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Granulomatous Diseases
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Albert Alhatem, Robert A. Schwartz, Muriel W. Lambert, W. Clark Lambert
Final comment: Histiocytosis X is a rare disease that is diagnosed based on the presence of histiocytes in the tissue. The diffuse disease develops into a chronic form in 60%, achieve remission in 30%, or result in death in up to 10%.
Unexplained Fever In Hematologic Disorders
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
High fever is common to all forms of histiocytosis. In malignant histiocytosis it is believed to be a constant characteristic and its absence makes the diagnosis unlikely.140 Other common features in both the malignant and the benign reactive disorders are the presence of constitutional symptoms and organomegaly. The overlapping clinical characteristics among disorders of such diverse etiologies may be explained by similarities in behavior of the activated macrophages in both benign and malignant disorders, notably hemophagocytosis, osteolysis, tissue invasion, and release of endogenous pyrogens.133
Other infiltrative conditions
Published in Aimilios Lallas, Enzo Errichetti, Dimitrios Ioannides, Dermoscopy in General Dermatology, 2018
Enzo Errichetti, Aimilios Lallas
Clinical manifestations vary significantly according to the type of histiocytosis.1,2 Specifically, the clinical spectrum of classic LCH may range from asymptomatic/mildly symptomatic forms with lesions limited to one organ (bone, skin, or lymph nodes) (single-system LCH) to symptomatic forms with disseminated/systemic spreading (multisystemic LCH), with the latter being further divided into a variant with low-risk organ involvement (skin, bone, lymph node, and pituitary gland) and another variant with involvement of one or more of the high-risk organs (hematopoietic system, lungs, liver, and spleen).1 Regarding the dermatological picture, classic LCH is typically characterized by small, discrete or confluent, translucent, rose-yellowish papules possibly displaying scaling, crusting, or ulceration and most commonly involving the scalp and trunk; vesicular, pustular, nodular, and ulcerative lesions may also be seen less commonly.1 Self-healing LCH has traditionally been described as an eruption of multiple or solitary elevated, firm, red-brown nodules or flesh-red lesions (similar to infantile angiomas), which then ulcerate or form brown crusts before regressing spontaneously; forms presenting as small reddish-brown crusted papules that may resemble chickenpox are also not uncommon.1
Progressive mucinous histiocytosis treated successfully with thalidomide: a rare case report
Published in Journal of Dermatological Treatment, 2023
Reem Diab, Mohammad Shahidi Dadras, Azadeh Rakhshan, Ali Kaddah, Fahimeh Abdollahimajd
Hereditary progressive mucinous histiocytosis is a very rare disease that occurs most often during childhood or adolescence and has no accompanying systematic manifestations or mucosal involvement (2). It is characterized by multiple asymptomatic red or skin-colored papules, most often appearing on the face and extremities (2). The histopathology for the lesions includes the collection of histiocytes in the dermis with the accumulation of mucin (6). Scattered mast cells are also seen, in addition to increased vascularization in the dermis (7). Under the electron microscope, the histiocytes are large and round or spindle in shape and contain many myelin and zebra bodies in addition to an extensive endoplasmic reticulum (7). It is suggested that HPMH is similar to lysosomal storage disease because of the gradual progression in both diseases and histopathological similarities like intracytoplasmic phospholipid deposition (6).
Update on the classification of T-cell lymphomas, Hodgkin lymphomas, and histiocytic/dendritic cell neoplasms
Published in Expert Review of Hematology, 2019
Akira Satou, N. Nora Bennani, Andrew L. Feldman
ECD is a rare non-Langerhans cell histiocytic disorder seen predominantly in adults (mean age, 55–60 years) with a male-to-female ratio of 3:1 [123,128]. ECD can involve any organ or tissue, including bone (90% of patients), cardiovascular system (50%), central nervous system (50%), lung (40%), retroperitoneal organs (30%), and skin (30%) [123,128,129]. Pathologically, ECD is characterized by infiltration of atypical histiocytes with abundant foamy (xanthomatous) cytoplasm that express CD68, CD163, and Factor XIIIa and are negative for CD1a, langerin, and S100. Because the cells in ECD are identical to those in JXG, consensus guidelines require correlation with the clinical and radiological findings for a diagnosis of ECD [123]. BRAF V600E mutations are present in over 50% of patients [120,130]. Recurrent kinase fusions involving BRAF, ALK, and NTRK1 and recurrent mutations in MAP2K1 and ARAF occur in ECD with wild-type BRAF [131]. Recently, Papo et al. reported that 10.1% (19/189) of patients with ECD and ECD overlapping with LCH had concomitant myeloid neoplasms [132]. Consistent with this finding, hallmark driver mutations of myeloid neoplasms, such as JAK2 V617F and CALR, were detected in peripheral blood or bone marrow mononuclear cells of these patients. Thus, patients with newly diagnosed histiocytoses should be evaluated for concurrent myeloid neoplasms.
Cranio-spinal Rosai Dorfman disease: case series and literature review
Published in British Journal of Neurosurgery, 2019
Shashank S. Joshi, Shilpa Joshi, Girish Muzumdar, Keki E. Turel, Rajan M. Shah, Indoo Ammbulkar, Muhammad Masood Hussain, Kishor A. Choudhari
3) Inherited genetic disorders- Recently two inherited disorders, Auto-immune lympho-proliferative syndrome (ALPS) and Faisalabad histiocytosis (FHC) have been found to be associated with RDD.18 ALPS is a rare inherited disorder which has resulted from defective apoptotic pathway mediated by Fas and Fas ligand. Apparently, this results in failure of apoptosis of mature lymphocytes which tend to collect in the lymphoreticular organs causing organomegaly.18,30 The majority of ALPS cases have mutation of the TNFRSF6 gene which encodes for Fas protein.18,31 FHC is an autosomal recessive disorder presenting with histology similar to RDD. Genetic studies confirmed its linkage to chromosome 10q22.1 and showed mutations in SLC29A3. SLC29A3 gene encodes an intracellular nucleotide transporter (hENT3). The exact mechanism is not known but hENT3 is supposed to alter apoptotic pathways.18,32