Primary pachydermoperiostosis with hypertrophic gastropathy and a sliding hiatal hernia

Gnanaraj, Pushpa; Karthikeyan, Subashini; Narasimhan, M. J.; Rajagopalan, V

doi:10.1111/j.1365-4632.2011.05106.x

Cited by 3 publications

(3 citation statements)

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“…Deposition of collagen fibers in soft tissue, interstitial edema, dilated small blood vessels, vascular wall hyperplasia and perivascular lymphocyte infiltration are the pathological findings of digital clubbing ( 62 ). Skin biopsy from the thickened forehead showed dermal edema, marked infiltration of mast cells in the dermis, mucin deposition, elastic fibrosis, sebaceous hypertrophy and hyperplasia ( 16 , 63 , 64 ). For joints, minimal synovial cell proliferation but prominent arterial-wall thickening, with intravascular deposition of electron-dense material, were found.…”

Section: Genetics and Pathogenesismentioning

confidence: 99%

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Lu,

Xu,

Zhang

et al. 2023

Front. Endocrinol.

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Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 levels. The identification of the causative genes has provided a better understanding of the underlying mechanisms. PHO can be divided into three subtypes according to its pathogenic gene and inheritance patterns. The onset age, sex ratio and clinical features differ among subtypes. The synthesis and signaling pathways of PGE2 are outlined in this review. Cyclooxygenase-2 (COX-2) is the key enzyme that acts as the rate-limiting step for prostaglandin production, thus COX-2 inhibitors have been used to treat this disease. Although this treatment showed effective results, it has side effects that restrain its use. Here, we reviewed the genetics, clinical features, differential diagnosis and current treatment options of PHO according to our many years of clinical research on the disease. We also discussed probable treatment that may be an option in the future.

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Section: Genetics and Pathogenesismentioning

confidence: 99%

Primary hypertrophic osteoarthropathy: genetics, clinical features and management

Lu,

Xu,

Zhang

et al. 2023

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…Table 1 shows the results of quality assessment of the included studies. Two studies did not describe the study objective clearly [16,17]. All studies described the study population clearly.…”

Section: Flow Of the Review Processmentioning

confidence: 99%

“…All 26 studies were case reports which included a total of 54 patients. The studies were conducted in India [16,17,[19][20][21][22], Spain [12,23], Japan [10,21,24,25], Germany [26,27], Italy [14,28,29], Turkey [30][31][32], Brazil [11], Tunisia [33], Portugal [34], Switzerland [35], Poland [35], Czech Republic [35], Australia [35], and UK [13]. One study did not report the study location [7].…”

Section: Flow Of the Review Processmentioning

confidence: 99%