EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.

Use of a novel topical hemostatic sealant in lacrimal surgery: a prospective, comparative study.

PURPOSE: FloSeal Matrix is a new, two-component (collagen granules and thrombin), topical hemostatic sealant. We prospectively evaluated the role of FloSeal Matrix in achieving hemostasis in dacryocystorhinostomy (DCR) surgery and its intraoperative characteristics (ease of use). We hypothesize that FloSeal will efficiently control bleeding in patients and eliminate the need for postoperative intranasal dressing. METHODS: FloSeal was used during surgery in 10 consecutive patients undergoing DCR. A further 10 consecutive patients (comparative group) had DCR without FloSeal; nasal packing was performed to control postoperative bleeding. The severity of postoperative bleeding and patient comfort were compared between the two groups at three time points (immediately after surgery, 12 hours after surgery, and 24 hours after surgery). RESULTS: All patients in the comparative group had some degree of postoperative bleeding (minimal to severe), whereas the nine patients in the FloSeal group had none or minimal bleeding. The difference was statistically significant at all three measured time points (p = 0.047, 0.006, 0.05). The FloSeal group also had less postoperative discomfort (p = 0.0001). CONCLUSIONS: FloSeal Matrix is an effective hemostasis adjunct in patients undergoing lacrimal surgery. It has the added benefits of high patient satisfaction and ease of use.

Endonasal laser dacryocystorhinostomy: its role in anticoagulated patients.

OBJECTIVE: To report the results of endoscopic laser-assisted dacryocystorhinostomy in anticoagulated patients. STUDY DESIGN: A retrospective study of 16 consecutive anticoagulated patients with distal nasolacrimal duct obstruction treated by endoscopic laser-assisted dacryocystorhinostomy. METHODS: A case note review was made of all patients treated with endoscopic laser-assisted dacryocystorhinostomy who were taking coumadin in two centers between 1993 and 2000. The parameters of age, gender, indications for surgery, surgical findings, complications, and outcome were analyzed. The mean follow-up time was 14 months (range, 9-26 mo). RESULTS: Fifteen of the 16 patients who were treated had an eventual successful outcome, but 6 patients required revision surgery. The patient whose symptoms were not improved was shown to have functional epiphora. No patient had a problem with primary or secondary epistaxis, and no patient required admission. A major benefit was the lack of disruption of anticoagulant therapy. CONCLUSIONS: Endoscopic laser-assisted dacryocystorhinostomy is a safe, efficient technique for the relief of distal nasolacrimal duct obstruction in anticoagulated patients. Not only does it avoid any disruption to their anticoagulant therapy, but it also can be performed as an outpatient procedure.

A rationale for the selection of nasal decongestants in lacrimal drainage surgery.

Adequate hemostasis during lacrimal drainage surgery affects the success of the operation. Nasal decongestants, which are sympathomimetric agents including sympathomimetic amines and imidazoline derivatives, help to decrease bleeding. Certain of the imidazoline derivatives--oxymetazoline and xylometazoline--are potent and long-acting agents that have many of the same adrenergic effects as cocaine. Their use as an alternative to cocaine provide adequate hemostasis with less adverse reactions than cocaine. The authors recommend premedication of the nasal mucosa with oxymetazoline or xylometazoline before lacrimal drainage surgery for obtaining maximal nasal mucosal decongestion.