Pyknodysostosis (PKND), also referred to as Toulouse-Lautrec Syndrome, is a rare autosomal recessive disorder marked by short limbs, short stature, and generalized bone sclerosis. The hallmark signs of this disorder include sclerosis of the terminal phalanges, persistent fontanelles, delayed suture closure, wormian bones, absence of frontal sinuses, obtuse mandibular gonial angle, and relative mandibular prognathism. This case report elucidates a 13-year-old boy presenting with systemic features such as short stature, frontal and parietal bossing, depressed nasal bridge, a beaked nose, hypoplastic midface, wrinkled skin on the fingertips, and nail abnormalities. The oro-dental manifestations include deep palate, prominent palatal rugae, constricted maxillary arch, proclined maxillary anterior teeth and Class III skeletal profile. Radiographic findings showed hypoplastic paranasal sinuses, atrophic mandible, taurodontism, impacted permanent teeth along with several retained deciduous molars. This case highlights the need for vigilance in identifying the dental and systemic signs of PKND, emphasizing the importance of early diagnosis and tailored treatment strategies to improve patient outcomes. Key words:Pyknodysostosis, Toulouse-Lautrec syndrome, Dental management.

Trigger wrist, characterized by a clicking or snapping sensation around the wrist joint during finger or wrist motion, and bifid or trifid median nerve, which occurs in carpal tunnel syndrome along with anatomical variation of median nerve, are rare conditions. We report the case of a patient with a thickened tendon caused by severe tenosynovitis and flexor tendon subluxation to the hamate hook due to bowing of the flexor retinaculum, thereby resulting in trigger wrist as well as an anatomical median nerve variation (bifid median nerve in the right wrist and trifid median nerve in the left wrist). A 59-year-old housewife visited our hospital with bilateral fingertip numbness, tingling sensation, and aggravated severe night cramping that began 2 months ago. She also complained about trigger wrist during small finger flexion. Based on magnetic resonance imaging, ultrasonography, and nerve conduction study, trifid median nerve and bilateral severe median nerve neuropathy of the wrist were diagnosed; therefore, transverse carpal tunnel release and exploration under wide-awake anesthesia were planned. Intraoperative findings showed trifid and bifid median nerves in left and right wrists, respectively. Additionally, bowing of flexor retinaculum and severe flexor tendon tenosynovitis were observed. Tenosynovitis with thickened flexor sheath resulted in subluxation of the small finger flexor tendon above the hamate hook. After transverse carpal ligament release with antebrachial fascia release and tenosynovectomy, subluxation of the flexor tendon was resolved. At 6 months postoperatively, the tingling and dullness in fingertips also resolved, and no trigger wrist or any other complications were noted.

Thenar hammer syndrome (THS) is characterized by vascular injury and subsequent digital ischemia from acute high-energy trauma or repetitive low-energy trauma to the thenar eminence of the palm. Here, we report the case of a 41-year-old male construction worker who presented with unilateral, cold, painful, and blue-colored fingertips in his left hand. Angiography of his left upper extremity showed abrupt occlusion of the radial artery at the level of the radial styloid process with a poorly developed but patent deep palmar arch, consistent with THS. The ulnar artery and superficial palmar arch were both patent. He had moderate symptomatic relief with administration of low-dose endovascular fibrinolytics, anticoagulation therapy, and a calcium channel blocker during his stay in the hospital and was discharged home on dual antiplatelet therapy.

Hypothenar hammer syndrome is a cause of symptomatic ischemia of the hand secondary to the formation of aneurysm or thrombosis of the ulnar artery in the setting of a complete or incomplete palmar arch. Acute occlusive thrombus or embolus of the hand represents a complex problem that often may require immediate surgical intervention. We report a case of acute unilateral arterial hand ischemia requiring catheter-directed thrombolysis with Alteplase therapy in a patient with acute occlusive arterial thrombosis of the left ulnar artery. A catheter-directed thrombolytic regimen consisted of Alteplase 1 mg/h for 24 h, and heparin was infused through the sheath side arm at a rate of 500 units per hour for resolution of the thrombus and improvement in symptoms. A former truck driver presented with worsening pain and subsequent development of significant cyanosis with early gangrenous changes of the left second and third fingertips. He had significant callous of the hypothenar eminence and reported that his left hand was not only his "driving" hand but also a cane has been used in his left hand to ambulate. Initial angiogram revealed only ulnar artery occlusion at the wrist with reconstitution just distal to the hypothenar eminence. After 24 h of the initiation of thrombolysis, repeat angiography revealed resolution with a widely patent ulnar artery. His symptoms and the color of his digits immediately improved, and within a few months, his hand had normalized. The patient had no clinical sequelae of thrombolytic therapy. Catheter-directed thrombolytic therapy in situations of acute occlusive thrombus of the hand may provide a therapeutic option for patients with suspected hypothenar hammer syndrome. However, thrombolytic therapy carries risk of significant hemorrhagic complications. Before initiating therapy, careful judgment about the possibility for bleeding risk is required. This provides for a minimally invasive alternative to open surgical revascularization especially in the absence of underlying correctable anatomic defect such as aneurysm.

An anatomical analysis of the transverse carpal ligament (TCL) and the surrounding structures might help in identifying effective measures to minimize complications. Here, we present a surgical technique based on an anatomical study that was successfully applied in clinical settings. Using 13 hands from 8 formalin-fixed cadavers, we measured the TCL length and thickness, correlation between the distal wrist crease and the proximal end of the TCL, and distance between the distal end of the TCL and the palmar arch; the TCL cross sections and the thickest parts were also examined. Clinically, fasciotomy was performed on the relevant parts of 15 hands from 13 patients by making a minimally invasive incision on the distal wrist crease. Postoperatively, a two-point discrimination check was conducted in which the sensations of the first, second, and third fingertips and the palmar cutaneous branch injuries were monitored (average duration, 7 months). In the 13 cadaveric hands, the distal wrist crease and the proximal end of the TCL were placed in the same location. The average length of the TCL and the distance from the distal TCL to the superficial palmar arch were 35.30±2.59 mm and 9.50±2.13 mm, respectively. The thickest part of the TCL was a region 25 mm distal to the distal wrist crease (average thickness, 4.00±0.57 mm). The 13 surgeries performed in the clinical settings yielded satisfactory results. This peri-TCL anatomical study confirmed the safety of fasciotomy with a minimally invasive incision of the distal wrist crease. The clinical application of the technique indicated that the minimally invasive incision of the distal wrist crease was efficacious in the treatment of the carpal tunnel syndrome.