Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the TP63 gene. More commonly, mutations in the TP63 gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia. This case report describes a patient with chronic tearing, congenital atresia, and obstruction of the lacrimal ducts, which are the main clinical manifestations of ADULT syndrome. This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length). The gene mutation in this patient was also at a site different from those usually reported in the literature. In this patient, c.518G > T resulted in p. G173V (accession number: NM_003722; exon4). We performed successful dacryocystorhinostomy and artificial lacrimal duct implantation. As shown above, we discussed the clinical characteristics and genetics of the disease in detail. In sharing this case, we aim to contribute to the current understanding of the genes and clinical manifestations of ADULT syndrome and to assist clinicians in the clinical diagnosis of TP63 mutation-related diseases.

UNASSIGNED: To analyze the microbiological spectrum and antibiotic sensitivity patterns in children with congenital nasolacrimal duct obstruction (CNLDO).
UNASSIGNED: One hundred thirty-four eyes of 123 children in the age group of 0-16 years with a diagnosis of CNLDO who underwent lacrimal surgical procedures were included in this prospective comparative study. Sixty-two children in the age-matched group planned for intraocular surgery with patent nasolacrimal duct were deemed controls. The conjunctival swab after performing Regurgitation on Pressure over the Lacrimal Sac in the CNLDO group and the conjunctival swab in controls were sent for microbiological analysis. Antibiotic susceptibility testing was done for commonly employed antibiotics by the Kirby Bauer disk diffusion method.
UNASSIGNED: Of 134 samples collected in the CNLDO group, 111 (82.8%) samples were culture positive. There were 165 bacteria isolated, among which 139 (84.24% of isolates) were Gram-positive bacteria, and 26 (15.75% of isolates) were Gram-negative. Fungal isolates were obtained in 2.23% of cases. The most common Gram-positive isolate was Staphylococcus epidermidis (S. epidermidis) (n = 51, 30.9% of total isolates), and the most common Gram-negative isolate was Haemophilus influenza species (n = 9, 5.5% of total isolates). Gram-positive isolates were sensitive mostly to gentamicin and vancomycin (95.5% each), and Gram-negative isolates to amikacin (92.3%). Both Gram-positive and Gram-negative isolates were susceptible to gatifloxacin (80% each). Probing outcomes were similar among Gram-positive (success, 84.6%) and Gram-negative (success, 84.0%) organisms.
UNASSIGNED: There was a predominance of Gram-positive isolates in children with CNLDO with S. epidermidis being the most common. The microbiological profile did not have any effect on the outcomes of probing.

OBJECTIVE: The aim of reporting this case is to describe a rare combination of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction. A variety of lacrimal anomalies have been seen in blepharophimosis-ptosis-epicanthus inversus syndrome but the occurrence of nasolacrimal duct obstruction is rare.
METHODS: The blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant rare genetic defect with clinical manifestation of dysplasia of the eyelids, palpebral fissures, flat nasal bridge, and ptosis. A 20-month-old boy was referred with the complaints of watering and discharge from his right eyes since birth. On examination, the child had all the features of blepharophimosis-ptosis-epicanthus inversus syndrome with right congenital nasolacrimal duct obstruction in line with the published reports.
RESULTS: On endoscopic probing and irrigation, the probe could not be visualized into the inferior meatus. On dacryoendoscopy, the membranous part of the nasolacrimal duct was found to be completely obliterated with no light transmission into the nose indicating a malformed nasolacrimal duct. The child was managed by endoscopic dacryocystorhinostomy. We could find only one case report published so far on the combination of congenital nasolacrimal duct obstruction with blepharophimosis-ptosis-epicanthus inversus syndrome. This study adds one more case of blepharophimosis-ptosis-epicanthus inversus syndrome with congenital nasolacrimal duct obstruction and adjuvant use of dacryoendoscopy.

Congenital nasolacrimal duct obstruction (CNLDO) is the most common cause of epiphora in infancy. Spontaneous resolution occurs in the majority of the cases by 1 year of age. Nevertheless, obstruction has a negative impact on the outcome of conservative or surgical therapy, especially in cases of complex CNLDO. When the condition persists beyond several months, early intervention with dacryoendoscopy (DE) around the age of 1 year could yield good results. The objective of the study is to analyze the success rate and effectiveness of early DE for complex CNLDO in the first year of life.
A retrospective, non-comparative case series is presented. DE was performed under general anesthesia in patients between the age of 1 and 12 months with severe recurrent acute or chronic dacryocystitis. The medical histories, intraoperative and postoperative results after 3 months as well as via parents\' interviews were analyzed to investigate the success rate.
A total of 18 consecutive DE in 16 patients between the age of 1 and 12 months (mean 7.3 ± 3.4 months) were studied. Nine lacrimal ducts were diagnosed with persistent chronic dacryocystitis refractory to probing/syringing. The remaining 9 presented recurrent acute dacryocystitis. Diagnostic DE was performed in 18 cases. A therapeutic DE was conducted in 15 lacrimal ducts (83.3%) with simultaneous correction of the associated stenosiswith the tip of the endoscope. A visual controlled opening of the stenosis was impossible in 3 cases due to a too narrow presaccal anatomy (n = 1), an osseous duct stenosis (n = 1), and a bulging membrane of Hasner into the inferior nasal meatus (n = 1). Postoperative findings were classified into four categories: poor, fair, good and excellent. Good results were documented in 16.7% (n = 3) and excellent results in 77.7% (n = 14). The bony obstruction was treated with dacryocystorhinostomy. A minimum follow-up of 3 months was considered for final clinical analysis. Ten patients\' parents (12 surgeries) were interviewed by telephone (mean follow-up 24.8 months). No recurrence of stenosis and no further postoperative complications were observed.
DE is a diagnostic and therapeutic option for complex CNLDO in patients before the age of 1 year. The outcome of DE in the 3 months follow-up is highly indicative of positive final results in terms of patency of the lacrimal duct.