Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.

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.

Primary Orbital Extranodal Natural Killer/T-Cell Lymphoma, Nasal Type, without Nasal Involvement.

Extranodal natural killer/T-cell lymphoma (ENKL) usually occurs in the nose or the nasopharynx, but extranasal and disseminated disease can occur. In this disease, orbital involvement is more commonly seen, but without nasal involvement is rare. A 61-year-old woman was referred with a one-month history of a remarkably enlarging salmon-colored mass arising in the right inner canthus, with redness and painlessness. The motility of the right eye was limited in the medial direction, with external deviation of the eyeball. A magnetic resonance imaging (MRI) scan of the orbits showed a mass of irregular shape located in the right inner canthus, without any sinus involvement. A histopathological examination concluded a diagnosis of primary orbital extranodal natural killer/T-cell lymphoma, nasal type. Her orbital mass significantly reduced to near disappeared after chemotherapy. From the first visit to the present, the survival duration of this patient was more than 1 year. This patient was still alive with a high quality of life and with no systemic metastasis. Extranodal natural killer/T-cell lymphoma, nasal type may primarily arise in the orbit without nasal involvement. Early discovery, early biopsy and diagnosis and early appropriate treatment can successfully control tumors and improve prognosis.

Epibulbar osseous choristoma: Two case reports.

BACKGROUND: Choristoma is a rare, benign, congenital proliferative tumor, with osseous choristoma being the rarest. Although the tumor is benign, effective identification is needed for its diagnosis and treatment. Here, we report the diagnosis and successful surgical treatment of two patients with osseous choristoma. CASE SUMMARY: Two patients, a young female and young male patient, were found to have a mass on the ocular surface. The tumor presented on the superior temporal bulbar conjunctiva in the first patient and on the upper eyelid in the second patient. Ultrasound biomicroscopy detected a strong echo with clear boundaries covering the lower echo, and computed tomography examination revealed calcification. Both patients underwent surgery, and histopathological evaluation of the mass showed osseous choristoma. They were treated by excision and subsequently cured. CONCLUSION: Osseous choristomas are usually asymptomatic. Our patients were cured immediately after surgery, suggesting that surgical treatment is an effective strategy.

Preliminary studies of constructing a tissue-engineered lamellar corneal graft by culturing mesenchymal stem cells onto decellularized corneal matrix.

AIM: To construct a competent corneal lamellar substitute in order to alleviate the shortage of human corneal donor. METHODS: Rabbit mesenchymal stem cells (MSCs) were isolated from bone marrow and identified by flow cytometric, osteogenic and adipogenic induction. Xenogenic decellularized corneal matrix (XDCM) was generated from dog corneas. MSCs were seeded and cultured on XDCM to construct the tissue-engineered cornea. Post-transplantation biocompatibility of engineered corneal graft were tested by animal experiment. Rabbits were divided into two groups then underwent lamellar keratoplasty (LK) with different corneal grafts: 1) XDCM group (n=5): XDCM; 2) XDCM-MSCs groups (n=4): tissue-engineered cornea made up with XDCM and MSCs. The ocular surface recovery procedure was observed while corneal transparency, neovascularization and epithelium defection were measured and compared. In vivo on focal exam was performed 3mo postoperatively. RESULTS: Rabbit MSCs were isolated and identified. Flow cytometry demonstrated isolated cells were CD90 positive and CD34, CD45 negative. Osteogenic and adipogenic induction verified their multipotent abilities. MSC-XDCM grafts were constructed and observed. In vivo transplantation showed the neovascularization in XDCM-MSC group was much less than that in XDCM group postoperatively. Post-transplant 3-month confocal test showed less nerve regeneration and bigger cell-absent area in XDCM-MSC group. CONCLUSION: This study present a novel corneal tissue-engineered graft that could reduce post-operatively neovascularization and remain transparency, meanwhile shows that co-transplantation of MSCs may help increase corneal transplantation successful rate and enlarge the source range of corneal substitute to overcome cornea donor shortage.