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Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
James W Behan, Adam Sutton, Ashley Wysong
Skin cancer is the most common of human cancers and outnumbers all other types of cancer combined in the USA by over threefold. The majority of non-melanoma skin cancers are easily treated with surgery or locally destructive techniques performed under local anesthesia in the cost-effective outpatient setting. However, there is a subset of "high-risk" cases that prove challenging in terms of morbidity, mortality, adjuvant treatment required, as well as overall cost to the health care system. In our opinion, the term "high risk" when applied to skin cancer can mean one of three things: a high-risk tumor with aggressive histologic and/or clinical features with an elevated risk for local recurrence or regional/distant metastasis, a high-risk patient with the ongoing development of multiple skin cancers, and a high-risk patient based on immunosuppression...
December 2016: Current Treatment Options in Oncology
Cui Hongzhou, Guo Shuping, Wang Wenju, Li Li, Wei Lulu, Deng Linjun, Li Jingmin, Ren Xiaoli, Bai Li
In recent years, molecular biology has proven to be a great asset in our understanding of mechanisms in genodermatoses. However, bench to bedside translation research lags far behind. Advances in lab-on-a-chip technologies enabled programmable, reconfigurable, and scalable manipulation of a variety of laboratory procedures. Sample preparation, microfluidic reactions, and continuous monitoring systems can be integrated on a small chip. These advantages have attracted attention in various fields of clinical application including diagnosis of inherited skin diseases...
September 13, 2016: Journal of Dermatological Science
Mahesh Prajapat, Sunil K Kothiwala, Mohit Sharma, C M Kuldeep
Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.
September 2016: Indian Dermatology Online Journal
Marie Chinazzo, Gérard Lorette, Robert Baran, Antoine Finon, Élie Saliba, Annabel Maruani
INTRODUCTION: The anatomy and embryology of the nail are well known, and nail abnormalities are a feature of many genodermatoses. However, the physiological aspect is not well described. We aimed to analyse the physiological features of nails in healthy newborns. METHODS: We performed an observational, prospective study at University Hospital Center of Tours between July and October 2015. Newborns were included by a dermatologist assistant during the systematic examination on release of the mother from the hospital...
September 23, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Keshavmurthy A Adya, Arun C Inamadar, Aparna Palit
Cutaneous pitting, dimpling, or depressions are frequently dealt with in clinical practice. Such lesions may be primary manifestations of a disorder or develop as secondary changes during the course of the disease. Cutaneous pitting may be a manifestation of certain genodermatoses and internal disorders when it serves as a marker of such conditions. This article describes various types of pitted lesions affecting the ectodermal structures (skin, nails, and teeth) and their clinical significance along with brief description of the associated conditions...
September 9, 2016: International Journal of Dermatology
H Montaudié, C Chiaverini, E Sbidian, A Charlesworth, J-P Lacour
BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy and/or gene involved, type(s) of mutation present and sometimes specific mutation(s), allow to define the EB type and subtype. This family of genodermatoses exposes patients to several complications, cutaneous squamous cell carcinoma (cSCC) being the most severe of them...
2016: Orphanet Journal of Rare Diseases
M-L Lovgren, M A McAleer, A D Irvine, N J Wilson, S Tavadia, M E Schwartz, C Cole, A Sandilands, F J D Smith, M Zamiri
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs...
August 18, 2016: British Journal of Dermatology
C Prodinger, A Diem, J W Bauer, M Laimer
Mucosal lesions occur with different prevalence and severity in all subtypes of hereditary epidermolysis bullosa (EB), a group of rare genodermatoses. They are associated with increased morbidity and mortality, especially in severe junctional and dystrophic subtypes. Despite progress in clinical approaches to curative therapy, the management of these patients is still primarily symptom-oriented. Current recommendations mainly rely on expert opinion and experience from health care professionals of specialized centers, since the rarity of this disease largely limits the availability and feasibility of randomized controlled trials...
October 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Manika Arora, Deepa Mane
No abstract text is available yet for this article.
July 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Leonardo Murgiano, Dominik P Waluk, Rachel Towers, Natalie Wiedemar, Joëlle Dietrich, Vidhya Jagannathan, Michaela Drögemüller, Pierre Balmer, Tom Druet, Arnaud Galichet, M Cecilia Penedo, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)" for this specific form of brindle. In some BR1 horses, the stripes were also differentially pigmented. Pedigree analyses were suggestive of a monogenic X-chromosomal semidominant mode of inheritance. Haplotype analyses identified a 5 Mb candidate region on chromosome X...
