A new syndrome of Crohn's disease and pachydermoperiostosis in a family

R. F. Compton, W. J. Sandborn, H. Yang, Noralane Morey Lindor, W. J. Tremaine, M. D P Davis, A. A. Khalil, N. A. Tountas, D. B. Tyan, C. J. Landers, K. D. Taylor, T. R. Viggiano, Eric Lawrence Matteson, A. L. Schroeter, S. E. Plevy, F. Cominelli, S. R. Targan, J. I. Rotter

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Abstract

Few syndromic associations with Crohn's disease are described. The aim of this study was to characterize a new syndrome of Crohn's disease associated with pachydermoperiostosis in 3 brothers. Three probands, 6 siblings, both parents, 20 of 21 third-generation relatives, and 9 spousal controls were evaluated. Serological evaluation for antineutrophil cytoplasmic antibodies and human leukocyte antigens as well as genetic testing for tumor necrosis factor microsatellites, intercellular adhesion molecule 1 polymorphisms, the interleukin 1 receptor antagonist gene, and the interleukin 1β gene were performed. Only the 3 probands were affected and developed pachydermoperiostosis between ages 14 and 17 years. Pachydermoperiostosis preceded Crohn's ileocolitis by 6 and 20 years in two probands, excluding secondary hypertrophic osteoarthropathy. Two probands were antineutrophil cytoplasmic antibody positive vs. 1 of 27 unaffected relatives (P < 0.001, χ2). Haplotypes for human leukocyte antigen and tumor necrosis factor microsatellites were discordant. The probands' generation was homozygous for the common allele 1 of the interleukin 1 receptor antagonist and interleukin 1β genes. Two probands carried a rare polymorphism of the intercellular adhesion molecule 1 gene. A new syndrome of Crohn's disease and pachydermoperiostosis associated with antineutrophil cytoplasmic antibodies is described. Inheritance is most likely autosomal recessive by pedigree. No clear association was found between this syndrome and the gene regions evaluated.

Original languageEnglish (US)
Pages (from-to)241-249
Number of pages9
JournalGastroenterology
Volume112
Issue number1
StatePublished - 1997

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Primary Hypertrophic Osteoarthropathy
Crohn Disease
Antineutrophil Cytoplasmic Antibodies
Interleukin-1 Receptors
Genes
Intercellular Adhesion Molecule-1
HLA Antigens
Interleukin-1
Microsatellite Repeats
Secondary Hypertrophic Osteoarthropathy
Tumor Necrosis Factor-alpha
Medical Genetics
Genetic Testing
Pedigree
Haplotypes
Alleles

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Compton, R. F., Sandborn, W. J., Yang, H., Lindor, N. M., Tremaine, W. J., Davis, M. D. P., ... Rotter, J. I. (1997). A new syndrome of Crohn's disease and pachydermoperiostosis in a family. Gastroenterology, 112(1), 241-249.

A new syndrome of Crohn's disease and pachydermoperiostosis in a family. / Compton, R. F.; Sandborn, W. J.; Yang, H.; Lindor, Noralane Morey; Tremaine, W. J.; Davis, M. D P; Khalil, A. A.; Tountas, N. A.; Tyan, D. B.; Landers, C. J.; Taylor, K. D.; Viggiano, T. R.; Matteson, Eric Lawrence; Schroeter, A. L.; Plevy, S. E.; Cominelli, F.; Targan, S. R.; Rotter, J. I.

In: Gastroenterology, Vol. 112, No. 1, 1997, p. 241-249.

