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Cataracts in three children with a newly recognised neurocutaneous malformation phenotype with “cutis tricolor”
  1. M Ruggieri1,2,
  2. F Iannetti3,
  3. A Polizzi2,
  4. L Puzzo4,
  5. M Di Pietro5,
  6. R Caltabiano4,
  7. L Iannetti6,
  8. G Magro4,
  9. P Iannetti7
  1. 1
    Institute of Neurological Science, National Research Council, Catania, Italy
  2. 2
    Istituto Superiore di Sanita, Rome, Italy
  3. 3
    AOS Giovanni-Addolorata-Britannico, II Division of Ophthalmology, Rome, Italy
  4. 4
    “Department G.F. Ingrassia,” Section of Anatomic Pathology, University of Catania, Catania, Italy
  5. 5
    Institute of Ophthalmology, University of Catania, Catania, Italy
  6. 6
    Department of Ophthalmology, University of Rome “La Sapienza,” Rome, Italy
  7. 7
    Division of Paediatric Neurology, Department of Paediatrics, University of Rome “La Sapienza,” Rome, Italy
  1. Dr M Ruggieri, Institute of Neurological Science, Italian National Research Council, Viale Regina Margherita, 6, 95125 Catania, Italy; m.ruggieri{at}isn.cnr.it

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The term “cutis tricolor” describes the combination of congenital hyper- and hypopigmented lesions in the form of macules, patches or streaks, in close proximity to each other, in a background of normal skin.13 Today it is clear that not all cases of cutis tricolor represent one nosological entity.4 Cutis tricolor has been reported either as an isolated skin phenomenon or as a part of a neurocutaneous malformation syndrome (Cutis tricolor syndrome)2 3 in association with multiple congenital anomalies, including facial dysmorphism, neurological (eg, mild hypotonia, mild to moderate mental retardation, epilepsy and electroencephalographic anomalies) and behavioural abnormalities and specific skeletal defects consisting in skull, vertebral and long bones dysplasia.4 Possible subtypes of cutis tricolor (eg, cutis tricolor parvimaculata)—with smaller …

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