone marrow. In particular the differential diagnosis includes typical storage diseases, such as Gaucher's disease, and other metabolic disorders. Furthermore, reactive conditions with secondary increase in bone marrow macrophages have to be considered. In accordance with the presented patient the most common causes of histiocytic disorders involving the bone marrow are reviewed.

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Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report

Cited by 18 publications

References 9 publications

Sea-Blue Histiocytosis in Bone Marrow of a Patient with Chronic Thrombocytopenia

Sea-Blue Histiocytosis in Bone Marrow of a Patient with Chronic Thrombocytopenia

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Knochenmarksmanifestation beim Morbus Niemann-Pick

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