Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female.

Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI) is an extremely rare autoinflammatory disease. We present the case of a female Korean patient with early-onset interstitial lung disease who was initially suspected to have systemic lupus erythematosus (SLE) but was ultimately diagnosed with SAVI. The patient exhibited signs of interstitial lung disease and cutaneous manifestations before the age of 1 year and continued to have recurrent fever accompanied by pulmonary infiltrates. Based on positive findings for antibodies associated with SLE, such as antinuclear antibodies and anti-double-stranded DNA, the pulmonary involvement was considered a manifestation of SLE. Another significant symptom was recurrent skin ulceration, which led to partial spontaneous amputation of most of the toes due to inflammation. Given the early onset of interstitial lung disease, severe skin ulcers, and symptoms resembling SLE, autoinflammatory syndrome, especially SAVI was suspected. Following confirmation by genetic testing at age 29 years, the patient was started on tofacitinib, a Janus kinase inhibitor. Despite the prolonged use of multiple immunosuppressive therapies, the patient's lung condition continued to worsen, ultimately requiring lung transplantation. This observational report highlights the importance of considering SAVI as a potential diagnosis when manifestations of interstitial lung disease are observed during infancy. Early proactive treatment is crucial for lung involvement, as this can have long-term effects on patient's prognosis.

Serum Eosinophilic Cationic Protein as a Useful Noninvasive Marker of Eosinophilic Gastrointestinal Disease in Children.

Purpose: Recently, the prevalence of eosinophilic gastrointestinal disease (EGID) has shown an increasing trend worldwide. As the diagnosis of EGID requires invasive endoscopy with biopsy, noninvasive markers for detecting EGID in suspected patients, particularly children, are urgently needed. Therefore, this study aimed to evaluate the diagnostic accuracy of serum eosinophil cationic protein (ECP) beyond peripheral eosinophil counts in pediatric patients with EGID. Methods: Overall, 156 children diagnosed with EGID were enrolled and 150 children with functional abdominal pain disorder (FAPD) were recruited as controls. All participants underwent endoscopic biopsy in each segment of the gastrointestinal (GI) tract and serum ECP measurement, as well as peripheral eosinophil percent and absolute eosinophil count. Results: Comparing EGID (n=156) with FAPD (n=150) patients, serum ECP levels were significantly higher in pediatric patients with EGID than in those with FAPD (25.8±28.6 µg/L vs. 19.5±21.0 µg/L, p=0.007), while there was no significant difference in peripheral eosinophil percent and absolute eosinophil counts between the two groups. Serum ECP levels were correlated with peripheral eosinophil percent (r=0.593, p<0.001) and the absolute eosinophil count (r=0.660, p<0.001). The optimal cutoff value of serum ECP for pediatric EGID was 10.5 µg/mL, with a sensitivity of 69.9% and a specificity of 43.4% with an area under the receiver operating characteristic curve of 0.562. Conclusion: The combination of serum ECP levels and peripheral eosinophil counts, when employed with appropriated thresholds, could serve as a valuable noninvasive biomarker to distinguish between EGID and FAPD in pediatric patients manifesting GI symptoms.

Childhood proliferative fasciitis of the orbit mimicking sarcoma: a case report.

Proliferative fasciitis (PF) is a benign fibroblastic reaction with histological and clinical characteristics that overlap with those of malignant soft tissue tumors; thus, it is referred to as a pseudosarcomatous reaction. It continues to be an important cause of diagnostic error and overtreatment. The childhood PF subtype has some distinct histological and immunohistochemical characteristics that make differential diagnosis with malignant tumors even harder, especially with sarcoma. These proliferations generally occur in the lower limbs, and the periorbital region is a rare location of appearance. Here, we describe a case of childhood subtype PF in a 16-year-old girl located in the periorbital area. To the best of our knowledge, this is the first reported case of childhood subtype PF in the periorbital area, and the third case if PF subtypes are not taken into account.

Nerve Sheath Myxoma Involving the Medial Rectus Muscle: A Case Report.

A 63-year-old man reported a 2-year history of painless OS proptosis. The first MRI, performed in the institution of origin, resulted in a diagnosis of hemangioma versus orbital pseudotumor. Examination revealed proptosis and mild chemosis. Ancillary tests were normal, and oral prednisone was initiated without remarkable changes. Later, an incisional biopsy identified the lesion as an intramuscular myxoma of the left rectus, and a new MRI was ordered. It described a fusiform thickening of the medial rectus with and exophytic growth below the inferior rectus and upward toward the superior oblique. Due to the localization of the lesion, a combined transcaruncular and swinging eyelid approach with a lateral orbitotomy was performed. Histopathological examination revealed a proliferation of stromal origin composed of myxoid matrix with fusocellular and stellate-shaped cells. Cells were S-100, CD34, and CD56 positive and negative for epithelial membrane antigen, CD68, CD10, actin, and desmin. Results were consistent with a left medial rectus nerve sheath myxoma.

Effect of topical Phenylephrine on the upper eyelid crease position.

