Spinal lipoma as a dysembryogenetic anomaly

Four unusual cases of ectopic iliac rib within the spinal lipoma

Andrea Accogli, Marco Pavanello, Patrizia Accorsi, Patrizia De Marco, Elisa Merello, Mattia Pacetti, Paolo Nozza, Chiara Fiorillo, Lorenzo Pinelli, Armando Cama, Andrea Rossi, Martin Catala, Valeria Capra

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Congenital spinal lipomas are closed spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.

Original languageEnglish
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
DOIs
Publication statusAccepted/In press - 2016

Fingerprint

Lipoma
Ribs
Neural Tube Defects
Phenotype
Cauda Equina
Striated Muscle
Cartilage
Animal Models
Bone and Bones

Keywords

  • Ectopic rib
  • Lipomyelomeningocele
  • Lipomyeloschisis
  • Neural tube defects
  • Spinal lipomas

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology

Cite this

@article{1a1c443ffbec4e1e929f80b83a087d60,
title = "Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma",
abstract = "Background: Congenital spinal lipomas are closed spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.",
keywords = "Ectopic rib, Lipomyelomeningocele, Lipomyeloschisis, Neural tube defects, Spinal lipomas",
author = "Andrea Accogli and Marco Pavanello and Patrizia Accorsi and {De Marco}, Patrizia and Elisa Merello and Mattia Pacetti and Paolo Nozza and Chiara Fiorillo and Lorenzo Pinelli and Armando Cama and Andrea Rossi and Martin Catala and Valeria Capra",
year = "2016",
doi = "10.1002/bdra.23489",
language = "English",
journal = "Teratology",
issn = "1542-0752",
publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - Spinal lipoma as a dysembryogenetic anomaly

T2 - Four unusual cases of ectopic iliac rib within the spinal lipoma

AU - Accogli, Andrea

AU - Pavanello, Marco

AU - Accorsi, Patrizia

AU - De Marco, Patrizia

AU - Merello, Elisa

AU - Pacetti, Mattia

AU - Nozza, Paolo

AU - Fiorillo, Chiara

AU - Pinelli, Lorenzo

AU - Cama, Armando

AU - Rossi, Andrea

AU - Catala, Martin

AU - Capra, Valeria

PY - 2016

Y1 - 2016

N2 - Background: Congenital spinal lipomas are closed spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.

AB - Background: Congenital spinal lipomas are closed spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.

KW - Ectopic rib

KW - Lipomyelomeningocele

KW - Lipomyeloschisis

KW - Neural tube defects

KW - Spinal lipomas

UR - http://www.scopus.com/inward/record.url?scp=84963593150&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84963593150&partnerID=8YFLogxK

U2 - 10.1002/bdra.23489

DO - 10.1002/bdra.23489

M3 - Article

JO - Teratology

JF - Teratology

SN - 1542-0752

ER -