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Book Details
Abstract
Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features.
Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise.
The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders.
Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Neurocutaneous Disorders | I | ||
| Copyright | II | ||
| Foreword (second edition) | III | ||
| Foreword (first edition) | IV | ||
| Editors and contributing authors | V | ||
| Dedication | VII | ||
| Table of contents | VIII | ||
| Introduction | X | ||
| 1 Historical note | X | ||
| 2 The spectrum of neurocutaneous disorders | XI | ||
| 3 Development of the neural crest | XI | ||
| 4 The book’s purpose | XII | ||
| Bibliography | XIII | ||
| A - General considerations | 1 | ||
| 1 - General aspects of aetiology, diagnostics and therapy | 3 | ||
| 1.1 Genetics of neurocutaneous syndromes | 5 | ||
| 1.1.1 Neurofibromatosis 1 | 5 | ||
| The NF1 gene | 5 | ||
| NF1 mutations | 6 | ||
| NF1 gene function | 6 | ||
| NF1 gene mutations are responsible for classical neurofibromatosis 1 and other phenotypes | 7 | ||
| Loss of heterozygosity and Knudson's two-hit hypothesis in neurofibromatosis 1 | 8 | ||
| 1.1.2 Neurofibromatosis 2 | 9 | ||
| The NF2 gene | 9 | ||
| NF2 mutations | 9 | ||
| NF2 gene function | 9 | ||
| 1.1.3 Tuberous sclerosis | 10 | ||
| TSC1 and TSC2 mutations | 10 | ||
| TSC1 and TSC2 gene function | 11 | ||
| Contiguous gene deletion syndrome involving TSC2 and ADPKD1 | 12 | ||
| 1.1.4 Sturge-Weber syndrome (Encephalofacial angiomatosis) | 12 | ||
| 1.1.5 Ataxia-teleangiectasia (Louis-Bar syndrome) | 12 | ||
| 1.1.6 Von Hippel-Lindau syndrome | 13 | ||
| VHL mutations | 13 | ||
| Gene function | 14 | ||
| 1.1.7 Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome) | 14 | ||
| 1.1.8 Neurocutaneous melanosis | 14 | ||
| 1.1.9 Incontinentia pigmenti | 15 | ||
| Hypomelanosis of Ito, IP1 | 15 | ||
| Bloch-Sulzberger syndrome (Classic or familial incontinentia pigmenti, IP2) | 15 | ||
| 1.1.10 Klippel-Trenaunay-Weber syndrome | 16 | ||
| 1.1.11 Proteus syndrome | 16 | ||
| 1.1.12 Linear nevus sebaceous syndrome | 16 | ||
| 1.1.13 Xeroderma pigmentosum (XP) and Bloom syndrome | 16 | ||
| 1.1.14 Cowden disease and Lhermitte-Duclos disease | 17 | ||
| 1.1.15 Bannayan-Riley-Ruvalcaba or Bannayan-Zonana syndrome | 17 | ||
| 1.1.16 Encephalocraniocutaneous lipomatosis | 17 | ||
| 1.1.17 PHACE syndrome | 17 | ||
| 1.1.18 CHILD syndrome | 17 | ||
| 1.1.19 Ichthyosis and ichthyosis-like disorders (Chanarin-Dorfman syndrome) | 18 | ||
| 1.1.20 Steroid sulfatase and multiple sulfatase deficiency | 18 | ||
| 1.1.21 Sjögren-Larsson syndrome (SLS) | 18 | ||
| 1.1.22 KID and HID syndrome | 18 | ||
| 1.1.23 Malignant atrophic papulosis (Degos disease) | 19 | ||
| 1.1.24 Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) | 19 | ||
