BackgroundXeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP‐A to XP‐G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5 and 47 years) with carriers of the novel nonsense mutation that causes XP‐E type were included in the current study.MethodsDNA was isolated from peripheral blood samples of the proband, and cancer predisposition genes were sequenced with next‐generation sequencing. The demographic features and the laboratory, clinical, and histopathological findings of patients were evaluated.ResultsIn the proband, squamous cell carcinoma was first diagnosed in the right‐eye cornea at the age of 13 years and then in the left‐eye cornea at the age of 15 years. Later, the patient was diagnosed with basosquamous cell carcinoma on the dorsum of the nose at the age of 18 years. After genetic analysis, a novel nonsense c.1063C>T(p.Arg355Ter) pathogenic variation that causes XP‐E type was detected as homozygous in the DDB2 gene of the proband and her siblings, 11 and 5 years of age, and as heterozygous in her parents and a 22‐year‐old brother.ConclusionBecause of the occurrence of early termination codon, truncated nonfunctional proteins or proteins with deleterious loss or gain‐of‐function activities are synthesized in nonsense mutation. Thus, to avoid the development of pathological lesions, it is important that such patients with nonsense mutation stay away from agents that might cause DNA damage and develop an appropriate lifestyle according to this condition.

Purpose: To explore the relationship between keratoconus (KC) and psoriasis. Methods: One hundred ten eyes of 55 patients with psoriasis (study group, SG) and 110 eyes of age–sex-matched 55 healthy volunteers (control group, CG) were included in the study. All cases underwent a detailed dermatological and ophthalmological examination including corneal topography. Moreover, Psoriasis Area and Severity Index (PASI) scoring of the patients was carried out in the SG. A thorough comparison of pachymetric, aberrometric, and topometric values between the groups was performed, and the results were interpreted. A χ2 test, Mann–Whitney U test, and Pearson correlation test were used for statistical assessment. Results: Although the average Kmax (44.6 in the SG; 44.5 in the CG; P = 0.613) and Belin/Ambrósio enhanced ectasia total deviation value (1.34 in SG; 1.20 in CG; P = 0.880) were similar between the groups, the mean index of vertical asymmetry value in the SG (0.14 mm) was significantly higher than that in the CG (0.11 mm) (P = 0.041). Moreover, 28 eyes from 16 patients with psoriasis were found to be associated with KC because 26 of those 28 eyes were KC suspects and 2 of them were definite KC. A positive correlation was found among topometric parameters, especially between duration of the disease and PASI score. A negative correlation was discovered between topometric parameters and the early beginning of psoriasis. Conclusions: Serious changes in topography maps may occur in psoriatic patients. The changes were found to be more evident in the presence of a higher PASI score and the early beginning and longer duration of the disease. The results hinted a potential relationship between psoriasis and KC.

Basal cell carcinoma (BCC) is the most common malignant tumor in humans. It can be seen anywhere in the skin, although more than 80% occurs in areas exposed to the sun, such as the head and neck. Chronic exposure to sunlight is thought to be the main etiological factor. Although the risk of metastasis in BCC is very low, the tumor may be locally aggressive and cause tissue destruction. We present three cases of BCC in atypical locations, the waist region, the lateral femoral region, and the perineal region. No predisposing factor in terms of etiology of BCC was encountered in these patients' histories. We are presenting our cases, together with a discussion of the current literature, to emphasize that BCC should be considered even in atypically located lesions.