Complete primary pachydermoperiostosis: A case report from Jordan and review of literature

Abstract

Key Clinical Message Complete Primary Pachydermoperiostosis is a rare syndrome that presents with skin and skeletal manifestations. Though diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed due to variable presentations. Therefore, it is important to know about this syndrome to reach correct diagnosis.

A Case of Progressive Thickening and Furrowing of Facial Skin and Scalp with Scarring Alopecia

“…Common manifestations include pachyderma, digital clubbing, and periostosis. Other characteristics reported comprise hyperhidrosis, seborrhea, acne, flushing, cutis verticis gyrata, blepharoptosis, arthralgia, and joint effusion [3]. Our patient manifested all 3 major characteristics without associated underlying disease and was diagnosed with PDP.…”

“…PDP, also known as primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome, was first described by Friedreich in 1868 [1], considering a rare genetic disorder characterized by thickening of the skin (pachyderma), digital clubbing (acropachy), and periosteal bone formation (periostosis) [2]. The condition presents a gradual onset, starting at puberty, and develops more commonly in males with a prevalence of approximately 0.16% of the general population [3]. PDP can be categorized into (i) primary hypertrophic osteoarthropathy, which is idiopathic and associated with HPGD and SLCO2A1 mutation [4] and (ii) secondary hypertrophic osteoarthropathy, which is more common and associated with underlying cardiopulmonary diseases and malignancies [5].…”

Klinische, diagnostische und therapeutische Aspekte der Pachydermoperiostose (PDP): Ein Fallbericht

“…Die PDP ist eine sehr seltene hereditäre Erkrankung. Erkenntnisse zur Epidemiologie stützen sich auf regional begrenzte Studien [4], umfassende Daten existieren nach Recherche der verfügbaren Datenbanken nicht. Die Erkrankung beginnt im Kindes-bis jungen Erwachsenenalter und bevorzugt das männliche Geschlecht (m:w 7:1) [2].…”

Frontal lifting using a tissue expander in pachydermoperiostosis: A case report

“…Pachydermoperiostosis predominantly occurs in male individuals at a ratio of 9:1, with a familial inheritance pattern, and both autosomal dominant inheritance and autosomal recessive inheritance have been described 4,6 . Various treatments, such as rhytidoplasty, rhytidectomy, and botulinum toxin injections, have been described in the literature 7‐9 . Two cases involving frontal region treatment associated with the use of tissue expanders prior to frontal rhytidoplasty have also been reported 9,10 …”

“…4,6 Various treatments, such as rhytidoplasty, rhytidectomy, and botulinum toxin injections, have been described in the literature. [7][8][9] Two cases involving frontal region treatment associated with the use of tissue expanders prior to frontal rhytidoplasty have also been reported. 9,10 A search was performed of the PubMed and Embase databases using the following terminology: pachydermoperiostosis, "Touraine Solente and Golé Syndrome," treatment, surgical treatment, frontal lifting, subperiosteal lifting, tissue expander, and combinations of these.…”