Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Ipertrofia clitoridea in bambina affetta da neurofibromatosi di tipo 1

HYPERTROPHY OF THE CLITORIS IN A FEMALE WITH NEUROFIBROMATOSIS 1

E. Ballerini1, R. Luksch2

1Pediatra di famiglia, Milano;
2Divisione di Oncologia Pediatrica, Istituto Nazionale dei Tumori, Milano

Novembre 2006 - pagg. 601 -602

Abstract
We report the case of NF1 in a 21 month old female, who presented with hypertrophy of the clitoris. The work-up evaluations revealed the presence of multiple pelvic and abdominal neurofibromas and concomitant histologically assessed presacral ganglioneuroma. Despide of multiple treatments, including chemotherapy, radiotherapy and antiangiogenic drug, the neurofibromas were in slow but continuous numerical and volumetric progression. NF1 is the most frequent syndrome at dominant autosomical transmission at variable penetrance, with a wide spectrum of clinical presentations varying from absent or mild symptoms, to severe disability.
Parole chiave
Hypertrophy of the clitoris Neurofibromatosis 1 Plexiform neurofibroma
Suggerite dall'AI
genetic disease malattia genetica neurofibromatosi tipo 1 NF1
Classificazione MeSH
Chemical Actions and Uses Pharmacologic Actions Therapeutic Uses Antineoplastic Agents (8)
Urogenital System Genitalia Genitalia, Female Vulva Clitoris (4)
Neoplasms Neoplasms by Histologic Type Neoplasms, Germ Cell and Embryonal Neuroectodermal Tumors Neoplasms, Neuroepithelial Ganglioneuroma (2)
Genetic Phenomena Genetic Structures Genome Genome Components Genes Genes, Neoplasm
Pathological Conditions, Signs and Symptoms Pathological Conditions, Anatomical Hypertrophy (14)
Nervous System Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Peripheral Nervous System Neoplasms Nerve Sheath Neoplasms Neurofibroma
Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Nerve Sheath Neoplasms Neurofibroma Neurofibromatoses
Neoplasms Neoplasms by Site Pelvic Neoplasms (3)
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Corrispondenza: emanuela.ballerini@crs.lombardia.it