| 1.1.25 Cerebrotendinous xanthomatosis | 19 | ||
| 1.1.26 Fabry disease | 19 | ||
| 1.1.27 Databases and links | 20 | ||
| 1.2 Molecular genetics and molecular biology of the NF1 gene | 26 | ||
| Structure of the NF1 gene | 26 | ||
| NF1 gene promoter region | 26 | ||
| NF1 3' untranslated region (3' UTR) | 26 | ||
| NF1 gene expression | 26 | ||
| Alternative splicing of the NF1 gene | 27 | ||
| NF1 pseudogenes | 27 | ||
| Neurofibromin: the NF1 gene product | 27 | ||
| The GAP related domain | 28 | ||
| The phospholipid-binding NF1-Sec-PH module | 28 | ||
| Additional neurofibromin interactions | 28 | ||
| The germline mutational spectrum of the NF1 gene | 28 | ||
| Somatic NF1 mutation as a first hit resulting in NF1 mosaicism | 29 | ||
| Somatic NF1 mutations as a “second hit” in NF1 associated neoplasias | 29 | ||
| Molecular diagnosis of NF1 | 30 | ||
| NF1 gene evolution | 30 | ||
| Genotype-phaenotype relationships | 30 | ||
| Modifying genes in neurofibromatosis 1 | 31 | ||
| Atypical forms of NF1 | 31 | ||
| 1.3 Type 2 segmental manifestation of neurocutaneous syndromes | 37 | ||
| 1.3.1 General considerations | 37 | ||
| 1.3.2 Neurofibromatosis type 1 (NF1) | 38 | ||
| 1.3.3 Neurofibromatosis type 2 (NF2) | 39 | ||
| 1.3.4 Legius syndrome | 40 | ||
| 1.3.5 Tuberous sclerosis | 40 | ||
| 1.3.6 PTEN hamartoma syndrome (Cowden disease included) | 40 | ||
| 1.3.7 Nevoid basal cell carcinoma syndrome (Gorlin syndrome) | 41 | ||
| 1.4 Neuro-Imaging in Neurocutaneous Disorders | 42 | ||
| 1.4.1 Neurofibromatosis type 1 | 42 | ||
| Brain findings | 43 | ||
| Optic gliomas | 43 | ||
| Imaging of bright areas | 44 | ||
| Non-optic glial tumours | 45 | ||
| Other CNS and skull findings | 46 | ||
| Orbital plexiform neurofibroma | 47 | ||
| Spine findings | 47 | ||
| Skeletal-dural abnormalities | 47 | ||
| Neoplasms | 48 | ||
| 1.4.2 Neurofibromatosis type 2 | 48 | ||
| Cranial nerve Schwannomas | 48 | ||
| Meningiomas | 49 | ||
| Spine findings | 50 | ||
| Schwannomatosis | 50 | ||
| 1.4.3 Tuberous sclerosis | 50 | ||
| Central nervous system manifestations | 50 | ||
| Visceral manifestations | 52 | ||
| 1.4.4 Sturge-Weber syndrome | 53 | ||
| 1.4.5 Von Hippel-Lindau disease | 55 | ||
| CNS haemangioblastoma | 55 | ||
| Endolymphatic sac tumour | 56 | ||
| Visceral manifestations | 56 | ||
| 1.4.6 Ataxia telagiectasia (Louis-Bar syndrome) | 57 | ||
| 1.4.7 Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) | 57 | ||
| 1.4.8 Klippel-Trenaunay syndrome | 58 | ||
| 1.5 Neuropathology of neurocutaneous disorders | 63 | ||
| 1.5.1 Neurofibromatosis 1 (NF1) | 63 | ||
| 1.5.2 Neurofibromatosis 2 (NF2) | 64 | ||
| 1.5.3 Tuberous sclerosis complex | 66 | ||
| 1.5.4 Sturge-Weber syndrome | 67 | ||
| 1.5.5 Ataxia-telangiectasia (Louis-Bar syndrome) | 67 | ||
| 1.5.6 von Hippel-Lindau disease | 68 | ||
| 1.5.7 Naevoid basal cell carcinoma (Gorlin-Goltz syndrome) | 68 | ||
