Osteoartropatía hipertrófica primaria (paquidermoperiostosis). Aportación de 2 casos familiares y revisión de la literatura

Rodríguez, Norberto Gómez; Ruán, Jesús Ibáñez; Pérez, Marisol González

doi:10.1016/j.reuma.2009.01.007

Cited by 26 publications

(4 citation statements)

References 35 publications

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“…Celecoxib is a NSAID which specifically inhibit COX-2 and reduce PGE 2 generation. Our results support published individual case reports that specific COX-2 inhibitor NSAIDs treatment, such as celecoxib, etoricoxib etc, could relief PDP patients’ suffer and could not worry about its side-effects on digestive system 13 , 43 , 44 .…”

Section: Discussionsupporting

confidence: 90%

“…Three independent reports showed hypertrophic gastric mucosa in PDP patients and gastric biopsy revealed gastric mucosa hyperplasia of the surface epithelium, cystic changes, stromal edema with inflammatory cells infiltration 10 – 12 . Other three PDP patients with hypertrophic gastritis were also respectively reported but they didn’t receive histological examination 13 – 15 . In addition, digestive system disease, such as ulcer, juvenile polyps, gastric cancer, Crohn’s disease and protein-losing enteropathy, were also reported occurring as occasional associations of PDP 16 – 18 .…”

Section: Introductionmentioning

confidence: 99%

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Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Huang

Wang

Cao

et al. 2017

Sci Rep

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Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha (TNFα) and receptor activator of nuclear factor kappa ligand (RANKL) expression were elevated in hypertrophic gastric mucosa. Two of eight patients who had severe arthralgia were treated with celecoxib. After three months, their arthralgia was partly relieved and IL-6, TNFα and RANKL expression were decreased in accordance with their relieved hypertrophic gastric mucosa. Our study broadens the variation spectrum of SLCO2A1 and suggests that the gastric mucosa hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be a considerable choice for PDP patients. We also revealed that IL-6, TNFα and RANKL may play important roles in the molecular mechanisms of gastric mucosa hyperplasia in PDP for the first time.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Huang

Wang

Cao

et al. 2017

Sci Rep

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“…Periostosis has a symmetric distribution and evolves in a centripetal fashion. Typically it is preservation of joint space and the absence of erosions or para-articular osteopenia 5 7 8…”

Section: Discussionmentioning

confidence: 99%

Cutis verticis gyrata as a clinical manifestation of Touraine-Solente-Gole’ syndrome (pachydermoperiostosis)

et al. 2013

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SUMMARYCutis verticis gyrata is a descriptive term for a condition of the scalp consisting of deep grooves and convolutions that resemble the surface of the brain. We present a case of a 22-year-old man who presented with pain and swelling of both knees and hands. Enlarged wrists, ankles and feet were also noted, along with facial seborrhoea, thickening of the skin and deformity of the fingers. Physical examination of the scalp showed a cerebriform appearance with accentuating folds and deep furrows (cutis verticis gyrata), thickening in the face, frontal and parietal regions. Bone enlargement of the hands, knees, ankles and feet was also found. Secondary causes of pachydermoperiostosis were negative. BACKGROUND

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“…Familial digital clubbing is a rare inherited genetic disorder that shows an autosomal recessive or a dominant inheritance pattern with variable penetrance, and may occur as part of the syndrome of primary hypertrophic osteoarthropathy (PHO) characterized by periostosis, pachydermia, and digital clubbing (1). In the familial form, a significant gender bias has been noted where affected males predominate (7:1 male: female ratio) (2, 3). Inherited genetic defects in components of the prostaglandin degradation pathway have been associated with familial PHO/digital clubbing in diverse patient populations from around the world (1–14).…”

Section: Introductionmentioning

confidence: 99%

Inactivating Mutation in the Prostaglandin Transporter Gene, SLCO2A1, Associated with Familial Digital Clubbing, Colon Neoplasia, and NSAID Resistance

Guda

Fink²,

Milne³

et al. 2014

Cancer Prevention Research

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HPGD and SLCO2A1 genes encode components of the prostaglandin catabolic pathway, HPGD encoding the degradative enzyme 15-PGDH, and SLCO2A1 encoding the prostaglandin transporter PGT that brings substrate to 15-PGDH. HPGD null mice show increased PGE2, marked susceptibility to developing colon tumors, and resistance to colon tumor prevention by NSAIDs. But in humans, HPGD and SLCO2A1 mutations have only been associated with familial digital clubbing. We here characterize a family with digital clubbing and early onset colon neoplasia. Whole exome sequencing identified a heterozygous nonsense mutation (G104X) in the SLCO2A1 gene segregating in three males with digital clubbing. Two of these males further demonstrated notably early onset colon neoplasia, one with an early onset colon cancer and another with an early onset sessile serrated colon adenoma. Two females also carried the mutation, and both these women developed sessile serrated colon adenomas without any digital clubbing. Males with clubbing also showed marked elevations in the levels of urinary prostaglandin E2 metabolite, PGE-M; whereas, female mutation carriers were in the normal range. Furthermore, in the male proband urinary PGE-M remained markedly elevated during NSAID treatment with either celecoxib or sulindac. Thus, in this human kindred, a null SLCO2A1 allele mimics the phenotype of the related HPGD null mouse, with increased prostaglandin levels that cannot be normalized by NSAID therapy, plus with increased colon neoplasia. The development of early onset colon neoplasia in male and female human SLCO2A1 mutation carriers suggests that disordered prostaglandin catabolism can mediate inherited susceptibility to colon neoplasia in man.

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Osteoartropatía hipertrófica primaria (paquidermoperiostosis). Aportación de 2 casos familiares y revisión de la literatura

Cited by 26 publications

References 35 publications

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Cutis verticis gyrata as a clinical manifestation of Touraine-Solente-Gole’ syndrome (pachydermoperiostosis)

Inactivating Mutation in the Prostaglandin Transporter Gene, SLCO2A1, Associated with Familial Digital Clubbing, Colon Neoplasia, and NSAID Resistance

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