Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, the commonest sites of involvement being the long bones, skin, orbit, pituitary and retroperitoneum. Breast involvement is rare, with only four reported cases in the English literature. We present a case of a 78-year-old female presenting with bilateral clinically malignant breast masses, with mammographic and ultrasound findings suggestive of locally advanced bilateral breast cancer. Core biopsies from both breasts showed identical features, with a diffuse xanthomatous infiltrate with scattered Touton-type giant cells and a patchy lymphocytic infiltrate. The cells were CD68 positive, and negative for S100, CD1a and a broad panel of cytokeratins. The patient has a background history of cerebrovascular disease with carotid artery stenosis, and subsequently developed rapid restenosis after carotid endarterectomy. With the combined clinical history and classic histological findings in the breast, a diagnosis of Erdheim-Chester disease was made. This is the fifth case report of Erdheim-Chester disease involving the breast, and only the second case with breast lesions as the presenting symptom. Perivascular infiltration is also a rare but recognized presentation of Erdheim-Chester disease. Histiocytic proliferations including ECD can mimic breast carcinoma clinically, radiologically, and histologically, and should be considered in the differential diagnosis of breast mass lesions.
 ...
PMID:Erdheim-chester disease presenting as bilateral clinically malignant breast masses. 2021 77

Histiocytosis is characterized by proliferation of cells from the mononuclear phagocyte system, and may be divided into Langerhans cell histiocytosis (LCH) and non-Langerhans cell histiocytosis (including Erdheim-Chester disease [ECD]). While diabetes insipidus (DI) is the most common hypothalamic-pituitary consequence, anterior pituitary deficiencies are less known. This study analyzed the frequency and progression of pituitary hormone deficiencies and the radiographic findings in 9 patients (7 with LCH and 2 with ECD) with hypothalamic-pituitary (HP) axis. Eighty-nine percent of patients had DI (62% at diagnosis), and 78% had one or more anterior pituitary deficiencies (71% at diagnosis). HP involvement is relatively common in patients diagnosed with histiocytosis and hormone deficiencies may be present at diagnosis or appear gradually during the course of disease. Regular monitoring of these patients is recommended.
...
PMID:Endocrine changes in histiocytosis of the hypothalamic-pituitary axis. 2543 8

Non-Langerhans cell histiocytosis (N-LCH) summarizes a group of rare diseases with different clinical presentations, pathogenesis and morphology. These include primary cutaneous N-LCH, cutaneous N-LCH with systemic involvement, and primary extracutaneous systemic forms with occasional cutaneous involvement.The juvenile (JXG) and non-juvenile xanthogranuloma (N-JXG) family of histiocytoses are N-LCH: the JXG family consisting of the JXG (cutaneous), xanthoma disseminatum (cutaneous and systemic) and Erdheim-Chester disease (ECD; systemic); and the N-JXG family consisting of the solitary reticulohistiocytoma (cutaneous), multicentric reticulohistiocytosis (cutaneous and systemic) and Rosai-Dorfman disease (RDD; systemic).ECD is a clonal disorder from the JXG family of N-LCH; RDD is a reactive proliferative entity from the non-juvenile xanthogranuloma family of N-LCH.ECD and RDD N-LCH are rare disorders, which are difficult to diagnose, with multi-organ involvement including bone and systemic symptoms, and which respond to therapy in an unpredictable way.The key to successful therapy is accurate identification at tissue level and appropriate staging. Patients should be observed and monitored in a long-term pattern. Prognosis depends on disease extent and the organs involved; it is generally good for RDD disease and variable for ECD. Cite this article: EFORT Open Rev 2018;3:381-390. DOI: 10.1302/2058-5241.3.170047.
 ...
PMID:Rare diseases of bone: Erdheim-Chester and Rosai-Dorfman non-Langerhans cell histiocytoses. 3003 19