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.

A 39-year-old male patient underwent uncomplicated deep anterior lamellar keratoplasty due to keratoconus. On day 5 after surgery, small whitish infiltrates developed in the corneal interface. The diagnosis of fungal keratitis was made when the culture medium of the graft grewCandidaafter the surgical intervention. Despite intensive antimycotic treatment and irrigation of the interface, the infiltrates persisted and eventually enlarged. Therefore, revision surgery with penetrating keratoplasty was performed. Microbiological analysis showedCandida orthopsilosisin the culture of the excised graft button. Histopathological staining of the excised graft showed periodic acid–Schiff-positive and Grocott methenamine silver-positive clusters of yeast between Descemet's membrane and the deep corneal stroma with focal perforations through Descemet's membrane. The treatment of mycotic keratitis caused byC orthopsilosisis challenging. Antimycotic treatment was unsuccessful in this case. Progression of the keratitis and perforation of Descemet's membrane suggest that early surgical intervention by penetrating keratoplasty is required.

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.

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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.