Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic SyndromesMartino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses. |
Contents
| 1 | |
| 19 | |
Neurofibromatosis type 1 related disorders 51 | 139 |
Neurofibromatosis type 2 and related disorders | 153 |
The tuberous sclerosis complex | 181 |
KlippelTranaunay Parkes Weber and SturgeWeber syndromes including | 249 |
Parkes Weber syndrome 277 | 276 |
Macrocephalycutis marmorata telangiectatica congenita | 310 |
Nevus comedonicus syndrome | 581 |
Beckers nevus syndrome Pigmentary hairy epidermal nevus | 589 |
Child Syndrome | 595 |
Chondrodysplasia punctata CDP ConradiHunermannhapple type CDPX2 603 | 602 |
SjögrenLarsson syndrome | 615 |
Kid syndrome KeratitisIchthyosisdeafness | 625 |
RichnerHanhart syndrome Tyrosine transaminase deficiency | 643 |
Dyskeratosis congenita | 661 |
Blue Rubber Bleb nevus syndrome BRBNS | 333 |
Maffucci syndrome | 353 |
Phylloid hypomelanosis | 386 |
ChediakHigashi syndrome CHS and Griscelli | 407 |
Leopard syndrome | 427 |
Nevus of Ota | 435 |
Phakomatosis pigmentovascularis | 449 |
Speckled lentiginous nevus syndrome | 455 |
Neurocutaneous melanosis | 473 |
Genetics of PTEN hamartoma tumor syndrome PHTS 483 | 482 |
LhermitteDuclos and Cowden disease complex | 491 |
BannayanRileyRuvalcaba syndrome 511 | 509 |
Encephalocraniocutaneous lipomatosis Haberland syndrome | 517 |
Proteus syndrome 527 | 526 |
Epidermal nevus syndromes | 547 |
SchimmelpenningFeuersteinMims syndrome Nevus sebaceous syndrome | 559 |
Inflammatory linear verrucous epidermal nevus ILVEN 575 | 574 |
Multiple endocrine neoplasia type 2B | 695 |
Degos disease Malignant atrophic papulosis | 725 |
Nijmegen breakage syndrome | 759 |
Cockayne syndrome | 793 |
Trichothiodystrophy | 821 |
Progeria and progeroid syndromes Premature ageing disorders 847 | 846 |
Focal dermal hypoplasia syndrome Goltz syndrome | 879 |
Lipoid proteinosis | 907 |
Linear scleroderma morphoea en coup de sabre | 921 |
Oculocerebrocutaneous syndrome Delleman syndrome 931 | 930 |
CHIME syndrome Zunich syndrome | 949 |
Costello syndrome and the RASextracellular signal regulated kinase ERK pathway | 967 |
AndersonFabry disease | 987 |
Giant axonal neuropathy | 1011 |
Skin involvement as a clinical marker of neuromuscular disorders | 1043 |
| 1057 | |
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Common terms and phrases
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