Histiocytosis a rare disease
Despite the misery it causes, histiocytosis is too rare a disease to have generated substantial research in medical circles.
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News Stories and Articles
Some of the articles presented on this website are accessed through RSS feeds from third-party sources that are not necessarily sourced by or part of Histio UK. While we try to select appropriate feeds to prevent objectionable content from being displayed, the presence of any article does not indicate endorsement or recommendation by Histio UK.
pubmed: histiocytosis[mesh t...
NCBI: db=pubmed; Term=histiocytosis[MeSH Terms]
A case of gastric crystal-storing histiocytosis.
Nihon Shokakibyo Gakkai Zasshi. 2016;113(6):968-74
Authors: Isono Y, Baba Y, Tanaka H, Kumazawa H, Tochio T, Matsuzaki S, Sase T, Saito T, Okano H, Mukai K, Ohashi R
A 54-year-old male patient underwent upper gastrointestinal endoscopy, which revealed a 25-mm brown region in the angular section of the greater curvature of the stomach. The region was histologically determined to be gastric mucosa with an accumulation of histiocytes containing eosinophilic substances in the cytoplasm and chronic inflammatory cell infiltration. Histiocytes were immunohistologically positive for CD68, IgG, and κ. Based on these findings, the patient was diagnosed with gastric crystal-storing histiocytosis comprised of histiocytes phagocytosing IgG-κ-type immunoglobulin. This is a rare disease of which there have been no previous reports that included long-term follow-up. Here, we report the case with a literature review.
PMID: 27264428 [PubMed - indexed for MEDLINE]
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
Clin Chim Acta. 2016 Jun 01;457:8-11
Authors: Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J
Plasma chitotriosidase originates from activated macrophages and is reported to be elevated in many Lysosomal Storage Disorders. Measurement of this enzyme activity has been an available tool for monitoring therapy of Gaucher disease. The degree of elevation of chitotriosidase is useful for differential diagnosis of Gaucher disease and Niemann Pick A/B. However the potential utility of this chitotriosidase assay depends on the frequency of deficient chitotriosidase activity in a particular population. We therefore aim to study the clinical utility of this assay Gaucher and Niemann Pick A/B diseases in the backdrop of chitotriosidase deficiency in our population. The study comprises 173 patients with clinical suspicion of either Gaucher disease (n=108) or Niemann Pick A/B (n=65) and 92 healthy controls. The plasma samples of controls, Gaucher disease, and Niemann Pick A/B showed chitotriosidase deficiency of 12%, 25% and 27% respectively. The degree of elevation of chitotriosidase in Gaucher disease and Niemann Pick A/B patients is 40-326 (11,325.7±6395.4nmol/h/ml) and 7-22 folds (1192.5±463.0nmol/h/ml) respectively. In view of these findings of distinguishable fold elevation of chitotriosidase in Gaucher disease or Niemann Pick A/B, it can be a potential surrogate differential diagnostic marker for these groups of diseases, except in the patients in whom this enzyme is deficient.
PMID: 26975750 [PubMed - indexed for MEDLINE]
Langerhans cell histiocytosis with seborrheic eczema of the scalp and extensive calvarial involvement.
Childs Nerv Syst. 2016 Jul;32(7):1337-41
Authors: Tsutsumi S, Nakajima S, Oda H, Yasumoto Y
INTRODUCTION: Langerhans cell histiocytosis (LCH) is a multisystem disorder of unknown etiology and characterized by accumulation of histiocytes in various tissues.
CASE REPORT: A 3-year-old, previously healthy girl presented with progressive flattening of the parietal convexity for 6 months and seborrheic eczema of the scalp. At presentation, the patient showed no neurological deficit. The eczemas were extensively distributed over the scalp, but not found in any other site of the body. Blood examination revealed a marked increase in soluble interleukin-2 receptor levels. Neuroimages revealed multiple calvarial defects that were replaced by well-demarcated, enhancing extracerebral masses. A biopsy surgery confirmed the diagnosis as LCH.
CONCLUSION: LCH may cause progressive calvarial defects. If seborrheic eczemas are concurrent, they may suggest prompt histological verification and treatments be initiated.
PMID: 26815698 [PubMed - indexed for MEDLINE]
Surgical treatment of Langerhans cell histiocytosis of cervical spine: case report and review of literature.
Childs Nerv Syst. 2016 Jun;32(6):1149-52
Authors: Sadashiva N, Rajalakshmi P, Mahadevan A, Vazhayil V, Rao KN, Somanna S
INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare condition, and even rare is cervical spine involvement.
CASE REPORT: A 9-year-old girl had neck pain, neck tilt and left upper limb weakness, occasional fever and positive family history of tuberculosis. Imaging showed C5 vertebral body collapse with epidural and prevertebral soft tissue collection causing cord and nerve root compression. The patient underwent C5 corpectomy and fusion. Histopathological was suggestive of LCH. She underwent radiotherapy and was asymptomatic at 1-year follow-up.
CONCLUSION: Despite the rarity of the condition, the possibility of LCH should be considered in such cases. When neurologic deficits are present, operative treatment should be considered.
PMID: 26753903 [PubMed - indexed for MEDLINE]
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