familial histiocytic reticulosis


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reticulosis

 [rĕ-tik″u-lo´sis]
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.

familial histiocytic reticulosis

Etymology: L, familia, household; Gk, histion, web, kytos, cell; L, reticulum, little net; Gk, osis, condition
a hereditary disease, transmitted as an autosomal-recessive trait, characterized by anemia, granulocytopenia, and thrombocytopenia. Phagocytosis of blood cells and infiltration of bone marrow by histiocytes commonly cause death in childhood. Also called familial hemophagocytic reticulosis.

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.
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