Pachydermoperiostosis, also known as Touraine-Solente-Golé syndrome, is an uncommon hereditary condition. This condition includes skin thickening (pachydermia), abnormalities of the bones (periostosis), and digital clubbing (acropachy). We present a case of complete pachydermoperiostosis who presented with end-stage kidney disease. Chronic tubulointerstitial disease secondary to long-term analgesics and complementary and alternative medications was considered the likely etiology for renal dysfunction. The patient underwent serial hemodialysis followed by arteriovenous fistula surgery. In view of significant synovial inflammation, he was also given a selective COX-2 inhibitor. Pachydermoperiostosis is a rare condition, and although there is no therapy for the condition itself, medicinal or surgical interventions can effectively control its secondary effects.

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BACKGROUND: The role of bisphosphonates (BP) in hypertrophic osteoarthropathy (HPOA) is unclear. We presented a case of primary HPOA and performed a systematic review of literature on the effect of BP on treatment response in primary and secondary HPOA.
METHODS: The study was prospectively registered in PROSPERO (CRD42022343786). We performed a PubMed literature search that restricted to the English language. We included patients diagnosed with primary or secondary HPOA who received BP. The primary endpoint assessed was the effectiveness of BP on response to pain or arthritis. Secondary outcomes included timing, degree, and duration of response, comparison to other HPOA therapies, impact of BP on radiology, bone scan, bone turnover markers, and adverse effects of BP.
RESULTS: Literature search retrieved only case reports. Forty-five patients (21 primary, 24 secondary HPOA) had received BP. Majority(88.3%) experienced improvement in pain or arthritis. Response was gradual for primary HPOA and within a median of 3 to 7 days for secondary HPOA after treatment with BP. Most patients had reduced bone scan uptake after BP. When other HPOA therapies were tried, half responded to BP after not having previously responded to other therapies, while a third received the treatments concurrently, making it difficult to attribute treatment response to a drug. Reporting of other secondary outcomes was very heterogenous and qualitative to draw conclusions. No major adverse effects have been reported for BP in HPOA.
CONCLUSIONS: Bisphosphonates provide an effective and safe treatment option for primary and secondary HPOA. However, there is a lack of randomized controlled trials.

UNASSIGNED: Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare autosomal dominant disease with primary clinical features of pachydermia (thickening of skin) and periostosis (new bone formation). Keloid scar formation is also rather obscure, and some scientists have claimed that keloid scars contain an excessive amount of fibroblasts compared with normal skin as well as a dense mass of irregularly deposited connective tissues.
UNASSIGNED: A 25-year-old man exhibited extensive skin folding on his face, a gyrus-like scalp, depressed nasolabial folds, and keloids. Symptoms began at 18 years of age, progressing insidiously. Additionally, he experienced clubbing of fingers and toes, joint pain, muscle soreness, and hyperhidrosis. Radiographic examinations revealed thickened bone and cystic regions. Diagnosed with complete primary PDP and facial keloid scars, he underwent skin dermabrasion, biopsies, and a comprehensive treatment involving, botulinum toxin injections, 5-fluorouracil, and a carbon dioxide lattice laser.
UNASSIGNED: PDP presents challenges due to its unclear etiology but stabilizes over time in most cases. Comprehensive treatment strategies, including dermabrasion and a combination of intralesional therapies, are effective in managing keloids in PDP patients. This case contributes to the understanding of managing rare diseases and underscores the importance of personalized approaches to improve therapeutic outcomes in patients with complete primary PDP and concurrent keloids.

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Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.

UNASSIGNED: Pachydermoperiostosis (PDP) is a syndrome characterised by the triad of pachydermia, digital clubbing and periostosis of long bones and its scarce incidence and similarity in clinical features with acromegaly makes the diagnosis challenging. The elevated PGE2 levels have been hypothesised as one of its mechanisms and therapies have been targeted to inhibit this prostaglandin.
UNASSIGNED: A 25-year-old man with no comorbidities presented to OPD with a 10-year history of bilateral pain and swelling of the hands and feets associated with hyperhidrosis, grade IV clubbing and marked skin thickening on his forehead. X-rays revealed hyperostosis of the metacarpals, proximal and middle phalanges and periosteal bone formation with cortical thickening of the ankle joint. Tests done to rule out differentials such as thyroid acropachy, acromegaly, psoriatic arthritis were normal and a clinical diagnosis of PDP, a rare genetic disease characterised by pachyderma, digital clubbing and periostosis was made.
UNASSIGNED: The patient was managed conservatively with etoricoxib for 6 months on a follow-up basis. The symptoms were improving and a repeat X-ray showed partial improvement of soft tissue thickening and periostosis.
UNASSIGNED: PDP is a rare diagnosis with no clear consensus on a management approach. Its management with selective COX-2 inhibitors such as etoricoxib should be considered but its long-term effects should be studied further.

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

UNASSIGNED: Pachydermoperiostosis is a rare genetic disorder that closely resembles acromegaly. Diagnosis is usually based on distinct clinical and radiological features. Oral etoricoxib therapy showed a good initial response in our patient.
UNASSIGNED: Pachydermoperiostosis (PDP) is a rare genetic disorder with unclear etiopathogenesis. We report a case of a 38-year-old male who presented with classic features of PDP. Our patient showed a good initial response to etoricoxib therapy but the safety and efficacy over long-term use are yet to be determined in further studies.

UNASSIGNED: We describe a case of a young man with features of pachydermoperiostosis and spondyloarthropathy. By describing this rarity, we aim to help build a database for future studies and construct a management plan that rheumatologists and clinicians can use.
UNASSIGNED: This is the first case report in Iraq describing the combination of pachydermoperiostosis and ankylosing spondylitis. We report this interesting association in a 23-year-old male who presented with inflammatory back pain, coarse facial features, clubbing, signs of enthesitis, limitation of spine movement, and clinical and radiographic signs of sacroiliitis.