Histiocytic disorders of children and adults

Half-title......Page 3
Title......Page 5
Copyright......Page 6
Contents......Page 7
List of contributors......Page 9
Preface......Page 13
1 Histiocytic disorders of children and adults: introduction to the problem, overview, historical perspective and epidemiology......Page 15
Langerhans cell histiocytosis......Page 18
Historical aspects of LCH......Page 19
Age and gender......Page 20
Genetic and ethnic factors......Page 21
Risk factors for LCH......Page 22
Historical perspectives on HLH......Page 23
Conclusion......Page 24
REFERENCES......Page 25
Introduction......Page 28
Langerhans cell histiocytosis – the prototype......Page 29
Bone and adjacent soft tissue......Page 31
Skin......Page 34
Lymph node......Page 38
Liver......Page 40
Central nervous system......Page 42
Lung......Page 44
Gastrointestinal tract......Page 46
Thymus......Page 47
Sites at which LCH is not found......Page 48
REFERENCES......Page 49
Heterogeneity of the MPS......Page 54
Endocytosis......Page 56
Antigen presentation......Page 58
Regulatory functions......Page 59
Phenotypic heterogeneity of macrophages......Page 62
Phenotypic heterogeneity of DC......Page 63
Criteria to distinguish DC from macrophages: is this distinction real?......Page 65
Heterogeneity in the origins of DC and macrophages......Page 66
Concluding remarks......Page 70
REFERENCES......Page 71
Phenotypic characterisation of LCH cells......Page 80
The immune function of LCH cells......Page 82
The role of cytokines in LCH......Page 83
The role of chemokines in LCH......Page 85
Cell-cycle regulation and proliferation in LCH......Page 87
LCH: A clonal proliferative disease......Page 89
LCH: A role for viruses?......Page 90
LCH: A reactive or neoplastic disease?......Page 91
REFERENCES......Page 92
5 The genetics of Langerhans cell histiocytosis......Page 97
Family studies in LCH......Page 98
Twin study......Page 99
Familial clustering of LCH......Page 100
Genetic models to explain 'familial LCH'......Page 103
Chromosome studies in LCH......Page 104
Association between LCH and genetic polymorphism......Page 105
REFERENCES......Page 106
Bone......Page 109
Ear, nose and throat......Page 117
Endocrine involvement......Page 119
Blood and bone marrow......Page 123
Lung and airways......Page 124
Liver and bile ducts......Page 127
Spleen......Page 128
Gastrointestinal tract......Page 129
Orbits and eyes......Page 130
Demography and distribution of lesions......Page 131
Classification......Page 132
LCH associated with other histiocytoses......Page 133
Differential diagnosis......Page 134
Work-up at diagnosis or at reactivation......Page 135
Survival and prognostic factors......Page 136
The clinical challenge......Page 137
REFERENCES......Page 138
Epidemiology......Page 144
Classification......Page 145
Clinical presentation......Page 146
Hashimoto–Pritzker variant: CSRH......Page 149
Skin LCH as part of limited MS disease (previously known as Hand–Schuller–Christian syndrome)......Page 150
Differential diagnosis......Page 151
Treatment......Page 152
Juvenile Xanthogranuloma (JXG)......Page 153
Benign cephalic histiocytosis......Page 155
LCH of the skin in adults......Page 156
Prognosis......Page 157
Indeterminate cell histiocytosis in adults......Page 159
Xanthoma disseminatum......Page 160
Multicentric reticulohistiocytosis......Page 161
REFERENCES......Page 162
Clinical presentation......Page 168
Spine......Page 170
Temporal bone......Page 171
Orbit......Page 172
Differental diagnosis of orbital LCH......Page 173
Plain radiographs......Page 174
Bone scintigraphy......Page 175
Computerized tomography......Page 176
Magnetic resonance imaging......Page 177
Coincidence FDG PET scan......Page 178
Non-steroidal anti-inflammatory drugs......Page 179
Chemotherapy......Page 180
Therapy of 'non-risk' bones......Page 181
Treatment of temporal bone LCH......Page 182
Reactivation of disease......Page 183
REFERENCES......Page 184
Background and clinical features......Page 188
LCH in children and adults: really the same disease?......Page 190
What is the standard treatment of LCH in adults?......Page 192
Treatment of LCH in adults: where do we go from here?......Page 194
Permanent consequences in adults with LCH......Page 196
REFERENCES......Page 198
Epidemiology......Page 201
Lung pathology......Page 202
Langerhans cells......Page 204
Accumulation of LCs in the lung of patients with LCH......Page 206
Destruction of bronchioles by LCH lesions......Page 207
Smoking and pLCH......Page 208
Clinical presentation......Page 209
High-resolution computed tomography......Page 210
Pulmonary function......Page 211
Bronchoscopy and bronchoalveolar lavage......Page 212
Diagnosis......Page 213
Course and prognosis......Page 214
