Fig 1 - available via license: Creative Commons Attribution-NonCommercial 4.0 International
Content may be subject to copyright.
The patient presented with multiple basal cell carcinomas on the head, a typical feature for Gorlin syndrome.
Source publication
Acute and chronic UV exposure is an important risk factor leading to photocarcinogenesis, photoimmuno-suppression and photoaging (1, 2). Patients with Gorlin syndrome (GS) harbour a hereditary predisposition to develop basal cell carcinomas (BCC) and are, therefore, advised that effective sun protection is essential and can help reduce skin cancer...
Similar publications
Basal cell carcinoma is the most frequent skin cancer, generally located in hair-bearing, sunlight-exposed areas. Basal cell carcinoma usually occurs on the head and neck, but very rarely on extra-facial locations. We report a case of a 65-year-old woman presenting with a solitary non-healing ulcer on the sole of the right foot for two years. Histo...
Citations
D Vitamini Kimyasal Yapısı ve Metabolizması Hülya Cenk D Vitamini Ve Genetik Aydın Rüstemoğlu D Vitamininin Normal Serum Düzeyleri, D Vitamin Düzeylerini Etkileyen Faktörler Ve D Vitamini Yetmezliği Sabiye Akbulut Serum D Vitamininin Ölçümü Andaç Uzdoğan, Çiğdem Yücel D Vitamini Biyoyararlanımı ve Doğal Beslenme Kaynakları Atilla Çifci, Halil İbrahim Yakut Sistemik D Vitamini Tedavi Ajanları, Biyoyararlanımı ve Tedavi Yönetimi Işıl Deniz Oğuz Topikal D Vitamini Tedavisi, Tedavi Yönetimi ve Kullanıldığı Hastalıklar Dursun Türkmen Deride D Vitamini Sentezi Mekanizmaları Abdullah Demirbaş, Ömer Faruk Elmas Güneşten Koruyucu Kullanımı ve D Vitamini Nursel Dilek, Yunus Saral D Vitamininin Deri Yapısı ve Fizyolojisine Etkisi Pelin Hızlı Deri Yaşlanması ve D Vitamini Ülker Gül Psoriasis ve D Vitamini Ülker Gül Psöriatik Artrit ve D Vitamini Mehmet Uçar Atopik Dermatit ve D Vitamini Ayşegül Ertuğrul, İlknur Bostancı Mast Hücresi ve Kutanöz Mastositozda D Vitamini Selçuk Doğan, Tülin Çataklı, İlknur Bostancı Ürtiker ve D Vitamini Kemal Özyurt Kaşıntı ve D Vitamini Kübra Yüce Atamulu Likenoid Dermatozlar ve D Vitamini Nihal Altunışık Vitiligo ve D Vitamini Ayşe Akbaş Melasma ve D Vitamini İbrahim Etem Arıca Rozase ve D Vitamini Nalan Saraç Akne ve D Vitamini Selma Korkmaz Hidradenitis Süpürativa ve D Vitamini Yılmaz Ulaş Seboreik Dermatit ve D Vitamini Dilek Başaran Otoimmün Büllöz Hastalıklar ve D Vitamini Sezgi Sarıkaya Solak Bağ Doku Hastalıkları ve D Vitamini Kevser Gök Behçet Hastalığı ve D Vitamini Şule Ketenci Ertaş, Ragıp Ertaş İdiyopatik Fotodermatozlar ve D Vitamini Bülent Nuri Kalaycı İktiyozis ve D Vitamini Tubanur Çetinarslan Epidermolizis Bülloza ve Vitamin D Eda Haşal Kseroderma Pigmentozum, Epidermodisplasia Verrusiformis ve D Vitamini Derya Yayla Nevüsler ve D Vitamini Serpil Şener, Suat Sezer Aktinik Keratoz ve Seboreik Keratozda D Vitamini Mahmut Sami Metin Deri Maliniteleri ve D Vitamini Sevda Önder Vaskülitler ve Vitamin D Havva Hilal Ayvaz Venöz Trombozis ve D Vitamini Cahit Yavuz Yara İyileşmesi ve D Vitamini Bülent Nuri Kalaycı Diyabetik Ayak Ülseri ve D Vitamini Gözde Ulutaş Demirbaş, Abdullah Demirbaş Granülomatöz Hastalıklar ve D Vitamini Selma Bakar Dertlioğlu Deri Enfeksiyonları ve Vitamin D Atıl Avcı Oral Mukoza Hastalıkları ve D Vitamini Ali İhsan Güleç Tırnak Sağlığı ve Hastalıklarında D Vitamini Hülya Cenk Alopesiler ve D Vitamini Munise Daye Hirsutizm ve D Vitamini Efşan Gürbüz Yontar Sistemik Kortikosteroid Kullanımında D Vitamini Desteği Selma Korkmaz Fototerapi ve D Vitamini Tuğba Özkök Akbulut Covıd-19 Ve Vitamin D Sibel Altunışık Toplu D Vitamini Tedavisinin Yan Etkileri ve D Vitamini Tedavisi Sürecinde Dikkat Edilecek Hususlar Dursun Türkmen, Nihal Altunışık D Vitamini Ve İlaç İlaç Etkileşimleri Şule Gökşin D Vitamini İntoksikasyonu Bedriye Müge SÖNMEZ