| 1.5.8 Linear naevus sebaceous syndrome | 69 | ||
| 1.5.9 Lhermitte-Duclos disease and Cowden disease | 69 | ||
| 1.5.10 Menkes disease | 69 | ||
| 1.5.11 Refsum disease | 70 | ||
| 1.5.12 Marinesco-Sjögren syndrome | 70 | ||
| 1.5.13 Incontinentia pigmenti | 71 | ||
| 1.5.14 Lipoid proteinosis | 71 | ||
| 1.5.15 Cerebrotendinous xanthomatosis | 72 | ||
| 1.5.16 Familial systematized epidermal naevus syndrome | 72 | ||
| 1.5.17 Encephalocraniocutaneous lipomatosis | 72 | ||
| 1.5.18 Neurocutaneous melanosis | 73 | ||
| 1.5.19 Chediak-Higashi syndrome | 73 | ||
| 1.5.20 Cerebello-Trigeminal-Dermal-Dysplasia | 74 | ||
| 1.5.21 Ichthyosis follicularis, alopecia, and photophobia syndrome | 74 | ||
| 1.5.22 Fucosidosis | 74 | ||
| 1.5.23 Xeroderma pigmentosum/Cockayne syndrome complex | 75 | ||
| 1.5.24 Fabry's disease | 75 | ||
| 1.5.25 Dyskeratosis congenita | 76 | ||
| 1.5.26 Oculocerebrocutaneous syndrome (Delleman syndrome) | 76 | ||
| 1.5.27 PHACE syndrome | 77 | ||
| 1.5.28 Proteus syndrome | 77 | ||
| 1.5.29 Hypomelanosis of Ito | 77 | ||
| 1.5.30 Klippel-Trenaunay syndrome | 78 | ||
| 1.5.31 Sjögren-Larsson syndrome | 78 | ||
| 1.6 Ocular manifestations of neurocutaneous syndromes | 82 | ||
| 1.6.1 Neurofibromatosis Type 1 (NF1) | 82 | ||
| 1.6.2 Neurofibromatosis Type 2 (NF2) | 84 | ||
| 1.6.3 Tuberous sclerosis | 86 | ||
| 1.6.4 Sturge Weber Syndrome | 86 | ||
| 1.6.5 Von Hippel-Lindau disease | 88 | ||
| 1.6.6 Ataxia-telangiectasia | 89 | ||
| 1.7 Neurosurgical management of neurocutaneous disorders | 93 | ||
| 1.7.1 Neurofibromatosis (NF) | 93 | ||
| Clinical Characteristics | 93 | ||
| Management | 94 | ||
| 1.7.2 Tuberous Sclerosis Complex (TSC) | 96 | ||
| Clinical Characteristics | 96 | ||
| Management | 96 | ||
| 1.7.3 Sturge-Weber Disease | 97 | ||
| Clinical Characteristics | 97 | ||
| Management | 98 | ||
| 1.7.4 Angiomatosis of the retina and cerebellum (Von Hippel-Lindau Disease) | 98 | ||
| Clinical Characteristics | 99 | ||
| Management | 100 | ||
| 1.7.5 Neurocutaneous melanosis (NCM) | 100 | ||
| 1.7.6 Conclusion | 101 | ||
| B - Specific disorders | 105 | ||
| 2 - Developmental malformations | 107 | ||
| 2.1 Sturge-Weber syndrome | 109 | ||
| 2.1.1 Epidemiology | 109 | ||
| 2.1.2 Genetics | 109 | ||
| 2.1.3 Clinical characteristics | 110 | ||
| Skin Involvement | 110 | ||
| Eye involvement | 110 | ||
| Brain involvement | 111 | ||
| Endocrine involvement | 111 | ||
| 2.1.4 Pathology | 112 | ||
| 2.1.5 Diagnosis | 113 | ||
| 2.1.6 Therapy | 113 | ||
| 2.1.7 Prognosis | 115 | ||
| 2.2 Ataxia-Telangiectasia (Louis-Bar syndrome) | 119 | ||
| 2.2.1 Pathogenesis-Genetics (see the chapter on Neuropathology and Genetics) | 119 | ||
| 2.2.2 Clinical characteristics | 120 | ||
| 2.2.3 Diagnosis | 121 | ||
| 2.2.4 Therapy | 122 | ||
| 2.2.5 Prognosis | 122 | ||
| 2.3 Hypomelanosis of Ito (Incontinentia pigmenti achromians) | 124 | ||
