Article
Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.
Clinical and experimental dermatology - 1 Oct 2017
Tripolszki K, Farkas K, Sulák A, Szolnoky G, Duga B, Melegh B, Knox R G, Parker V E R, Semple R K, Kemény L, Széll M, Nagy N
Abstract excerpt
Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over her whole body and the clinical features of unilateral overgrowth involving her entire left leg. This unusual phenotype suggested either the atypical form of NF1 or the coexistence of NF1...
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