Treatment......Page 215
REFERENCES......Page 217
Introduction......Page 222
Craniofacial bone and skull base lesions......Page 224
Hypothalamic–pituitary disease......Page 225
Epidural, subdural spaces and choroid plexus......Page 229
Intracranial–intraparenchymal disease......Page 230
Intraparenchymal disease with a vascular distribution pattern......Page 231
Intraparenchymal neurodegenerative disease......Page 232
Management of patients with CNS LCH......Page 236
Summary and conclusion......Page 237
REFERENCES......Page 238
Historical perspective......Page 243
Basic issue......Page 244
Classification and stratification systems......Page 245
Unifocal bone disease......Page 250
Multifocal bone disease......Page 251
CNS disease......Page 252
Conservative approach......Page 253
International clinical trials......Page 254
Resistant disease......Page 258
Permanent consequences......Page 261
Conclusion......Page 262
REFERENCES......Page 263
Refractory multiorgan disease......Page 268
2-Chlorodeoxyadenosine......Page 269
Thalidomide......Page 271
Interferon α (INF- α)......Page 272
Etanercept......Page 273
Stem cell transplantation (SCT)......Page 274
Chronic LCH involving the lung and liver......Page 275
REFERENCES......Page 279
Introduction......Page 286
Orthopaedic disabilities......Page 288
Skin......Page 290
Anterior pituitary dysfunction......Page 291
Brain......Page 292
LCH and malignancies......Page 294
LCH and solid tumours......Page 295
LCH and acute leukaemia......Page 297
Conclusions......Page 302
REFERENCES......Page 304
15 Uncommon histiocytic disorder: the non-Langerhans cell histiocytoses......Page 307
The juvenile xanthogranuloma family......Page 308
Histopathology of JXG......Page 311
Cutaneous JXG......Page 314
Intraocular JXG......Page 316
Adult XG......Page 317
Generalized eruptive histiocytosis (GEH)......Page 318
Xanthoma disseminatum (XD)......Page 319
Clinical features of MRH......Page 320
Erdheim–Chester disease (ECD)......Page 321
Clinical features of ECD......Page 322
Therapy of ECD......Page 323
Clinical features of SHML......Page 325
Clinical course of SHML......Page 326
Therapy of SHML......Page 327
Recommendations for therapy......Page 328
REFERENCES......Page 329
Introduction......Page 335
Familial hemophagocytic lymphohistiocytosis (FHL-1–FHL-3)......Page 336
Bone marrow......Page 337
Lymph node......Page 339
Spleen......Page 340
Central nervous system and spinal fluid......Page 342
Secondary HLH......Page 344
Bone marrow......Page 345
Liver......Page 346
REFERENCES......Page 347
Cytotoxic T lymphocytes- and NK cell-mediated apoptosis......Page 351
Lymphocyte cytotoxicity dysfunction: a basic defect......Page 352
Linkage analyses in HLH patients......Page 353
Functional consequences of perforin deficiency......Page 354
Genotype–phenotype correlation studies......Page 356
The MUNC13-4 gene......Page 358
The role of MUNC13-4 in cytotoxic granule exocytosis......Page 359
MUNC13-4 mutations in HLH patients......Page 360
Epstein–Barr virus-triggered hemophagocytosis......Page 361
Concluding remarks......Page 362
REFERENCES......Page 363
Incidence and epidemiology......Page 367
Age at onset, clinical symptoms and natural course of disease......Page 368
Laboratory values......Page 369
Underlying conditions and classification......Page 370
Diagnostic criteria......Page 371
Therapeutic problems......Page 373
Study HLH-94......Page 374
Results of study HLH-94......Page 375
Reactivation therapy......Page 378
Frequently asked questions about HLH......Page 379
Clinical features......Page 380
Initial treatment......Page 382
Hematopoietic SCT......Page 383
Lymphoma-associated HLH......Page 384
Clinical features......Page 385
Treatment and prognosis......Page 386
REFERENCES......Page 387
Historical perspective and issues with nomenclature......Page 394
Classification of MAS among histiocyte disorders......Page 395
Systemic-onset JRA (SoJRA)......Page 396
Systemic lupus erythematosus......Page 398
Hypercytokinemia in MAS......Page 400
Diagnostic criteria......Page 401
Prognostic factors......Page 402
Treatment......Page 403
Summary and conclusion......Page 405
REFERENCES......Page 406
Introduction......Page 410
AML involving cells of monocyte/macrophage lineage......Page 411
CMML and JMML......Page 415
FDC sarcoma......Page 418
REFERENCES......Page 419
21 Psychosocial aspects of the histiocytic disorders: staying on course under challenging clinical circumstances......Page 422
Point 1: Attend to the provider–family relationship......Page 423
Case A......Page 424
Case B......Page 425
Case B......Page 426
Point 4: Build collaborative relationships with family members......Page 427
Case B......Page 428
Case B......Page 429
REFERENCES......Page 430
Index......Page 431