| 2.3.1 Clinical characteristics | 124 | ||
| 2.3.2 Therapy | 126 | ||
| 2.4 Incontinentia pigmenti (Bloch-Sulzberger syndrome) | 127 | ||
| 2.4.1 Pathogenesis | 128 | ||
| 2.4.2 Clinical characteristics | 128 | ||
| Cutaneous involvement | 128 | ||
| Neurological involvement | 129 | ||
| Visual involvement | 130 | ||
| 2.4.3 Therapy | 131 | ||
| 2.5 Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome) | 133 | ||
| 2.5.1 Clinical characteristics | 133 | ||
| 2.5.2 Therapy and prognosis | 136 | ||
| 2.6 Epidermal naevus syndrome and Linear naevus sebaceous syndrome | 138 | ||
| 2.6.1 Clinical characteristics | 139 | ||
| Cutaneous involvement | 139 | ||
| Neurological involvement | 139 | ||
| 2.6.2 Epidermal naevus syndromes (ENS) | 140 | ||
| 2.6.3 Diagnosis | 141 | ||
| 2.6.4 Therapy and prognosis | 141 | ||
| 2.7 Neurocutaneous melanosis | 142 | ||
| 2.7.1 Pathophysiology | 143 | ||
| 2.7.2 Clinical characteristics | 144 | ||
| 2.7.3 Neurologic involvement | 144 | ||
| 2.7.4 Therapy and prognosis | 146 | ||
| 2.8 Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) | 148 | ||
| 2.8.1 Clinical characteristics | 148 | ||
| 2.8.2 Pathogenesis | 149 | ||
| 2.8.3 Diagnosis | 149 | ||
| 2.8.4 Therapy | 150 | ||
| 2.8.5 Prognosis | 150 | ||
| 2.9 Cowden disease and Lhermitte-Duclos disease | 151 | ||
| 2.9.1 Clinical characteristics | 151 | ||
| 2.10 Cutaneomeningospinal angiomatosis (Cobb syndrome) | 153 | ||
| 2.10.1 Clinical characteristics | 153 | ||
| 2.10.2 Diagnosis | 154 | ||
| 2.10.3 Therapy | 154 | ||
| 2.10.4 Prognosis | 154 | ||
| 2.11 Cutis marmorata telangiectatica congenita (Van Lohuizen's syndrome) | 155 | ||
| 2.11.1 Clinical characteristics | 155 | ||
| 2.12 Encephalocraniocutaneous lipomatosis (Haberland syndrome) | 157 | ||
| 2.12.1 Clinical characteristics | 157 | ||
| 2.12.2 Diagnosis | 158 | ||
| 2.12.3 Therapy | 159 | ||
| 2.13 LEOPARD syndrome (multiple lentigines; Lentiginosis profusa) | 160 | ||
| 2.13.1 Clinical characteristics | 161 | ||
| 2.13.2 Diagnosis | 162 | ||
| 2.13.3 Management | 162 | ||
| 2.14 MIDAS syndrome (Microphthalmia with linear skin defects) | 164 | ||
| 2.15 Oculocerebrocutaneous Syndrome (Delleman syndrome) | 165 | ||
| 2.16 Oro-facio-digital syndrome | 166 | ||
| 2.16.1 Clinical characteristics | 166 | ||
| 2.17 PHACE syndrome | 168 | ||
| 2.17.1 Pathogenesis | 168 | ||
| 2.17.2 Clinical characteristics | 169 | ||
| 2.17.3 Involvement of the nervous system and others | 170 | ||
| 2.17.4 Diagnosis | 171 | ||
| 2.17.5 Therapy | 172 | ||
| 2.18 Proteus syndrome | 173 | ||
| 2.18.1 Clinical characteristics | 174 | ||
| 2.18.2 Therapy and prognosis | 175 | ||
| 2.19 Wyburn-Manson-Syndrome | 176 | ||
| 2.19.1 Clinical characteristics | 177 | ||
| 2.20 Cerebello-trigemino-dermal (Gómez-López-Hernández syndrome) | 178 | ||
| 2.20.1 Clinical characteristics | 178 | ||