Research output: Contribution to journalArticle

Compton, RF, Sandborn, WJ, Yang, H, Lindor, NM, Tremaine, WJ, Davis, MDP, Khalil, AA, Tountas, NA, Tyan, DB, Landers, CJ, Taylor, KD, Viggiano, TR, Matteson, EL, Schroeter, AL, Plevy, SE, Cominelli, F, Targan, SR & Rotter, JI 1997, 'A new syndrome of Crohn's disease and pachydermoperiostosis in a family', Gastroenterology, vol. 112, no. 1, pp. 241-249.
Compton RF, Sandborn WJ, Yang H, Lindor NM, Tremaine WJ, Davis MDP et al. A new syndrome of Crohn's disease and pachydermoperiostosis in a family. Gastroenterology. 1997;112(1):241-249.
Compton, R. F. ; Sandborn, W. J. ; Yang, H. ; Lindor, Noralane Morey ; Tremaine, W. J. ; Davis, M. D P ; Khalil, A. A. ; Tountas, N. A. ; Tyan, D. B. ; Landers, C. J. ; Taylor, K. D. ; Viggiano, T. R. ; Matteson, Eric Lawrence ; Schroeter, A. L. ; Plevy, S. E. ; Cominelli, F. ; Targan, S. R. ; Rotter, J. I. / A new syndrome of Crohn's disease and pachydermoperiostosis in a family. In: Gastroenterology. 1997 ; Vol. 112, No. 1. pp. 241-249.
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abstract = "Few syndromic associations with Crohn's disease are described. The aim of this study was to characterize a new syndrome of Crohn's disease associated with pachydermoperiostosis in 3 brothers. Three probands, 6 siblings, both parents, 20 of 21 third-generation relatives, and 9 spousal controls were evaluated. Serological evaluation for antineutrophil cytoplasmic antibodies and human leukocyte antigens as well as genetic testing for tumor necrosis factor microsatellites, intercellular adhesion molecule 1 polymorphisms, the interleukin 1 receptor antagonist gene, and the interleukin 1β gene were performed. Only the 3 probands were affected and developed pachydermoperiostosis between ages 14 and 17 years. Pachydermoperiostosis preceded Crohn's ileocolitis by 6 and 20 years in two probands, excluding secondary hypertrophic osteoarthropathy. Two probands were antineutrophil cytoplasmic antibody positive vs. 1 of 27 unaffected relatives (P < 0.001, χ2). Haplotypes for human leukocyte antigen and tumor necrosis factor microsatellites were discordant. The probands' generation was homozygous for the common allele 1 of the interleukin 1 receptor antagonist and interleukin 1β genes. Two probands carried a rare polymorphism of the intercellular adhesion molecule 1 gene. A new syndrome of Crohn's disease and pachydermoperiostosis associated with antineutrophil cytoplasmic antibodies is described. Inheritance is most likely autosomal recessive by pedigree. No clear association was found between this syndrome and the gene regions evaluated.",
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AU - Yang, H.

AU - Lindor, Noralane Morey

AU - Tremaine, W. J.

AU - Davis, M. D P

AU - Khalil, A. A.

AU - Tountas, N. A.

AU - Tyan, D. B.

AU - Landers, C. J.

AU - Taylor, K. D.

AU - Viggiano, T. R.

AU - Matteson, Eric Lawrence

AU - Schroeter, A. L.

AU - Plevy, S. E.

AU - Cominelli, F.

AU - Targan, S. R.

AU - Rotter, J. I.

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N2 - Few syndromic associations with Crohn's disease are described. The aim of this study was to characterize a new syndrome of Crohn's disease associated with pachydermoperiostosis in 3 brothers. Three probands, 6 siblings, both parents, 20 of 21 third-generation relatives, and 9 spousal controls were evaluated. Serological evaluation for antineutrophil cytoplasmic antibodies and human leukocyte antigens as well as genetic testing for tumor necrosis factor microsatellites, intercellular adhesion molecule 1 polymorphisms, the interleukin 1 receptor antagonist gene, and the interleukin 1β gene were performed. Only the 3 probands were affected and developed pachydermoperiostosis between ages 14 and 17 years. Pachydermoperiostosis preceded Crohn's ileocolitis by 6 and 20 years in two probands, excluding secondary hypertrophic osteoarthropathy. Two probands were antineutrophil cytoplasmic antibody positive vs. 1 of 27 unaffected relatives (P < 0.001, χ2). Haplotypes for human leukocyte antigen and tumor necrosis factor microsatellites were discordant. The probands' generation was homozygous for the common allele 1 of the interleukin 1 receptor antagonist and interleukin 1β genes. Two probands carried a rare polymorphism of the intercellular adhesion molecule 1 gene. A new syndrome of Crohn's disease and pachydermoperiostosis associated with antineutrophil cytoplasmic antibodies is described. Inheritance is most likely autosomal recessive by pedigree. No clear association was found between this syndrome and the gene regions evaluated.

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