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Updated: Jul 6, 2026

07:50
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Incontinentia pigmenti: case report]
D Portaleone1, E Taroni, S Micheli
1II Clinica Pediatrica, Università degli Studi, Milano. dario.portaleone@unimi.it
Abstract:
IP is an uncommon X-linked dominant disorder (incidence: 1/40.000 newborn). It is caused by mutations in NEMO. It is characterized by cutaneous lesions and dental, ocular, neurologic, nails, hair disorders. The ocular and neurologic sequelae represent the major morbidity in IP. We present a case-report with classical cutaneous features diagnostic for IP. The clinical, ophtalomologic and neurologic examinations revealed no other pathological manifestations.