| 2.21 Vascular tumours (haemangiomas) | 179 | ||
| 2.21.1 Introduction | 179 | ||
| 2.21.2 Epidemiology | 179 | ||
| 2.21.3 Clinical characteristics | 180 | ||
| 2.21.4 Diagnosis and differential diagnosis | 181 | ||
| 2.21.5 Therapy | 183 | ||
| 1. Cryotherapy | 183 | ||
| 2. Laser therapy | 184 | ||
| 3. Plastic surgery treatment | 184 | ||
| 4. Systemic propranolol treatment | 185 | ||
| 5. Topical propranolol treatment | 186 | ||
| 6. Other drug treatment options | 187 | ||
| 2.21.6 Special types of vascular tumours | 188 | ||
| Segmental haemangiomas in the “beard area” | 188 | ||
| Haemangiomatosis | 188 | ||
| 2.21.7 Rapid involuting congenital haemangioma (RICH) | 188 | ||
| Non involuting congenital haemangioma (NICH) | 188 | ||
| Haemangiomas in association with syndromes | 188 | ||
| Possible combined malformations in PHACE(S)-syndrome are | 188 | ||
| Possible combined malformations in PELVIS-syndrome are | 189 | ||
| Vascular tumours with histological specifics and/or tendency to develop Kasabach Merritt syndrome | 189 | ||
| Vascular tumours acquired after birth | 190 | ||
| 3 - Tumour suppressor/DNA-repair disorders | 193 | ||
| 3.1 Neurofibromatosis 1 and 2 | 194 | ||
| 3.1.1 Neurofibromatosis 1 (NF1) (von Recklinghausen disease) | 194 | ||
| History of NF1 | 194 | ||
| Epidemiology | 195 | ||
| Diagnostic criteria | 195 | ||
| Differential diagnostics of NF1 | 195 | ||
| Segmental NF1 | 196 | ||
| Clinical characteristics of NF1 in children | 196 | ||
| Clinical characteristics of NF1 in adults | 202 | ||
| 3.1.2 Neurofibromatosis II (NF2) | 206 | ||
| History of NF2 | 206 | ||
| Epidemiology | 207 | ||
| Genetics | 207 | ||
| Diagnostic Criteria | 207 | ||
| Geno-phenotype correlation | 208 | ||
| Clinical characteristics | 208 | ||
| Differential diagnosis | 211 | ||
| Management and therapy | 211 | ||
| Management of patients with incomplete expression of symptoms | 212 | ||
| Medical treatment | 213 | ||
| 3.2 Tuberous sclerosis (Bourneville disease) | 220 | ||
| 3.2.1 Definition | 220 | ||
| 3.2.2 History | 220 | ||
| 3.2.3 Epidemiology | 220 | ||
| 3.2.4 Genetics (see also separate chapter on Genetics) | 220 | ||
| 3.2.5 Signalling pathways affected in TSC | 221 | ||
| 3.2.6 Clinical characteristics | 221 | ||
| 3.2.7 Diagnosis | 227 | ||
| 3.2.8 Therapy | 228 | ||
| 3.2.9 Prognosis | 230 | ||
| 3.3 Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau disease) | 236 | ||
| 3.3.1 Clinical characteristic | 237 | ||
| Haemangioblastoma | 237 | ||
| Phaeochromocytoma and other tumours | 238 | ||
| Retinal angiomas | 238 | ||
| 3.3.2 Diagnosis | 239 | ||
| 3.3.3 Therapy | 240 | ||
| 3.3.4 Prognosis | 241 | ||
| 3.4 Naevoid basal cell carcinoma (GORLIN-GOLTZ syndrome) | 243 | ||
| 3.4.1 Clinical characteristics | 244 | ||
| 3.4.2 Diagnosis | 244 | ||
| 3.4.3 Therapy and Prognosis | 245 | ||
| 3.5 Cockayne syndrome | 247 | ||
