familial histiocytic reticulosis

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an abnormal increase in cells derived from or related to the reticuloendothelial cells.
familial histiocytic reticulosis (histiocytic medullary reticulosis) a fatal hereditary disorder marked by anemia, granulocytopenia, thrombocytopenia, phagocytosis of blood cells, diffuse proliferation of histiocytes, and enlargement of the liver, spleen, and lymph nodes.
midline malignant reticulosis lethal midline granuloma thought to be due to lymphoma.
pagetoid reticulosis a solitary skin lesion of long duration and slow growth characterized histologically by large numbers of abnormal mononuclear cells infiltrating the epidermis with an underlying reactive mixed dermal infiltrate.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

haemophagocytic lymphohistiocytosis, familial, type 1

A rare autosomal recessive disorder (OMIM:267700) characterised by immune dysregulation with hypercytokinaemia, defective NK cell activity, and massive infiltration of several organs by activated lymphocytes and macrophages.

Clinical findings
Fever, hepatosplenomegaly, cytopenia; less commmonly, neurologic defects ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

Molecular pathology
Thought to be caused defects in HPLH1, the HGNC-approved name for the putative gene on cytogenetic band 9q21.3-q22.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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