PURPOSE: To investigate the effect of Phenylephrine test on the upper eyelid crease position. MATERIAL AND METHODS: This study follows a prospective and analytical design and included patients with unilateral acquired involutional ptosis recruited between January 2015 and January 2018. In the Phenylephrine test, 1 drop of Phenylephrine 10% was instilled on the inferior fornix of the ptotic eye and the eyelid crease position was evaluated 10 min after. RESULTS: A total of 60 patients were included in the final sample. The mean Margin-to-reflex distance 1 (MRD1) of the ptotic eye was 2.1 ± 1.0 and 3.8 ± 0.6 mm before and 10 min after the instillation of Phenylephrine, respectively. The difference between the means was statistically significant (p < 0.001). Ninety-five per cent of the eyes had a positive Phenylephrine test result. Of this, 100% showed a decrease in the height of eyelid crease after the drop. There was a statistically significant decrease in the height of eyelid crease from 10.3 ± 2.5 to 7.8 ± 2.0 mm (p < 0.001). CONCLUSION: Phenylephrine test not only affects the eyelid position but also the eyelid crease height. We show a significative decrease in eyelid crease height to a symmetrical level with the contralateral lid in all patients that had a positive Phenylephrine test result. This effect is probably due to a posterior lamella shortening secondary to Müller's muscle contraction and suggests that the eyelid crease is not only determined by the projections of levator aponeurosis, but also by the entire force vector of the upper eyelid retractors.

Reconstructive subperiosteal midface lift: A three nonvisible incision approach.

This article describes our surgical technique for subperiosteal midface elevation in patients with paralytic lower eyelid malposition or cicatricial inferior eyelid retraction. Nineteen patients with paralytic lower eyelid malposition and 15 patients with cicatricial inferior eyelid retraction underwent a subperiosteal midface lift (n = 34). The procedure was performed under local anesthesia through three nonvisible incisions. A transconjunctival incision allows preseptal dissection to the orbital rim, followed by a subperiosteal dissection of the midface. An oral incision is useful to achieve complete subperiosteal dissection and to perform the distal periostomy, which allows complete release of the midface soft tissues. A temporal incision provides access to the temporal fascia for fixation of the elevated tissues and gives the surgeon the possibility of removing redundant skin from the scalp instead of the lower eyelid. Additional posterior lamellar grafting was performed in 24 patients. There was a statistically significant reduction in the distance from the pupil centre to the lower eyelid (margin reflex distance, MRD2) 1 month after surgery (preoperative MRD2 9.62 ± 4.52 mm, postoperative MRD2 5.28 ± 2.62 mm). The ectropion and lower eyelid retraction was resolved in all patients, except for one recurrence. Midfacial elevation is a safe and effective surgical technique in the treatment of static lower eyelid malposition after chronic facial nerve palsy or posttraumatic or iatrogenic lower eyelid retraction.

External dacryocystorhinostomy and transnasal canthopexy: new details of combined surgery.

PURPOSE: To describe the authors' modified combined surgical technique for external dacryocystorhinostomy and transnasal canthopexy. METHODS: A retrospective medical record review was performed including patients with late posttraumatic telecanthus and nasolacrimal duct obstruction treated by their combined dacryocystorhinostomy-transnasal canthopexy technique. In this technique, the bony window is extended superiorly and posteriorly further than in standard dacryocystorhinostomy, to allow pulling the canthus though the window, but at the same time not disturbing the suture of the dacryocystorhinostomy anastomosis. The lacrimal sac opening is performed under the canthal tendon, and only an anterior anastomosis is performed. Silicone intubation was performed only in cases with evidence of canalicular disease, marked sac inflammation or atrophic sac. The wires are fixed to the contralateral orbit, passed through the 2 middle holes of a 4-hole straight 1,7 mm microplate. The microplate is placed on the contralateral side to avoid in-fracture of the contralateral orbital bones from the pressure exerted by the transnasal wires. RESULTS: Combined external dacryocystorhinostomy-transnasal canthopexy surgery was performed on 13 eyelids of 11 consecutive patients for correction of medial telecanthus and nasolacrimal duct obstruction. Proper canthal position and lacrimal pathway patency were achieved in all cases after a mean follow up of 14.6 months. CONCLUSIONS: Combined dacryocystorhinostomy-transnasal canthopexy surgery with superior and posterior enlargement of the bony window avoided crossing of the wires and flaps and achieved a high success rate in the reconstruction of the lacrimal drainage pathway. This technique proved to be effective in the treatment of posttraumatic telecanthus with nasolacrimal duct obstruction.

Comparison of toric intraocular lenses and peripheral corneal relaxing incisions to treat astigmatism during cataract surgery.

PURPOSE: To evaluate and compare toric intraocular lens (IOL) implantation and spherical IOL implantation with peripheral corneal relaxing incisions to manage astigmatism during phacoemulsification. SETTING: Ophthalmology Service, Hospital Ramón y Cajal, Madrid, Spain. DESIGN: Prospective randomized comparative case series. METHODS: Eyes with cataract and corneal astigmatism (1.00 to 3.00 diopters [D]) had toric IOL implantation or peripheral corneal relaxing incisions. Outcome measures were visual outcomes, slitlamp assessment, digital toric IOL axis determination, spectacle need, and patient satisfaction. RESULTS: Three months postoperatively, the mean uncorrected distance visual acuity (UDVA) was 0.13 ± 0.10 (SD) in the toric IOL group and 0.19 ± 0.12 in the relaxing incisions group; the UDVA was better than 0.20 in 75% of eyes and 60% of eyes, respectively. Refractive cylinder decreased significantly in both groups, with a mean residual refractive astigmatism of 0.61 ± 0.41 D in the toric IOL group and 1.32 ± 0.60 D in the relaxing incisions group (P<.01). The mean toric IOL rotation was 3.65 ± 2.96 degrees, with no significant differences between slitlamp and digital photograph measurements. There was a trend toward better mesopic contrast sensitivity with glare in the toric IOL group. There were no differences in VF-14 or patient satisfaction results; 15% of patients in the toric IOL group and 45% in the relaxing-incision group required distance spectacles postoperatively. CONCLUSION: Although refractive astigmatism decreased in both groups, toric IOL implantation was more effective and predictable, resulting in greater spectacle independence.