TY - JOUR
T1 - Recognition and diagnosis of neuro-ichthyotic syndromes
AU - Rizzo, William B.
AU - Jenkens, Sabrinamalone
AU - Boucher, Philip
PY - 2012
Y1 - 2012
N2 - The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease.
AB - The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease.
KW - ichthyosis
KW - lipids
KW - mutation
KW - myelin
KW - skin
UR - http://www.scopus.com/inward/record.url?scp=84858131003&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84858131003&partnerID=8YFLogxK
U2 - 10.1055/s-0032-1306390
DO - 10.1055/s-0032-1306390
M3 - Article
C2 - 22422210
AN - SCOPUS:84858131003
VL - 32
SP - 75
EP - 84
JO - Seminars in Neurology
JF - Seminars in Neurology
SN - 0271-8235
IS - 1
ER -