Peutz-Jeghers syndrome in dermatology.

Peutz-Jeghers syndrome is a rare autosomal dominant disorder. Approximately 1:25,000 to 1:280,000 cases are registered annually. The pathogenesis of the disease is based on the mutation of the STK 11 gene on chromosome 19. Peutz-Jeghers syndrome is characterized by several symptoms: the formation of multiple hamartomatous polyps primarily in the gastrointestinal tract and hyperpigmentation of the mucous membranes and skin. Patients with Peutz-Jeghers syndrome often develop various malignant neoplasms, mainly localized in the pancreas and colon. We describe Peutz-Jeghers syndrome in a girl 4 years 7 months old. Initially, the child was diagnosed with vitiligo due to complaints of depigmentation of the skin of the face and hands. During re-examination after half a year, foci of hyperpigmentation on the lip and mucous membranes of the oral cavity were noted. Esophagogastroduodenoscopy showed the presence of a polypous lump in the stomach. Genetic consultation confirmed the diagnosis of Peutz-Jeghers syndrome. The absence of family history indicates a sporadic case characterized by diseases with an autosomal-dominant mode of inheritance. This clinical case demonstrates the need for gastroenterological and genetic examinations in the presence of lesions on the oral mucosa and the vermillion border of the lips to confirm or exclude Peutz-Jeghers syndrome.

Association of GA genotype of SNP rs4680 in COMT gene with psoriasis.

Psoriasis is a multigene and multifactorial skin disease with heterogeneous genetic inheritance. Mental disorders participate in the development of psoriasis as predisposing factors; a correlation of dermatological diseases with pathological anxiety and stress was shown. Meanwhile, there are no studies describing molecular mechanisms of the linkages between psycho-emotional disorders and skin diseases. The aim of this study is to find the associations between SNP in genes COMT (rs4680), DBH (rs141116007), CCKAR (rs1800857) and CCKBR (rs1805002), and psoriasis. Patients were selected according to the 10th revision of International Classification of Diseases (L-40). The sample size was 88 patients. The size of the control sample (population control) was 365 people. Genotyping was performed using PCR-RFLP and real-time PCR. Statistical analysis was performed using WinPepi software. Identification of complex genotypes was performed by the Monte Carlo method using APSampler 3.6.1 algorithm. Among the studied genes, only GA genotype of COMT gene is significantly associated with psoriasis [χ2 = 19.163 (p = 1.3E-5), F (p) = 1.2E-5, OR 3.47 (CI 99% = 1.61-7.91)]. At the moment, the functional significance of this phenomenon is difficult to explain.