Ruggieri / Pascual Castroviejo / Di Rocco Neurocutaneous Disorders
1. Auflage 2009
ISBN: 978-3-211-69500-5
Verlag: Springer Wien
Format: PDF
Kopierschutz: 1 - PDF Watermark
Phakomatoses & Hamartoneoplastic Syndromes
E-Book, Englisch, 1070 Seiten, eBook
ISBN: 978-3-211-69500-5
Verlag: Springer Wien
Format: PDF
Kopierschutz: 1 - PDF Watermark
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.
Zielgruppe
Professional/practitioner
Autoren/Hrsg.
Weitere Infos & Material
Embryology of Neurocutaneous Syndromes.- Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome.- Neurofibromatosis type 1 & Related Disorders.- Neurofibromatosis type 2 and related disorders.- The Tuberous Sclerosis Complex.- Von Hippel-Lindau Disease.- Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena).- Klippel-Trenaunay Syndrome.- Parkes Weber Syndrome.- Sturge-Weber Syndrome.- Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia).- Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation).- Blue Rubber Bleb Nevus Syndrome (Brbns).- Wyburn-Mason Syndrome.- Maffucci Syndrome.- Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism).- Phylloid Hypomelanosis.- Incontinentia Pigmenti.- Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS).- Leopard Syndrome.- Nevus of OTA.- Phacomatosis Pigmentokeratotica.- Phakomatosis Pigmentovascularis.- Speckled Lentiginous Nevus Syndrome.- Cutis Tricolor (Ruggieri-Happle Syndrome).- Neurocutaneous Melanosis.- Genetics of Pten Hamartoma Tumor Syndrome (PHTS).- Lhermitte-Duclos and Cowden Disease Complex.- Bannayan-Riley-Ruvalcaba Syndrome.- Encephalocraniocutaneous Lipomatosis (Haberland Syndrome).- Proteus Syndrome.- Epidermal Nevus Syndromes.- Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome).- Inflammatory Linear Verrucous Epidermal Nevus (Ilven).- Nevus Comedonicus Syndrome.- Becker’s Nevus Syndrome (Pigmentary Hairy Epidermal Nevus).- Child Syndrome.- Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2).- SjÖgren-Larsson Syndrome.- Kid Syndrome (Keratitis-Ichthyosis-Deafness).- Papillon-Lefèvre Syndrome(PLS).- Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency).- Darier’s Disease.- Dyskeratosis Congenita.- Nevoid Basal Cell Carcinoma (Gorlin) Syndrome.- Multiple Endocrine Neoplasia Type 2B.- Turcot Syndrome.- Degos’ Disease (Malignant Atrophic Papulosis).- Ataxia-Telangiectasia.- Nijmegen Breakage Syndrome.- Xeroderma Pigmentosum.- Cockayne Syndrome.- Trichothiodystrophy.- Progeria and Progeroid Syndromes (Premature Ageing Disorders).- Focal Dermal Hypoplasia Syndrome (Goltz Syndrome).- Ehlers-Danlos Syndromes.- Lipoid proteinosis.- Progressive facial hemiatrophy (parry-romberg syndrome).- Linear scleroderma (morphoea) “en coup de sabre”.- Unilateral Somatic and Intracranial Hypoplasia.- Oculocerebrocutaneous Syndrome (Delleman Syndrome).- Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome).- Macrodactyly-Lipofibromatous Hamartoma of Nerves.- Chime Syndrome (Zunich Syndrome).- Hypohidrotic Ectodermal Dysplasia (HED).- Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway.- Anderson-Fabry Disease.- Cerebrotendinous Xanthomatosis.- Giant Axonal Neuropathy.- Lesch-Nyhan Syndrome.- The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders.- Skin Involvement as a Clinical Marker of Neuromuscular Disorders.
GENETICS OF PTEN HAMARTOMA TUMOR SYNDROME (PHTS) (p. 483)
Corrado Romano
Unit of Paediatrics and Medical Genetics, IRCCS OASI Maria Santissima, Troina, Italy
Introduction
PTEN hamartoma tumor syndrome (PHTS) (Marsh et al. 1999) can be defined as a syndromic condition including one or more hamartomas which has its biological basis in a germline mutation of the Phosphatase and Tensin Homolog deleted on Chromosome 10 (PTEN) gene. Following such assumption, PHTS includes patients with the previous diagnosis of Cowden syndrome (CS) (Weary et al. 1972), Bannayan-Riley-Ruvalcaba syndrome (BRRS) (Cohen 1990), Proteus syndrome (PS) (Wiedemann et al. 1983), Proteus-like syndrome (PLS) (Zhou et al. 2000) and Lhermitte–Duclos syndrome (LDS) (Dastur et al. 1975). Conversely, those conditions not including hamartomas within their phenotype but presenting with a PTEN mutation (Butler et al. 2005) cannot be considered as part of the PHTS spectrum. Currently, failure to detect a PTEN mutation doesn’t imply the ruling out of a clinical diagnosis of CS, BRRS, PS, PLS or LDS in patients who fulfill the clinical diagnostic criteria for these conditions, however, the term PHTS should be avoided in this case.
The PHTS
CS, BRRS, PS, PLS and LDS are extensively addressed in other chapters of this book. The aim of this paragraph is to make the reader aware of how the discovery of PTEN gene has changed the understanding of the above mentioned conditions and has prompted the need of using the new definition of PHTS. The International Cowden Consortium proposed in 1995 a set of operational criteria for the diagnosis of CS cases and families aimed at the search for the CS gene (Nelen et al. 1996, Liaw et al. 1997). The importance and robustness of these criteria are highlighted by the PTEN mutation rate, which is 80% (Liaw et al. 1997, Marsh et al. 1998b), when they are administered strictly, whereas is 10–50% (Tsou et al. 1997, Lynch et al. 1997,Nelen et al. 1997), when they are not used. A study has been performed in 1998 on CS-like families (Marsh et al. 1998a), in order to increase the knowledge about the PTEN mutation clinical spectrum. One of the 64 CS-like cases was found to have a germline PTEN mutation. Bilateral breast cancer, follicular thyroid carcinoma, and endometrial adenocarcinoma were running in that family. Five out of 103 (5%) women with multiple primary cancers were found to have PTEN germline missense mutations, with proven resulting loss of function (De Vivo et al. 2000). Two of these five cases had endometrial cancer. Consequently, PTEN germline mutations can be found in hamartomatous conditions not fulfilling the diagnostic criteria of CS, and endometrial carcinoma might be an important part of CS, increasing the probability of finding a PTEN mutation in CS-like cases. The International Cowden Consortium has included, in the version released during year 2000, endometrial carcinoma in the operational criteria for the diagnosis of CS.
