Giant Congenital Melanocytic Nevus Treated With Trametinib

Pediatrics
Adnan MirKathleen Ludwig

Abstract

Giant congenital nevi are melanocytic proliferations of the skin that may be complicated by melanoma, neurocutaneous melanocytosis, pain, pruritus, and disfigurement. Current treatment options include surgical resection and medical management of associated symptoms. There is limited efficacy in these modalities. No effective pharmacologic treatments are available for the treatment of these lesions. We present the case of a 7-year-old girl with a giant congenital melanocytic nevus that had an AKAP9-BRAF fusion and was treated with trametinib, which resulted in rapid resolution of the patient's lifelong, intractable pain and pruritus as well as dramatic improvement in the extent of her nevus.

References

Jul 16, 2004·Plastic and Reconstructive Surgery·Andrew J WattKevin C Chung
Jan 5, 2005·The Journal of Clinical Investigation·Raffaele CiampiYuri E Nikiforov
Jun 24, 2006·The British Journal of Dermatology·S KrengelT Schäfer
Feb 9, 2013·The Journal of Investigative Dermatology·Veronica A KinslerGudrun E Moore
Mar 28, 2013·Proceedings of the National Academy of Sciences of the United States of America·Angela J SievertAdam C Resnick
Apr 10, 2014·Acta Neuropathologica Communications·Heidi Vn Küsters-VandeveldeWilleke Am Blokx
Jun 25, 2014·Nature Reviews. Cancer·Matthew HolderfieldMartin McMahon
Dec 10, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Cláudia M SalgadoMiguel Reyes-Múgica
Apr 19, 2015·Clinics in Dermatology·Julie V Schaffer
Sep 1, 2015·International Journal of Cancer. Journal International Du Cancer·Jeffrey S RossPhilip J Stephens
Aug 9, 2017·Journal of the National Comprehensive Cancer Network : JNCCN·Anastasia DrobyshevaJason Y Park
Mar 9, 2018·Case Reports in Dermatology·Girish Gulab MeshramKanwaljeet Singh Hura

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Citations

Jul 22, 2020·Current Opinion in Pediatrics·Danna MoustafaElena B Hawryluk
Oct 14, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Martino RuggieriConcezio Di Rocco
Feb 17, 2021·The Australasian Journal of Dermatology·Banu FarabiBabar Rao
Jun 29, 2021·Curēus·Hina Mumtaz HashmiSidra Idrees
Feb 9, 2020·Annales de dermatologie et de vénéréologie·A Phan
Oct 3, 2021·NeoReviews·Kaiane A Habeshian, A Yasmine Kirkorian
Dec 7, 2021·Pediatric Blood & Cancer·Klara-Maria HanftSimone Hettmer

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