Neurocutaneous Disorders:Phakomatoses and Hamartoneoplastic Syndromes

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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, while 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 as well as updated genotype-phenotype correlations.

This book provides a practical, comprehensive guide to the recognition, investigation and management of more than 60
recognised phakomatoses, making it the most comprehensive reference work available.

Aimed primarily at clinicians and graduate researchers, this essential text bridges the gap between clinical
recognition and the new molecular medicine. The problematic diagnosis of these conditions makes this comprehensive
coverage essential reference material for clinicians.

The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators,
many of them the very same 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.

목차

Embryology of neurocutaneous diseases

L. Flores-Sarnat, HB. Sarnat (Calgary, Canada)



Vascular birthmarks of infancy: "Pascual-Castroviejo II syndrome" & Cobb syndrome

I. Pascual-Castroviejo (Madrid, Spain)


Neurofibromatosis type 1 (NF1) & related forms

M. Ruggieri (Catania, Italy), M. Upadhyaya (Cardiff, UK), C. Di Rocco (Rome, Italy), I. Pascual-Castroviejo (Madrid,
Spain)


Neurofibromatosis type 2 (NF2), Schwannomatosis & related forms

S. Plotkin (Boston, USA)


Tuberous sclerosis complex (TS)

S. Jozwiak (Warsaw, Poland), N. Migone (Turin, Italy)


Von Hippel-Lindau disease (VHL)

ST. Jarrell & RR. Lonser (Bethesda, USA)


Klippel-Trenaunay, Parkes Weber and Sturge-Weber syndromes:

variations on a theme?

M. Ruggieri (Catania, Italy),O. Konez (Cleveland, USA), I. Pascual-Castroviejo (Madrid, Spain)


Klippel-Trenaunay syndrome

M. Ruggieri (Catania, Italy), C. Di Rocco (Rome, Italy), O. Konez (Cleveland, USA)


Parkes Weber syndrome

M. Ruggieri (Catania, Italy),C. Di Rocco (Rome, Italy), O. Konez (Cleveland, USA),


Sturge-Weber syndrome

I. Pascual-Castroviejo (Madrid, Spain), O. Konez (Cleveland, USA), C. Di Rocco (Rome, Italy), M. Ruggieri (Catania,
Italy)


Osler-Weber-Rendu syndrome (Hereditary haemorrhagic telangiectasia) H. Sadik, M. Sadick, K Hormann (Mannheim, Germany)


Macrocephaly-Cutis Marmorata Telangiectatica Congenita (MCMTC)

P. Lapunzina (Madrid, Spain), J. Clayton-Smith (Cambrdige, UK)


Blue Rubber Bleb Nevus syndrome

M. del C. Boente (Tucuman, Argentina), et al.


Wyburn-Mason syndrome

M. Ruggieri (Catania, Italy), O. Konez (Cleveland, USA), C. Di Rocco (Rome, Italy)


Maffucci syndrome (enchondromatosis and vascular malformations)

L.B. Rozeman, YM Schrange, PCW Hagendoorn, JVM Bovee (Leiden, The Netherlands)


Hypomelanosis of Ito & related disorders (Pigmentary mosaicism)

I. Pascual-Castroviejo (Madrid, Spain), M. Ruggieri (Catania, Italy)


Phylloid hypomelanosis C. Schepis (Troina-EN, Italy)


Incontinentia pigmenti

I. Pascual-Castroviejo (Madrid, Spain)


Syndromes with silvery hair (Chediak-Higashi, Griscelli & Elejalde syndromes) C. Duran-McKinster et al. (Mexico City,
Mexico)


LEOPARD syndrome

S. Jozwiak (Warsaw, Poland)


Nevus of Ota

I. Pascual-Castroviejo (Madrid, Spain), M. Ruggieri (Catania, Italy)


Phakomatosis pigmentokeratotica M. del C. Boente (Tucuman, Argentina), R. Happle (Marburg, Germany)


Phakomatosis pigmentovascularis R.Ruiz-Maldonado, L. Orozoco-Covarrubias, C. Duran-McKinster, M. Saez De Ocariz (Mexico
City, Mexico)


Speckled lentiginous nevi syndrome (Happle syndrome)

M. Ruggieri (Catania, Italy)


Cutis tricolor (Ruggieri-Happle syndrome)

M. Ruggieri (Catania, Italy), M. Roggini (Rome, Italy), C. Schepis (Troina, EN), P. Iannetti (Rome, Italy),


Neuromelanosis cutanea

S. Jozwiak (Warsaw, Poland)


Genetics of PTEN-hamartomatous syndromes

C. Romano (Troina-EN, Italy)


Cowden/Lhermitte-Duclos syndrome

D. Nowak (Munich, Germany)


Bannayan-Riley-Ruvalcaba syndrome

C. Romano (Troina-EN, Italy)


Encephalocraniocutaneous lipomatosis (ECCL) (Haberland syndrome)

S. Jozwiak (Warsaw, Poland), I. Pascual-Castroviejo (Madrid, Spain)


Proteus & Elattoproteus syndromes

M.Ruggieri (Catania, IIaly), I. Pascual-Castroviejo (Madrid, Spain)


