Paquidermoperiostose: forma completa da síndrome

Guerini, Marina Besen; Barbato, Mariana Tremel; Sá, Naiana Bittencourt de; Nunes, Daniel Holthausen; Zeni, P

doi:10.1590/s0365-05962011000300027

Cited by 11 publications

(4 citation statements)

References 3 publications

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“…A recent case-series from Tunisia also revealed marked periostosis of the long bones in all cases [32]. In addition to knee findings seen in our case, the case reported by Guerini et al [33] showed calcification at the insertion of the quadriceps tendon at the upper edge of the left patella. Our radiographic findings are similar to Reginato et al [6], Matucci-Cerinic et al [18], and Abdullah et al [22].…”

Section: Discussionsupporting

confidence: 82%

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

et al. 2019

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Background Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly. Clinical presentations of PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly. Case presentation A Mongolian male, aged 19 years, resident of a hilly district of Nepal, with history of consanguinity, presented to our outpatient department with chief complaints of pain and swelling in both hands and feet for 6 years. The pain was insidious in onset, throbbing in nature, and not relieved by over-the-counter medications. The patient also complained of profuse sweating, progressive enlargement of hands and feet, and gradual coarsening of facial features. On examination there were marked skin folds in the forehead, face, and eyelids. Clubbing and swelling of bilateral knee joints and ankle joints was also evident. He was subsequently investigated extensively for acromegaly. Insulin-like growth factor-1 level and oral glucose tolerance test were normal. Radiography of various bones showed periosteal hypertrophy with subperiosteal bone formation. Conclusions PDP should be considered as a differential diagnosis when a patient presents with hypertrophic osteoarthropathy and acromegalic features.

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Section: Discussionsupporting

confidence: 82%

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

et al. 2019

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“…There is no specific treatment for PDP ( 27 ). Clubbing is usually asymptomatic and does not require treatment ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

“…Clubbing is usually asymptomatic and does not require treatment ( 13 ). For patients with painful osteoarthropathy, the therapeutic options consist of salicylates, non-steroidal anti-inflammatory drugs, systemic corticosteroids and colchicine ( 27 ). Bisphosphonates or infliximab have been attempted in cases of PDP refractory to conventional therapy ( 28 29 ).…”

Section: Discussionmentioning

confidence: 99%

Identification of the Mutations in the Prostaglandin Transporter Gene,SLCO2A1and Clinical Characterization in Korean Patients with Pachydermoperiostosis

et al. 2016

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Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic genes responsible for PDP. Both genes are involved in prostaglandin E2 (PGE2) degradation. We aimed to identify responsible genes for PDP and the clinical features in Korean patients with PDP. Six affected individuals and their available healthy family members from three unrelated Korean families with PDP were studied. All of the patients displayed complete phenotypes of PDP with finger clubbing, pachydermia, and periostosis. Mutation analysis revealed a novel heterozygous mutation in the SLCO2A1 gene at nucleotide 302 causing a substitution of the amino acid isoleucine to serine at codon 101 (p.IIe101Ser) in affected individuals. We also identified known SLCO2A1 mutations, one homozygous for c.940+1G>A, and another compound heterozygous for c.940+1G>A and c.1807C>T (p.Arg603*) from two PDP families. Genetic analyses of the PDP patients showed no abnormality in the HPGD gene. Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PDP and could provide additional clues to the genotype-phenotype relations of PDP.

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“…described three forms of pachydermoperiostosis: (1) A complete form with pachydermia and periostosis, (2) an incomplete form with evidence of bone abnormalities but lacking pachydermia, and (3) a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. [34]…”

Section: Introductionmentioning

confidence: 99%

The action of prostaglandins on ciliary hypertrichosis: A case report of pachydermoperiostosis

Zarur¹,

d'Almeida²,

Novellino³

et al. 2014

Int J Trichol

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Pachydermoperiostosis or primary hypertropic osteoarthropathy is a rare hereditary disorder that was first described in 1868. It is characterized by digital clubbing, pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of periarticular tissue and subperiosteal new bone formation). We report a case of a patient with the complete form of the disease, and with a unique appearance of the hair shaft and eyelashes. The authors propose a possible mechanism to justify the abnormalities observed in the patient's hair shafts regarding the metabolism of prostaglandins and its relationship with the hair follicle physiological cycle.

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Paquidermoperiostose: forma completa da síndrome

Cited by 11 publications

References 3 publications

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

Identification of the Mutations in the Prostaglandin Transporter Gene,SLCO2A1and Clinical Characterization in Korean Patients with Pachydermoperiostosis

The action of prostaglandins on ciliary hypertrichosis: A case report of pachydermoperiostosis

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