Segmental neurofibromatosis (original) (raw)
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Segmental Neurofibromatosis: Atypical Localisation
Turkish Journal of Dermatology / Türk Dermatoloji Dergisi, 2015
Neurofibromatosis (NF) is a genetic disease leading pathological findings in skin, soft tissue, bone and nervous system by affecting neural crest cells. Due to its heterogeneity neurofibromatosis was divided into eight different subgroups (NF-I NF-VIII) by Riccardi. Segmental neurofibromatosis (NF type V) is characterized by cutaneous neurofibromas and Café-au-lait spots limited with a segment of dermatome. Here we report this case with numerous, painless cutaneous nodules showing extension from the shoulder to the dorsal aspect of the right hand, since it a rare case.
Segmental neurofibromatosis: Report of two cases
Journal of Dermatology, 2006
Neurofibromatosis (NF), or von Recklinghausen's disease is comprised of a heterogeneous group of disorders, primarily affecting the skin, soft tissue, bone and central nervous system. Segmental neurofibromatosis (SN) is a rare form of NF, characterized by “café-au-lait” macules, freckles, and/or neurofibromas limited to a body segment. There are approximately 150 cases reported in the English published work. Bilateral segmental neurofibromatosis is a rare subtype of SN, manifesting with bilateral involvement of the body segments. Herein, we report two patients with SN; one associated with pectus excavatum, and the other case diagnosed as bilateral segmental neurofibromatosis. Asymmetry of the skull and thorax, kyphoscoliosis and segmental bone hypertrophy of the leg are skeletal abnormalities previously reported with SN. To the best of our knowledge, this is the first case of SN in association with pectus excavatum.
Journal of Pakistan Association of Dermatology, 2016
Neurofibromatosis (NF) is a group of rare genetic disorder of neural crest derived cells of which neurofibromatosis type-1 is the most common. Riccardi classified NF into eight subtypes (NF-I to NF-VIII), of which NF-V is segmental neurofibromatosis (SNF). SNF is rare and facial involvement is even rarer. A 52-year-old man presented with complaints of numerous swellings on the right side of his face for the last 20 years. On examination, there were many papules and papulo-nodules only on the right cheek. The swellings were non-tender, firm on palpation and measured from 3 mm to 12 mm in diameter. A biopsy was taken from one of the nodules; the slide revealed non-encapsulated but well circumscribed proliferation of spindle cells with wavy, buckled nuclei arranged in wavy fascicles in myxoid background. This case of facial SNF is described not only for its extreme rarity, but also as an important differential diagnosis for facial tumor-like papules. We have also reviewed the literatur...
Nepal Medical College Journal, 2019
Segmental neurofibromatosis (SNF) is a rare manifestation of neurofibromatosis. Very few cases have been reported in older population. Here, we present a case of 73 year old male with four years history of multiple, skin coloured, dome shaped, soft nodules situated over left lumbar region. The histopathological evaluation of the excised nodule revealed neurofibroma. Recognition of this condition is important, as there may be associated systemic involvement, malignancies and possibility of transmission to the offspring.
Segmental Neurofibromatosis Clinically Appearing as a Nevus Spilus
International Journal of Dermatology, 1994
A 14-year-old African-American man presented with a hyperpigmented band, 6 cm in width, whicb had been present since birth. It extended in a dermatomal T 10 to T 11 distribution from tbe umbilicus to the midline of tbe back. Numerous more deeply pigmented macules and papules were scattered witbin the hyperpigmented band (Fig. 1). Family history was negative for neurofibromatosis or similar cutaneous lesions. Physical examination was unremarkable. Axillary freckling was absent. Ophthalmologic examination revealed no Lisch nodules. Biopsy of the hyperpigmented background showed basalar hyperpigmentation without an obvious increase in the number of melanocytes (Fig. 2). These features can be seen in cafe-au-lait macules or the more lightly pigmented areas of a nevus spilus. The hyperpigmented papule unexpectedly contained an ill-defined spindle cell tumor in the deep dermis (Fig. 3). The tumor consisted of small uniform wavy nuclei lying within a fine fibrocollagenous background with increased numbers of mast cells present (Fig. 4). DISCUSSION Neurofibromatosis, wbicb affects one in 3,000 to 4,000 people, was first described in 1882 by von Recklingbausen.'-^ Defining features of tbis disorder consist of multiple cafe-au-lait spots, multiple neurofibromas, and pigmented iris bamartomas (Liscb nodules). Often axillary freckling (Crowes' sign) can be seen as well. Otber clinical features may be seen: macrocepbaly, noncommunicating bydrocepbalus, intellectual bandicap, speech impediment, beadacbe, cerebrovascular abnormalities, and seizures are central nervous system manifestations. CNS tumors include optic glioma, astrocytoma, acoustic neuroma, meningioma, meduloblastonia, ependymoma, and neurilemoma. Skeletal abnormalities sucb as segmental hypertrophy, pseudoarthrosis, kypboscoliosis, and short stature may occur. Malignancies include neurofibrosarcoma, malignant schwannoma, neuroblastoma, Wilms' tumor, rhabdomyosarcoma, various leukemias, and pbeochromo-From the Department of Dermatology, Rush-Presbyterian-St.
Hereditary segmental neurofibromatosis: a report of three cases in a family
BMJ Case Reports, 2019
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.
Segmental Spinal Neurofibromatosis 1: A Novel Phenotype
2021
Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF). The disease is characterized by features circumscribed to one or more body cutaneous and/or subcutaneous segments. This is a classic example of somatic mosaicism which occurs by postzygotic mutation of the NF1 gene late in the course of embryonic development affecting localized neural crest lines in the fetus. Our case series reported three novel patients who had segmental spinal expression of the disease classified as true mosaic/segmental NF1, along with their management plan treated at one of the largest NF1 center.