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Hamartoma Involving the Pseudarthrosis Site in Patients With Neurofibromatosis Type 1

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Pediatric and Developmental Pathology

Abstract

Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.

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Authors and Affiliations

  1. División de Genética, Centro de Investigación Biomédica, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Colonia Independencia, CP: 44340, Guadalajara, México

    Rocío P. Mariaud-Schmidt, Emilio Bitar & Patricio Barros-Núñez

  2. Laboratorio Regional de Citología Exfoliativa, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Colonia Independencia, CP: 44340, Guadalajara, México

    Sergio Rosales-Quintana

  3. Instituto Dermatológico Dr. José Barba Rubio, Federalismo norte 3102, Colonia Guadalupana, CP: 45190, Guadalajara, México

    Daniel Fajardo & Amado González-Mendoza

  4. Hospital de Pediatría, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Colonia Independencia, CP: 44340, Guadalajara, México

    Gilberto Chiapa-Robles

  5. Instituto de Investigación en Odontologia, Universidad de Guadalajara, José Marla Echauri y Salvador de Quevedo y Zubieta, Colonia Independencia, CP: 44340, Guadalajara, México

    Rocío P. Mariaud-Schmidt

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  1. Rocío P. Mariaud-Schmidt
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  2. Sergio Rosales-Quintana
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  3. Emilio Bitar
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  6. Amado González-Mendoza
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  7. Patricio Barros-Núñez
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Correspondence to Patricio Barros-Núñez.

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Mariaud-Schmidt, R.P., Rosales-Quintana, S., Bitar, E. et al. Hamartoma Involving the Pseudarthrosis Site in Patients With Neurofibromatosis Type 1. Pediatr Dev Pathol 8, 190–196 (2005). https://doi.org/10.1007/s10024-004-1004-1

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  • DOI: https://doi.org/10.1007/s10024-004-1004-1

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