The "epidermal nevus syndromes": an overview JL. Sugarman (San Francisco, USA)


Schimmelpenning-Feuerstein-Mims Solomon syndrome [Nevus sebaceous syndrome] I. Pascual-Castroviejo (Madrid, Spain), M.
Ruggieri (Catania, Italy)


ILVEN (Inflammatory linear verrucous epidermal nevus) M. Ruggieri (Catania, Italy), JL. Sugarman (San Francisco, USA)


Nevus comedonicus JL. Sugarman (San Francisco, USA)


Becker syndrome (pigmented hairy epidermal nevus syndrome) M.Ruggieri (Catania), S. Gangarossa (Ragusa, Italy)


CHILD syndrome R. Ruiz-Maldonado, L. Orozoco-Covarrubias, C. Duran-McKinster, M. Saez De Ocariz (Mexico City, Mexico)


Conradi-Hunermann syndrome I. Pascual-Castroviejo (Madrid, Spain)


Sjogren-Larsson syndrome I. Pascual-Castroviejo (Madrid, Spain), M. Ruggieri (Catania, Italy)


KID syndrome (keratitis - Ichtyosis - Deafness)

L. Orozco-Covarrubias et al. (Mexico City, Mexico)


Papillon-Lefevre syndrome

C.Ullbro (Stockholm, Sweden)


Richner-Hanhart syndrome

L. Orozco-Covarrubias et al. (Mexico City, Mexico)


Darier’s disease

M. Saez de Ocariz et al. (Mexico City, Mexico)


Dyskeratosis congenita

M. Saez de Ocariz et al. (Mexico City, Mexico)


Nevoid basal cell carcinoma (NBCC) syndrome (Gorlin syndrome) RJ. Gorlin (Minneapolis, USA)


Multiple Endocrine Neoplasia (MEN) type 2B

E. Kebebew, (San Francisco, USA)


Turcot disease L. Papi (Florence, Italy)


Degos disease (malignant atrophic papulosis) C. Schepis, N. Amato (Troina-EN, Italy), M. Ruggieri (Catania, Italy)


Ataxia-telangiectasia (Louis-Bar syndrome)

L. Chessa (Rome, Italy), A. Polizzi, M. Ruggieri (Catania, Italy)


Nijmegen-Breakage syndrome

C Weemaes (The Netherlands), L. Chessa (Rome, Italy)


Xeroderma pigmentosum (XP)

M. Stefanini (Pavia, Italy), K. Kraemer (Bethesda, USA)


Cockayne syndrome (CS)

M. Stefanini (Pavia, Italy), K. Kraemer (Bethesda, USA)


Trichothiodystrophy (TTD) & Tay syndrome

M. Stefanini (Pavia, Italy), I. Pascual-Castroviejo (Madrid, Spain), K. Kraemer (Bethesda, USA)


Progeria/Progeroid syndromes

I. Pascual-Castroviejo (Madrid, Spain)


Focal dermal hypoplasia (Goltz syndrome)

I. Pascual-Castroviejo (Madrid, Spain)


Ehlers-Danlos syndrome

S. Savasta (Pavia, Italy)


Lipoid proteinosis (Urbach-Wiethe syndrome)

T. Hamada (Kurume, Japan)


Progressive facial hemiatrophy (Parry-Romberg syndrome)

I. Pascual-Castroviejo (Madrid, Spain)


Linear scleroderma "en coup de sabre"

I. Pascual-Castroviejo (Madrid, Spain), M. Ruggieri (Catania. Italy)


Unilateral facial and intracranial hypoplasia

I. Pascual-Castroviejo (Madrid, Spain)


Oculo-cutaneous-cerebral syndrome (OCC/Delleman’s syndrome)

I. Pascual-Castroviejo (Madrid, Spain)


Cerebello-trigeminal-dermal dysplasia (Gomez-Lopez-Hernandez syndrome)

I. Pascual-Castroviejo (Madrid, Spain)


Macrodactyly-nerve fibrolipoma

C. Duran-McKinster et al. (Mexico City, Mexico)


Zunich (CHIMER) neuroectodermal syndrome J. Zunich (Gary, USA), N. Esterly (Chicago, USA)


Hypohidrotic ectodermal dysplasia (Christ-Siemens-Weech syndrome)

I. Pascual-Castroviejo (Madrid, Spain)


Costello syndrome (Cardio-facio-cutaneous syndrome)

I. Pascual-Castroviejo (Madrid, Spain). M. Ruggieri (Catania, Italy)


Fabry disease

A.C. Hauser (Vienna, Austria)


Cerebrotendineous xanthomatosis

A. Federico, GL. Gallus, MT. Dotti (Siena, Italy)


Giant axonal neuropathy

C. Bruno & C. Minetti (Genoa, Italy)


Lesch-Nyhan syndrome I. Pascual-Castroviejo (Madrid, Spain)


Skin as a clue for neurometabolic disorders E. Bertini (Rome, Italy)


Skin involvement as a clinical marker of neuromuscular disorders R. Falsaperla (Catania, Italy)