Titlebook: Neurocutaneous Disorders; Phakomatoses & Hamar Martino Ruggieri,Ignacio Pascual-Castroviejo,Conce Book 2008 Springer-Verlag Vienna 2008 Hyp

Entreaty

招募

The Tuberous Sclerosis Complex,addition of the term . (first introduced in 1942 by the pathologist Moolten) emphasizes the multisystem involvement and variable expression of the disease, which “may affect any human organ with well-circumscribed, benign, non-invasive lesions known as hamartias and hamartomas” (.). The skin, brain,

amenity

Von Hippel-Lindau Disease,arm of chromosome 3. It is characterized by the development of central nervous system (CNS) and visceral lesions. CNS lesions include retinal, cerebellar, brainstem and spinal hemangioblastomas, and endolymphatic sac tumors (ELSTs). Visceral lesions include renal cell carcinomas (RCC), renal cysts,

cutlery

Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena),ecause all three have various types of vascular malformations and overgrowth involving the limbs in Klippel-Tranaunay and Parkes Weber syndromes and the head (but also other body regions) in Sturge-Weber syndrome (., .). Besides Sturge-Weber syndrome the other two conditions (or three if one include

樂器演奏者

卷發(fā)

Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia),escribed more than a century ago as a rare condition producing minor discomfort for affected people. Nowadays, this disorder is considered to be more common than previously thought, and its association to brain, liver and pulmonary lesions are sources of substantial morbidity and mortality and repre

合唱團(tuán)

archetype

Wyburn-Mason Syndrome,in; (2) vascular abnormalities of the retina, optic nerve, orbit, optic chiasm and tract; and (3) multiple cutaneous nevi consisting either of faint reddish-bluish discoloration or dilated enlarged superficial veins involving the trigeminal region (.).

頑固

Maffucci Syndrome,or lymphangiomas, as described by (.). Both lesions tend to have an unilateral predominance (.). Enchondromas are benign cartilaginous neoplasms and occur mainly in the tubular bones of hands and feet. Their presence in long bones can result in shortening and deformation of the limbs (., .). Nowaday

Monocle

Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism),f Blaschko (.). Blaschko’s lines represent a non-random developmental system of linear and/or whorled streaks first described in 1901 (.) as a constant pattern of cutaneous markings characterising the distribution of various linear and segmental skin disorders (.; .).