Basal cell nevoid carcinoma syndrome (BCNCS) is a rare autosomal dominant genetic syndrome that is predisposed to cancer. It is characterized by the presence of multiple basal cell carcinomas (BCCs) on the skin, as well as numerous maxillary odontogenic keratocyst (QTOs), palmoplantar punctate depressions (pits), skeletal abnormalities, and other developmental defects. The genetic basis of this syndrome lies in causal mutations in the PTCH1 gene, a tumor suppressor gene located on chromosome 9. The present study aimed to review recent literature concerning SCNBC, addressing aspects such as clinical manifestations, diagnostic criteria, genetic etiology, and molecular tests used. A total of 88 articles were included, most of which were clinical cases. Among the clinical manifestations, QTOs were the most frequently mentioned major diagnostic criteria, followed by calcification of the cerebral sickle. Ocular anomalies, on the other hand, were the alterations belonging to the most prevalent minor criteria. A total of 18 clinical cases underwent molecular testing for mutations in the PTCH1 gene. The most used methods were genetic sequencing and the mutations frequently found were frameshift and nonsense mutation, which occurred in exons 2, 3, 6, 8, 11, 12, 18, and 21. Despite the existence of several mutations in the PTCH1 gene that are attributable to the etiology of SCNBC, the performance of diagnostic molecular tests were not performed in many of the studies analyzed, and even those that did not identify a correlation with the patient's phenotype or prognosis, and these are indicated only in some particular cases.
Background
Global concern about vitamin D deficiency has fueled debates on photoprotection and the importance of solar exposure to meet vitamin D requirements.
Methods
An international panel of thirteen experts in endocrinology, dermatology, photobiology, epidemiology and biological anthropology reviewed the literature prior to a one‐day meeting in June 2017, during which the evidence was discussed. Methods of assessment and determining factors of vitamin D status, and public health perspectives were examined and consequences of sun exposure and the effects of photoprotection were assessed.
Results
A serum level of ≥ 50 nmol/L 25(OH)D is a target for all individuals. Broad‐spectrum sunscreens, that prevent erythema, are unlikely to compromise vitamin D status in healthy populations. Vitamin D screening should be restricted to those at risk of hypovitaminosis, such as patients with photosensitivity disorders, who require rigorous photoprotection. Screening and supplementation are advised for this group.
Conclusions
Sunscreen use for daily and recreational photoprotection does not compromise vitamin D synthesis, even when applied under optimal conditions.
This article is protected by copyright. All rights reserved.
Basal cell nevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, namely Patched 1 gene. The classic triad of symptoms consists of basal cell carcinomas (BCCs), keratocysts, and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms, in addition to the development of several types of tumors, early diagnosis and close monitoring is essential to preserve quality of life. Targeting treatment is often difficult because of tumor prevalence. Newer inhibitors of Hedgehog signaling pathway and proteins involved in proliferative growth have shown therapeutic promise. In addition, preventive medications are being devised. We propose a method for determining appropriate treatment for cutaneous tumors. This article is protected by copyright. All rights reserved.
