Generalized Mosaic Neurofibromatosis Type 1: A Rare Case Report

Anupama Karki,Bhaskar Mm Kayastha,Laila Lama,Niraj Parajuli,Rushma Shrestha

doi:10.3126/bjhs.v3i1.19769

Anupama Karki, Bhaskar Mm Kayastha + Show 3 more

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https://doi.org/10.3126/bjhs.v3i1.19769

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Abstract

Neurofibromatosis (NF) consists of group of genetically inherited disorders all of which is characterized by occurrence of nerve sheath tumors. There are eight different subtypes of neurofibromatosis. Segmental NF, a rare mosaic pattern of NF- type1 (NF1) is diagnosed in individuals who have typical features of NF1 restricted to one part of the body and whose parents are both unaffected. But recently the nomenclature has been changed to mosaic NF. We report a case of neurofibromatosis following the lines of blaschko. To the best of our knowledge, no such case report has been published till date of generalized mosaic NF following lines of blaschko's bilaterally symmetrically. BJHS 2018;3(1)5 :390-392

Highlights

Neurofibromatosis(NF) consists of group of gene cally inherited disorders all of which is characterized by occurrence of nerve sheath tumors.The mode of inheritance is autosomal dominant with a high rate of new muta on and variable expression.[1]
We report a case of neurofibromatosis following the lines of blaschko
Segmental neurofibromatosis is a rare mosaic pa ern of NF- type1 (NF1) which presents with typical features of NF1 restricted to one part of the body and whose parents are both unaffected.[6,7]

Summary

INTRODUCTION

Neurofibromatosis(NF) consists of group of gene cally inherited disorders all of which is characterized by occurrence of nerve sheath tumors.The mode of inheritance is autosomal dominant with a high rate of new muta on and variable expression.[1]. We report a case of 52 years old male who presented with freckling, mul ple len gines, café-au-lait macules (CALM) and neurofibroma in a blaschkoid pa ern bilaterally, which to our knowledge has not been reported ll date. On further examina on for signs of fungal infec on elsewhere, mul plecafé-au-lait macules and freckles along with len gines were noted. There were mul ple len gines and freckles following a pa ern extending from the forearm, involving the axilla bilaterally and converging in the mid-abdomen. (Figure 1a) grouped len gines following a linear pa ern was noted in the back. (Figure 2) Mul ple so skin colored nodules were noted on right side of chest and abdomen. Pa ent was explained on the course and prognosis of the disease and was advised for regular follow-up

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