[Phacomatosis].
Phacomatosis include a group of hereditary disorders mainly characterized by abnormalities of ectodermal origin. Among these diseases, we will more precisely put the stress on neurofibromatosis and tuberous sclerosis complex, which corresponds to autosomal dominant disorders, with well defined clinical presentation and pathophysiology. In the absence of curative treatment, these diseases require life-long multidisciplinary management, adapted to age leading to earlier diagnosis and treatment of complications.
Valeyrie-Allanore
Laurence
L
Centre de référence neurofibromatoses-Ile-de-France, service de dermatologie, hôpital Henri-Mondor, 94010 Créteil Cedex.
Wolkenstein
Pierre
P
D006801:Humans; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*