| 3.5.1 Clinical characteristics | 247 | ||
| 3.6 Xeroderma pigmentosum (Kaposi dermatosis) | 250 | ||
| 3.6.1 Clinical characteristics | 250 | ||
| Cutaneous involvement | 250 | ||
| Ocular involvement | 250 | ||
| Neurologic involvement | 251 | ||
| Other Neoplasia | 251 | ||
| 3.6.2 Pathogenesis | 251 | ||
| 3.6.3 Differential diagnosis | 252 | ||
| 3.6.4 Diagnosis | 252 | ||
| 3.6.5 Therapy | 252 | ||
| 3.6.6 Prognosis | 253 | ||
| Bibliography | 253 | ||
| 4 - Defects of enzymes and structural proteins | 255 | ||
| 4.1 Cerebrotendinous xanthromatosis | 256 | ||
| 4.1.1 Clinical characteristics | 256 | ||
| 4.1.2 Pathogenesis | 257 | ||
| 4.1.3 Diagnosis/differential diagnosis | 257 | ||
| 4.1.4 Therapy | 258 | ||
| 4.2 Chédiak-Higashi syndrome | 259 | ||
| 4.2.1 Clinical characteristics | 259 | ||
| 4.2.2 Pathogenesis | 259 | ||
| 4.2.3 Diagnosis | 260 | ||
| 4.2.4 Therapy | 260 | ||
| 4.2.5 Prognosis | 261 | ||
| 4.3 CHILD syndrome | 261 | ||
| 4.3.1 Pathogenesis | 262 | ||
| 4.3.2 Clinical characteristics | 262 | ||
| 4.3.3 Diagnosis | 263 | ||
| 4.3.4 Therapy | 264 | ||
| 4.4 Dorfman – Chanarin syndrome | 265 | ||
| 4.5 Ehlers-Danlos syndrome | 267 | ||
| 4.5.1 Clinical characteristics | 267 | ||
| Classic EDS | 268 | ||
| Hypermobility EDS | 268 | ||
| Kyphoscoliosis EDS | 268 | ||
| Dermatosparaxis EDS | 269 | ||
| 4.5.2 Pathogenesis | 269 | ||
| 4.5.3 Therapy | 270 | ||
| 4.6 Ichthyoses – Trichothiodystrophy – TAY syndrome | 271 | ||
| 4.6.1 Ichthyoses | 271 | ||
| 4.6.2 Trichothiodystrophy | 273 | ||
| 4.6.3 Clinical characteristics | 273 | ||
| 4.6.4 Tay syndrome | 274 | ||
| 4.7 Rud syndrome | 277 | ||
| 4.7.1 Clinical characteristics | 277 | ||
| 4.8 HID/KID syndrome | 279 | ||
| 4.9 Hutchinson-Gilford progeria syndrome | 280 | ||
| 4.9.1 Clinical characteristics | 281 | ||
| 4.9.2 Therapy and prognosis | 282 | ||
| 4.10 Lipoid Proteinosis (Urbach-Wiethe syndrome) | 284 | ||
| 4.10.1 Clinical characteristics | 284 | ||
| 4.11 McCune-Albright disease | 285 | ||
| 4.11.1 Clinical characteristics | 285 | ||
| Endocrinopathy | 285 | ||
| Polyostotic fibrous dysplasia | 285 | ||
| Café-au-lait spots | 286 | ||
| 4.11.2 Pathogenesis | 286 | ||
| 4.11.3 Diagnosis | 286 | ||
| 4.11.4 Therapy | 287 | ||
| 4.11.5 Prognosis | 287 | ||
| 4.12 Menkes syndrome (Kinky hair disease; Tricholiodystrophy) | 288 | ||
| 4.12.1 Pathophysiology | 289 | ||
| 4.12.2 Clinical characteristics | 290 | ||
| 4.12.3 Diagnosis | 291 | ||
| 4.12.4 Therapy | 291 | ||
| 4.13 Refsum disease (Heredopathis atactica polyneuritiformis) | 293 | ||
| 4.13.1 Clinical characteristics | 294 | ||
| 4.13.2 Diagnosis | 294 | ||
| 4.13.3 Therapy and Prognosis | 295 | ||
| 4.14 Sjögren-Larsson syndrome | 296 | ||
| 4.14.1 Pathogenesis | 297 | ||
| 4.14.2 Clinical characteristics | 297 | ||
| Neurological involvement | 298 | ||
| 4.14.3 Diagnosis | 298 | ||
| 4.14.4 Therapy | 299 |