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ISSN: 2643-6760

Surgery & Case Studies: Open Access Journal

Case Report(ISSN: 2643-6760)

Segmental Neurofibromatosis: Two Moroccan Cases Volume 1 - Issue 4

El Anzi Ouiam*, Maouni Safae, Sqalli Asmae, Meziane Mariam and Hassam Badredine

  • Department of Dermatology-Venereology, Morocco

Received: November 22, 2018;   Published: November 28, 2018

Corresponding author: El Anzi Ouiam, Department of Dermatology-Venereology, Morocco

DOI: 10.32474/SCSOAJ.2018.01.000119

 

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Abstract

Segmental neurofibromatosis (SN) or type V Neurofibromatosis is a genodermatos most often characterized by the presence of neurofibromas, more rarely café au lait spots, and sometimes lentigines limited to a limited body region. We report two Moroccan cases of true Segmental Neurofibromatosis with only pigmented lesions.

Keywords: Segmental Neurofibromatosis; Type V Neurofibromatosis; Café au lait spots; Neurofibromas; Lentigines

Introduction

Segmental neurofibromatosis (SN) or type V Neurofibromatosis is a genodermatos most often characterized by the presence of neurofibromas, more rarely café au lait spots, and sometimes lentigines limited to a limited body region, or more rarely on several bilateral segments. It is exceptional, with an estimated prevalence between 0.0014-0.002%. We report two Moroccan cases of SN.

Clinical case

Observation N 1: A 10-year-old boy, with no family history of Neurofibromatosis (NF), who has had numerous café-au-lait spots and lentigines at the left lumbar region since the age of 2. No ophthalmologic and neurological symptoms of neurofibromatosis were diagnosed. The diagnosis of segmental neurofibromatosis (NF-5) has therefore been established.

Observation N2: A 35-year-old woman with no concept of consanguinity, followed in neurology for a multiple sclerosis under treatment presented with a 25-year history of coffee-milk spots and lentigines at the right lumbar region.

Comments: The term segmental neurofibromatosis was introduced by Miller and Sparkes in 1977 [1-2]. Segmental NF1 is caused by somatic mosaicism due to a postzygotic mutation in the NF1 gene. This results in some cells containing two normal NF1 genes and other cells having a mutation in one copy of the NF1 gene [3]. Due to the multiplicity of clinical manifestations of NF, Riccardi ranked NF in eight categories in 1982. Type V was reserved for the NS [4-2]. In 1987, [5] Have classified the NS in four variants: true segmental, Localized with deep evolution, hereditary and bilateral. Both of our patients had a true NS.

The most common clinical manifestation of NS is: neurofibromas, and less frequently, coffee-au-lait spots.Clinically, patients can be divided into four groups: NS with only pigmented lesions, NS with only neurofibromas, NS with pigmented lesions and neurofibromas, and NS with isolated plexiform neurofibromas [1,2,4]. Our patients have only pigmented lesions. Systemic involvement in NS is rare, except in patients with plexiform neurofibromas. NF I and NS may be associated with malignant tumors such as peripheral nerve sheath tumor, melanoma, breast cancer, colon cancer, stomach cancer, lung cancer and Hodgkin lymphoma [6] (Figures 1 & 2).

Figure 1: Patient 1 : Multiple lentigines and café au lait spots on the left lumbar region.

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Figure 2: Patient 2: Multiple lentigines and café au lait spots on the right lumbar region.

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Conclusion

We present the first two cases of Moroccan SN. The risk of association with malignant tumors or with systemic involvement is not confirmed, so patients presenting SN must have a long-term medical follow-up.

References

  1. Miller RM, Sparkes RS (1977) Segmental neurofibromatosis. Arch Dermatol 123: 837-838.
  2. Michał Sobjanek, Dobosz Kawałko M, Michajłowski I, Pęksa R, Nowicki R (2014) Segmental neurofibromatosis. Postep Derm Alergol 31(6): 410- 412.
  3. He D, Li Y, Yu Y, Cai G, Ouyang F, et al. (2010) Segmental neurofibromatosis type 1 complicated with multiple intracranial arteriovenous fistulas: a case study, Clinical Neurology and Neurosurgery 168: 108-111.
  4. Riccardi VM (1982) Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer 7: 1-34.
  5. Roth RR, Martines R, James WD (1987) Segmental neurofibromatosis. Arch Dermatol 123: 917-920.
  6. Dang JD, Cohen PR (2010) Segmental neurofibromatosis and malignancy. Skinmed 8(3): 156-159.
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