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. |
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Contents
1 | |
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 |
SJÖGRENLARSSON SYNDROME | 615 |
KID SYNDROME KERATITISICHTHYOSISDEAFNESS | 625 |
PAPILLONLEFÈVRE 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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Common terms and phrases
abnormalities activity affected analysis anomalies appear Arch areas artery associated basal cell bone brain cancer cause cell cell carcinoma cerebral changes child chromosome clinical Cohen common complex congenital cutaneous defects Dermatol described diagnosis differentiation disease disorders drome early epidermal et al evidence expression facial findings frequently function gene Genet growth Happle hemangiomas human imaging increased individuals involvement Italy KID syndrome later lesions loss malformations malignant manifestations mental molecular mosaicism multiple mutations natural nerve neural crest neurocutaneous neurofibromas neurofibromatosis neurological nevus nevus syndrome normal observed occur Pascual-Castroviejo patients pattern Pediatr phenotype present progressive protein PTEN rare region repair reported result risk Ruggieri seen severe skin studies suggested symptoms tion tissue treatment tuberous sclerosis tumors typical University University of Catania usually vascular