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CASE REPORT
Hereditary segmental neurofibromatosis: a report of three cases in a family
  1. Rashmi Jindal1,
  2. Nadia Shirazi2 and
  3. Kinnari Rawat3
  1. 1 Dermatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India
  2. 2 Pathology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India
  3. 3 Plastic Surgery, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India
  1. Correspondence to Dr Rashmi Jindal, rashmijindal98{at}gmail.com

Abstract

Hereditary segmental neurofibromatosis (SNF) is an extremely rare form of SNF with nine families reported till date. SNF is considered to be a result of mosaicism and hereditary transmission is possibly explained by increased susceptibility of mutations at neurofibromatosis gene loci. We report here three members of an Indian family with SNF. Our index case, a 20-year-old woman had multiple soft to firm papules and nodules over right shoulder associated with severe intermittent pain. Her father had three similar nodules over left upper arm and elder sister had two such nodules over right upper arm. The father and elder sister were incidentally diagnosed and they had never sought medical advice considering their lesions to be a familial trait. In the absence of symptoms, many familial cases of SNF are missed thus making any systematic analysis to ascertain its genetic basis difficult.

  • dermatology
  • genetics
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Footnotes

  • Contributors This is to state that RJ contributed in planning and conception of this case series. NS was involved in conception and conduct of this case series. KR has contributed in patient care and management. RJ, NS and KR have contributed in drafting of the manuscript and revisions with intellectual inputs and have approved the final version to be submitted for publication.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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