2016: G3: Genes—Genomes—Genetics
Kiran Kumar, A S Shilpasree, Meenakshi Chaudhary
Genodermatoses refers to group of inherited monogenic disorders with skin manifestations. Many of these disorders are rare and also have oral manifestations, called oral genodermatoses. This article provides a focused review of molecular basis of important genodermatoses that affects the oral cavity and also have prominent associated dermatologic features. In several conditions discussed here, the oral findings are distinct and may provide the first clue of an underlying genetic diagnosis. The article also emphasises on the prenatal diagnosis, genetic counselling and the treatment oral genodermatoses...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Tosso Leeb, Eliane J Müller, Petra Roosje, Monika Welle
BACKGROUND: Molecular genetics has made significant advances in the analysis of hereditary dermatoses during the last several years. OBJECTIVES: To provide an update on currently available genetic tests for skin diseases of dogs, cats and horses, and to aid the veterinary clinician in the appropriate selection and applications of genetic tests. METHODS: The scientific literature on the topic was critically reviewed. The list of known causative variants for genodermatoses and hair morphology traits was compiled by searching the Online Mendelian Inheritance in Animals (OMIA) database...
July 18, 2016: Veterinary Dermatology
Santasree Banerjee, Qian Wu, Yuyi Ying, Yanni Li, Matsuyuki Shirota, Dante Neculai, Chen Li
The K1 and K10 associated genodermatoses are characterized by clinical symptoms of mild to severe redness, blistering and hypertrophy of the skin. In this paper, we set out to computationally investigate the structural and functional effects of missense mutations on the 2B domain of K1/K10 heterodimer and its consequences in disease phenotype. We modeled the structure of the K1/K10 heterodimer based on crystal structures for the human homolog K5/K14 heterodimer, and identified that the missense mutations exert their effects on stability and assembly competence of the heterodimer by altering physico-chemical properties, interatomic interactions, and inter-residue atomic contacts...
July 13, 2016: Oncotarget
Cathy Y Zhao, Dedee F Murrell
PURPOSE OF REVIEW: Neonatal blistering diseases are rare yet potentially fatal. Therefore, it is crucial for clinicians to know its broad range of differential diagnoses. This review discusses the recent literature on the causes and the most appropriate clinical approach to neonatal blistering diseases. RECENT FINDINGS: Neonatal infections are the commonest causes for neonatal blistering. On the other hand, autoimmune blistering diseases are extremely rare with the literature limited to case reports and one systematic review only...
August 2016: Current Opinion in Pediatrics
Iana Turcan, Anna M G Pasmooij, Peter C Van den Akker, Henny Lemmink, Richard J Sinke, Marcel F Jonkman
Importance: Epidermolysis bullosa simplex (EBS) is a group of clinically and genetically diverse mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Recently, mutations in EXPH5 encoding exophilin-5 (also known as Slac2-b, an effector protein involved in intracellular vesicle trafficking and exosome secretion) have been implicated in the pathophysiology of EBS. Herein, we report a novel homozygous nonsense mutation in EXPH5 responsible for an EBS subtype with mottled pigmentation...
July 6, 2016: JAMA Dermatology
Olivier Bornert, Patricia Peking, Jeroen Bremer, Ulrich Koller, Peter C van den Akker, Annemieke Aartsma-Rus, Anna M G Pasmooij, Eva M Murauer, Alexander Nyström
Genetic disorders affecting the skin, genodermatoses, constitute a large and heterogeneous group of diseases, for which treatment is generally limited to management of symptoms. RNA-based therapies are emerging as a powerful tool to treat genodermatoses. In this review, we discuss in detail RNA splicing-modulation by antisense oligonucleotides and RNA trans-splicing, transcript-replacement and genome editing by in vitro transcribed mRNAs, and gene knockdown by small interfering RNA and antisense oligonucleotides...
July 4, 2016: Experimental Dermatology
Julie V Schaffer
In the past 2 decades, there has been enormous progress in determining the molecular bases of genodermatoses. This progress has expanded the interface between dermatology and genetics. Integration of clinical and molecular data has simplified disease classification and highlighted relationships among conditions. However, the recent explosion in genetic knowledge has not yet been fully incorporated into clinical dermatology practice or dermatology resident education. This article highlights strategies to overcome barriers and correct practice and educational gaps, enhancing the ability of dermatologists to diagnose, counsel, evaluate, and treat patients and families affected by genodermatoses...
July 2016: Dermatologic Clinics
M Badawy Abdel-Naser, Christos C Zouboulis
Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macrostomia, Coffin-Siris, Gorlin-Goltz, and Werner...
June 25, 2016: Reviews in Endocrine & Metabolic Disorders
Niharika Mehta, Kenneth K Chen, George Kroumpouzos
This review presents the approach of the obstetric medicine physician to skin disease in pregnancy. It elaborates on common skin-related problems during gestation, such as pruritus, with or without eruption, and drug eruptions. An algorithmic approach to the differential diagnosis of pruritus in pregnancy is outlined. Also, the review focuses on how to diagnose promptly endocrinopathies presenting with skin manifestations in pregnancy, such as Addison disease, diabetes, and hyperthyroidism. The prompt diagnosis of endocrine disorders can help to optimize management and improve outcomes...
May 2016: Clinics in Dermatology
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