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.
The review is devoted to genetic research in cancer of the vulva. In genetic changes, the mutation irreversibly changes the nucleotide sequence of DNA, or the number of copies of chromosomes changes per cell. In epigenetics, the nucleotide sequence remains unchanged, but gene activity is regulated by methylation of DNA or modification of histones. Most of the studies analyzed are devoted to the study of mutations in the TP53 gene. Many studies indicate that somatic mutations are more common in HPV-negative than in HPV-positive patients. Epigenetic studies in the main devoted to hypermethylation. The gene CDKN2A is most often studied in epigenetic terms. For most of the studied genes, hypermethylation occurs more often in squamous cell carcinoma of the vulva than in the precursors.
На наличие сосудистых нарушений у пациентов со склеродермией указывают ряд авторов. Так, B. Kahaleh [1] в своей работе доказывает, что сосудистые изменения присутствуют у каждого пациента со склеродермией и являются основным источником заболеваемости и смертности. У многих пациентов в связи с этим в будущем могут развиться серьезные, а иногда опасные для жизни сосудистые поражения. В своей статье B. Kahaleh [1] приводит достоверные доказательства того, что поражения микроциркуляции происходят уже на ранней стадии заболевания. Кроме того, у многих пациентов в исходе хронического процесса могут произойти потеря пальцев и легочная артериальная гипертензия. Способность обнаружить этот процесс на ранней стадии простыми методами имеет большую диагностическую ценность, поскольку возможности лечения этих сосудистых осложнений улучшаются с те-
107 patients (34 female and 73 male) diagnosed with “generalized psoriasis vulgaris, exudative form, progressive stage” were evaluated for the levels of anxiety and depression. These measurements were carried out along with psychiatrist interview, taking into consideration anamnestic and status information. 67,3% of patients unhesitatingly marked that a previous psychological trauma had caused the current exacerbation of psoriasis. The study reveals interrelationship between the psychiatric and somatic components of psoriasis. We managed to reach marked remission in 19 patients using low doses of psychotropic drugs along with primary dermatological treatment.
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