Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes

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Martino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco
Springer Science & Business Media, Oct 1, 2009 - Medical - 1070 pages
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.
 

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Contents

EMBRYOLOGY OF NEUROCUTANEOUS SYNDROMES
1
VASCULAR BIRTHMARKS OF INFANCY PHACE ASSOCIATION PASCUALCASTROVIEJO TYPE II SYNDROME AND COBB SYNDROME
19
NEUROFIBROMATOSIS TYPE 1 RELATED DISORDERS
50
NEUROFIBROMATOSIS TYPE 2 AND RELATED DISORDERS
153
THE TUBEROUS SCLEROSIS COMPLEX
181
VON HIPPELLINDAU DISEASE
228
KLIPPELTRANAUNAY PARKES WEBER AND STURGEWEBER SYNDROMES INCLUDING KASABACHMERRIT PHENOMENA
249
KLIPPELTRENAUNAY SYNDROME
257
CHONDRODYSPLASIA PUNCTATA CDP CONRADIHUNERMANNHAPPLE TYPE CDPX2
602
SJ÷GRENLARSSON SYNDROME
615
KID SYNDROME KERATITISICHTHYOSISDEAFNESS
625
PAPILLONLEF»VRE SYNDROME PLS
633
RICHNERHANHART SYNDROME TYROSINE TRANSAMINASE DEFICIENCY
643
DARIERS DISEASE
648
DYSKERATOSIS CONGENITA
661
NEVOID BASAL CELL CARCINOMA GORLIN SYNDROME
669

PARKES WEBER SYNDROME
276
STURGEWEBER SYNDROME
287
OSLERWEBERRENDU SYNDROME HEREDITARY HEMORRHAGIC TELANGIECTASIA
310
MACROCEPHALYCUTIS MARMORATA TELANGIECTATICA CONGENITA MACROCEPHALYCAPILLARY MALFORMATION
323
BLUE RUBBER BLEB NEVUS SYNDROME BRBNS
333
WYBURNMASON SYNDROME
345
MAFFUCCI SYNDROME
353
HYPOMELANOSIS OF ITO AND RELATED DISORDERS PIGMENTARY MOSAICISM
363
PHYLLOID HYPOMELANOSIS
386
INCONTINENTIA PIGMENTI
391
SILVER HAIR SYNDROMES CHEDIAKHIGASHI SYNDROME CHS AND GRISCELLI SYNDROMES GS
407
LEOPARD SYNDROME
427
NEVUS OF OTA
435
PHACOMATOSIS PIGMENTOKERATOTICA
440
PHAKOMATOSIS PIGMENTOVASCULARIS
449
CUTIS TRICOLOR RUGGIERIHAPPLE SYNDROME
460
NEUROCUTANEOUS MELANOSIS
473
GENETICS OF PTEN HAMARTOMA TUMOR SYNDROME PHTS
482
LHERMITTEDUCLOS AND COWDEN DISEASE COMPLEX
491
BANNAYANRILEYRUVALCABA SYNDROME
510
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS HABERLAND SYNDROME
517
PROTEUS SYNDROME
526
EPIDERMAL NEVUS SYNDROMES
547
SCHIMMELPENNINGFEUERSTEINMIMS SYNDROME NEVUS SEBACEOUS SYNDROME
559
INFLAMMATORY LINEAR VERRUCOUS EPIDERMAL NEVUS ILVEN
574
NEVUS COMEDONICUS SYNDROME
581
BECKERS NEVUS SYNDROME PIGMENTARY HAIRY EPIDERMAL NEVUS
589
CHILD SYNDROME
595
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B
695
TURCOT SYNDROME
702
DEGOS DISEASE MALIGNANT ATROPHIC PAPULOSIS
725
ATAXIATELANGIECTASIA
731
NIJMEGEN BREAKAGE SYNDROME
759
XERODERMA PIGMENTOSUM
770
COCKAYNE SYNDROME
793
TRICHOTHIODYSTROPHY
821
PROGERIA AND PROGEROID SYNDROMES PREMATURE AGEING DISORDERS
846
FOCAL DERMAL HYPOPLASIA SYNDROME GOLTZ SYNDROME
879
EHLERSDANLOS SYNDROMES
887
LIPOID PROTEINOSIS
907
PROGRESSIVE FACIAL HEMIATROPHY PARRYROMBERG SYNDROME
915
LINEAR SCLERODERMA MORPHOEA EN COUP DE SABRE
921
UNILATERAL SOMATIC AND INTRACRANIAL HYPOPLASIA
927
OCULOCEREBROCUTANEOUS SYNDROME DELLEMAN SYNDROME
930
CEREBELLOTRIGEMINAL DERMAL DYSPLASIA GOMEZLOPEZHERNANDEZ SYNDROME
935
MACRODACTYLYLIPOFIBROMATOUS HAMARTOMA OF NERVES
941
CHIME SYNDROME ZUNICH SYNDROME
949
HYPOHIDROTIC ECTODERMAL DYSPLASIA HED
956
COSTELLO SYNDROME AND THE RASEXTRACELLULAR SIGNAL REGULATED KINASE ERK PATHWAY
967
ANDERSONFABRY DISEASE
987
CEREBROTENDINOUS XANTHOMATOSIS
998
GIANT AXONAL NEUROPATHY
1011
LESCHNYHAN SYNDROME
1016
THE SKIN AS A CLUE FOR THE DIAGNOSIS OF INHERITED METABOLIC DISORDERS
1023
SKIN INVOLVEMENT AS A CLINICAL MARKER OF NEUROMUSCULAR DISORDERS
1043
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About the author (2009)

Dr. Martino Ruggieri, Institute of Neurological Science (ISN), National Research Council (CNR), Catania

Prof. Dr. Ignacio Pascual-Castroviejo, Professor of Paediatric Neurology, Madrid

Prof. Dr. Concezio Di Rocco, Instituto di Neurochirurgica, Univ. Cattolica del Sacro Cuore, Roma (Editor-in-Chief "Child's Nervous System")

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