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Neurocutaneous Syndromes

Known as: Neurocutaneous Syndromes [Disease/Finding], Neuroectodermal Dysplasia Syndromes, Phakomatosis 
A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include… 
National Institutes of Health

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Narrower (11)

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeElejalde DiseaseEncephalocraniocutaneous lipomatosisGomez Lopez Hernandez syndrome
Congenital neurologic anomaliesIn BloodMicrobiologicalNeurodermatitis

Papers overview

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Review
2009
Review
2009
Consensus Statement on Diagnostic Criteria for PHACE Syndrome
OBJECTIVES: A subgroup of patients with infantile hemangiomas have associated structural anomalies of the brain, cerebral… 
Review
2001
Review
2001
Comparative Study of Two Series of Distally Based Fasciocutaneous Flaps for Coverage of the Lower One‐Fourth of the Leg, the Ankle, and the Foot
Skin defects over the lower one‐fourth of the leg and over the foot are difficult to cover. Two types of pedicled fasciocutaneous… 
Review
2001
Review
2001
Giant Congenital Melanocytic Nevi: The Significance of Neurocutaneous Melanosis in Neurologically Asymptomatic Children
Patients with a giant congenital melanocytic nevus can develop melanotic tumors characterized by central nervous system… 
Highly Cited
1995
Highly Cited
1995
Intraneural perineurioma: A clonal neoplasm associated with abnormalities of chromosome 22
The nature of perineurioma, variably termed "localized hypertrophic neuropathy," "intraneural neurofibroma," and "hypertrophic… 
Review
1992
Review
1992
MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review.
Findings on cranial magnetic resonance (MR) images were correlated with known histopathologic findings in 42 patients with… 
Review
1991
Review
1991
Neurocutaneous melanosis: definition and review of the literature.
Highly Cited
1977
Highly Cited
1977
[The phakomatoses].
Highly Cited
1970
Highly Cited
1970
Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis.
ACONGENITAL neurocutaneous disorder with the distinguishing histopathologic features of dysgenesis and neoplasia of the adipose… 
Highly Cited
1970
Highly Cited
1970
Recognizable patterns of human malformation: genetic, embryologic, and clinical aspects.
A malformation explosion is upon us. We are being inundated by a flood of new syndromes, appearing in more journals than we can… 
Highly Cited
1966
Highly Cited
1966
A new neurocutaneous syndrome.
IN 1963 Feuerstein and Mims reported two cases of a new neurocutaneous syndrome with linear nevus sebaceus, convulsions, and… 
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