Follicular Conjunctivitis due to Chlamydia felis—Case Report, Review of the Literature and Improved Molecular Diagnostics

A 29-year-old woman presented with unilateral, chronic follicular conjunctivitis since 6 weeks. While the conjunctival swab taken from the patient’s eye was negative in a Chlamydia (C.) trachomatis-specific PCR, C. felis was identified as etiological agent using a pan-Chlamydia TaqMan-PCR followed by sequence analysis. A pet kitten of the patient was found to be the source of infection, as its conjunctival and pharyngeal swabs were also positive for C. felis. The patient was successfully treated with systemic doxycycline. This report, which presents one of the few documented cases of human C. felis infection, illustrates that standard PCR tests are designed to detect the most frequently seen species of a bacterial genus but might fail to be reactive with less common species. We developed a modified pan-Chlamydia/C. felis duplex TaqMan-PCR assay that detects C. felis without the need of subsequent sequencing. The role of chlamydiae-specific serum antibody titers for the diagnosis of follicular conjunctivitis is discussed

Pressure-induced interlamellar stromal keratitis after laser in situ keratomileusis

To describe a patient with interlamellar stromal keratitis induced by increased intraocular pressure (IOP) [Pressure-induced interlamellar stromal keratitis (PISK)] after laser in situ keratomileusis (LASIK) surgery. Case report and review of the literature. We report a case of interlamellar stromal keratitis induced by increased IOP after LASIK surgery. A 42-year-old man presented with persistent interface haze after uneventful LASIK. The patient described onset of decreased visual acuity after the first 2 postoperative weeks, failed to improve with high-dose topical steroid drops, and had significantly elevated IOP values up to 48 mm Hg. IOP was resistant to maximal topical antiglaucomatous therapy. The patient showed both improvement in visual acuity and decrease in interface haze after discontinuation of topical steroids and lowering of IOP by both topical and systemic treatment. Slit-lamp optical coherence tomography ruled out a fluid accumulation in the interface. PISK appears clinically almost identical to diffuse lamellar keratitis after LASIK. It is important to measure the IOP and be suspicious when a diffuse interface haze occurs after the first postoperative week, is resistant to or even exacerbates in response to an increase in topical steroid treatment, and is not associated with other causative events. Slit-lamp optical coherence tomography is a valuable tool that allows differentiation between space-occupying interface fluid collection and non-space-occupying interface fluid collection to avoid falsely low or normal IOP measurements in PISK

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments. Methods 25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys. Results All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1–12 deciduous teeth erupted and 0–8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development. Conclusions This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention