Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II.

ABSTRACT: Oral-facial-digital syndromes (OFDSs) represent a heterogenous group of embryonic development disorders characterized by malformations of the face, oral cavity, and extremities. Oral-facial-digital syndrome type II is an autosomal recessive disease characterized by median cleft lip, gingival frenula, cleft lobulated tongue, and polydactyly. There are few reports on surgical techniques for correction of incomplete median cleft lip. Here we describe a novel surgical method that we used to correct an incomplete median cleft lip in a 5-year-old girl with oral-facial-digital syndrome type II. She had previously undergone surgery for congenital heart disease, oral anomalies, and polydactyly. Cheiloplasty was performed at 5 years and 8 months using a surgical approach that focused on repair of the median tubercle using lateral labial elements. A reasonably good Cupid's bow and median tubercle were achieved. Our technique for surgical correction of moderate incomplete median cleft lip provides adequate philtral height, vermillion fullness, and a good-shaped Cupid's bow.

Auricular Arteriovenous Malformation With Macrotia Treated With Transcatheter Arterial Embolization, Polidocanol Foam Sclerotherapy and Subsequent Otoplasty Following Resection.

ABSTRACT: Auricular arteriovenous malformation (AVM) occasionally accompanies macrotia. Here, the authors report a case of AVM with macrotia that was treated with transcatheter arterial embolization, percutaneous sclerotherapy, and subsequent otoplasty following partial resection. A 46-year-old man presented with Schobinger stage III AVM. After transcatheter arterial embolization of the feeding arteries using n-butyl-2-cyanoacrylate, 9 sessions of sclerotherapy were performed using 3% polidocanol foam. Partial resection of the AVM nidus and subsequent otoplasty for ear reduction were performed at the age of 50 years. Two years later, the remnant nidus was resected and the protruding ear was surgically corrected. No recurrence was observed, and the enlarged ear was reduced at follow-up 6 months after the final operation.

Ulcerated Infantile Hemangioma of the Hard Palate: Diagnostic Treatment With Oral Propranolol.

Infantile hemangiomas arising in the palate are rare. The authors describe a case of ulcerated infantile hemangioma of the hard palate with feeding difficulty. To our knowledge, this is the first reported case of immunohistochemically diagnosed palatal infantile hemangioma successfully treated using oral propranolol.

NEDD4 Is Involved in Inflammation Development during Keloid Formation.

Keloids mark a chronic inflammatory disease characterized by a fibroproliferative disorder of the skin. A genome-wide association study showed that single-nucleotide polymorphism rs8032158 in the neural precursor cell-expressed NEDD4 gene, which has six protein-coding transcript variants (TVs), is genetically linked to keloids. Here, we show that the high frequency of risk allele C in rs8032158 in keloid patients is associated with a selectively higher expression of TV3 of NEDD4 to activate the NF-κB pathway. Comparisons of keloid scars with normal skin samples that do not have the single-nucleotide polymorphism allele and were derived from different anatomical sites showed stronger expressions of NEDD4 TV3 and activated forms of NF-κB and STAT3 in keloid scars. Forced expression or selective knockdown of NEDD4 TV3 increased or decreased NF-κB activation in vitro. Furthermore, NEDD4 knockdown suppressed NF-κB-dependent inflammation development in vivo. Mechanistic analysis showed that NEDD4 TV3 is involved in NF-κB activation through its association with the adaptor protein RIP. These results suggest that NEDD4 TV3 is a potential diagnostic marker and therapeutic target for chronic skin diseases, including keloid.

Transarterial Embolization and Transmucosal Sclerotherapy That Led to Successful Deliveries in a Patient With Symptomatic Arteriovenous Malformation of the Tongue.

Patients with arteriovenous malformations (AVMs) are at risk of significant hemorrhage and AVMs are especially difficult to manage in those desiring future pregnancy. Few patients with successful deliveries have been previously reported.The authors report an unusual case of AVM of the tongue in a pregnant woman who presented with massive pulsatile bleeding from a ruptured artery in the tongue in late gestation, this was thought to be caused by the changes in hormonal balance and the increase in cardiac output. The bleeding was controlled with transarterial embolization and transmucosal absolute ethanol sclerotherapy. Furthermore, her second and third deliveries were successfully managed.The authors managed symptomatic tongue AVM by combining transarterial embolization and transmucosal sclerotherapy, which was followed by successful deliveries. This patient supports the utility of transmucosal absolute ethanol sclerotherapy for tongue AVM and multidisciplinary medical care for a successful delivery.

A case of combined soft tissue and intraosseous venous malformation of the thumb treated with sclerotherapy using a bone marrow aspiration needle.

Vascular malformations of bone are complex lesions that can cause deformity and pain. A combined soft tissue and intraosseous venous malformation of the left thumb in a girl was treated with two sessions of ethanol sclerotherapy using a bone marrow aspiration needle under fluoroscopic guidance.