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https://www.readbyqxmd.com/read/28815464/inherited-nonsyndromic-ichthyoses-an-update-on-pathophysiology-diagnosis-and-treatment
#1
REVIEW
Anders Vahlquist, Judith Fischer, Hans Törmä
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis...
August 16, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28799537/hpv-16-in-a-distinct-subset-of-oral-epithelial-dysplasia
#2
Mark A Lerman, Soulafa Almazrooa, Neal Lindeman, Dimity Hall, Alessandro Villa, Sook-Bin Woo
Human papillomavirus (HPV) 16 is the most common high-risk HPV type identified in oropharyngeal and cervical neoplasia. Recently, HPV-associated oral epithelial dysplasia with specific histopathologic features and demographics similar to HPV-oropharyngeal carcinoma has been identified. The objective of this study was to evaluate histopathologically all cases of HPV-oral epithelial dysplasia seen in one center and identify HPV types in a subset of cases. Cases with specific histopathology for HPV-oral epithelial dysplasia that were positive both by immunohistochemical studies for p16 and by in situ hybridization for high-risk types of HPV were further analyzed using QIAamp DNA Tissue Kits (Qiagen, Hilden, Germany)...
August 11, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28794556/keratin-17-mutations-in-four-families-from-india-with-pachyonychia-congenita
#3
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals...
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28782451/ichthyosis-fetalis-in-polled-hereford-and-shorthorn-calves
#4
Brendon A O'Rourke, Jillian Kelly, Zoe B Spiers, Patrick L Shearer, Naomi S Porter, Pietro Parma, Maria Longeri
Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ichthyosis fetalis, a Polled Hereford and a Shorthorn. Both cases had hard white plaques on the skin consistent with excessive keratinization. This was confirmed by histopathology, which showed severe diffuse epidermal and follicular orthokeratotic hyperkeratosis. The known mutation (H1935R) in gene ABCA12, responsible for ichthyosis fetalis in Chianina cattle, was shown to be absent in both affected calves and their obligate heterozygous parents...
August 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28774589/biallelic-mutations-in-kdsr-disrupt-ceramide-synthesis-and-result-in-a-spectrum-of-keratinization-disorders-associated-with-thrombocytopenia
#5
Takuya Takeichi, Antonio Torrelo, John Y W Lee, Yusuke Ohno, María Luisa Lozano, Akio Kihara, Lu Liu, Yuka Yasuda, Junko Ishikawa, Takatoshi Murase, Ana Belén Rodrigo, Pablo Fernández-Crehuet, Yoichiro Toi, Jemima Mellerio, José Rivera, Vicente Vicente, David P Kelsell, Yutaka Nishimura, Yusuke Okuno, Daiei Kojima, Yasushi Ogawa, Kazumitsu Sugiura, Michael A Simpson, W H Irwin McLean, Masashi Akiyama, John A McGrath
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms and soles as well as anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin...
July 31, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28769136/nail-involvement-in-psoriatic-arthritis
#6
REVIEW
Piotr Sobolewski, Irena Walecka, Klaudia Dopytalska
Nail psoriasis is considered a significant psychological and social problem causing functional impairment in affected patients. Nail changes hamper their daily and occupational activities and contribute to a worse quality of life. Almost 50% of patients with psoriasis vulgaris and up to 80% of patients with psoriatic arthritis are afflicted with nail lesions. The important correlation between psoriatic arthritis and nail changes is well established - the presence of the latter is a strong predictor of the development of arthritis...
2017: Reumatologia
https://www.readbyqxmd.com/read/28748570/lichen-planopilaris-in-a-latin-american-chilean-population-demographics-clinical-profile-and-treatment-experience
#7
F Mardones, J Shapiro
BACKGROUND: Lichen planopilaris (LPP) is characterized by lymphocytic infiltrate, fibrosis and potential destruction of the hair follicle. Demographic and clinical studies in LPP are limited, and racial differences have not been thoroughly investigated. AIM: To analyse epidemiological data and clinical profiles of Chilean adults with LPP, and report on the treatments used. METHODS: This was a retrospective review of medical records and clinical follow-up of Chilean adults with a clinical and histopathological diagnosis of LPP...
July 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28730234/associated-lesions-of-peri-implant-mucosa-in-immediate-versus-delayed-loading-of-dental-implants
#8
Alexandru Andrei Iliescu, Sabina Andrada Zurac, Vasile Nicolae, Mihaela Georgiana Iliescu, Paula Perlea
Currently, immediate loading of dental implants is very attractive as a standard protocol for prosthetic restorations in edentulous patients. The aim of this study is to find out the intimate peri-implant mucosa response depending on timing of implant loading, immediate or delayed. Fifty-one screw implants Alpha Bio (Alpha-Bio Tec, Israel) were inserted in 42 partially edentulous patients according to standardized surgical techniques. At six months of loading, samples of peri-implant mucosa were harvested from 27 immediate loaded, respectively 24 delayed loaded implants, and subjected to microscopic examination...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28722455/-hidradenitis-suppurativa-symptoms-diagnostics-and-therapy
#9
Monika Arenbergerová, Robert Artur Dahmen, Petr Arenberger
Hidradenitis suppurativa is a chronic skin disorder characterized by recurrent inflammatory nodules, fistulas, abscesses, and scarring mainly in the intertriginous areas with terminal hair and apocrine glands. Hidradenitis suppurativa manifests usually after puberty, in the third life decade and persists for many years. The prevalence of the disease is estimated to be 0,5 % in the Czech Republic. Women are most often affected in the axillary and inguinal parts, while men in the perianal and gluteal areas. The exact pathogenesis is still unknown...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28702024/full-length-interleukin-33-aggravates-radiation-induced-skin-reaction
#10
Olga Kurow, Benjamin Frey, Louis Schuster, Verena Schmitt, Susanne Adam, Madelaine Hahn, Derek Gilchrist, Iain B McInnes, Stefan Wirtz, Udo S Gaipl, Gerhard Krönke, Georg Schett, Silke Frey, Axel J Hueber
The interleukin (IL)-1 family member IL-33 has been described as intracellular alarmin with broad roles in wound healing, skin inflammation but also autoimmunity. Its dichotomy between full length (fl) IL-33 and the mature (m) form of IL-33 and its release by necrosis is still not fully understood. Here, we compare functional consequences of both forms in the skin in vivo, and therefore generated two lines of transgenic mice which selectively overexpress mmIL-33 and flmIL-33 in basal keratinocytes. Transgene mRNA was expressed at high level in skin of both lines but not in organs due to the specific K14 promoter...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28696052/dermoscopic-and-reflectance-confocal-microscopy-features-of-cutaneous-squamous-cell-carcinoma
#11
Marco Manfredini, Caterina Longo, Ferrari Barbara, Simonetta Piana, Elisa Benati, Alice Casari, Giovanni Pellacani, Elvira Moscarella
BACKGROUND: Squamous cell carcinoma (SCC) of the skin is a highly prevalent neoplasm. The management and the prognosis of this tumor is dependent on its invasiveness and its grade of differentiation. OBJECTIVES: To evaluate whether specific dermoscopic and reflectance confocal microscopy (RCM) criteria can predict the diagnosis of invasive SCC vs in situ SCC and poorly differentiated compared with well- and moderately differentiated SCC. METHODS: Dermoscopic and RCM images of SCCs were retrospectively evaluated for the presence of predefined criteria...
July 11, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28677199/acne
#12
Klaus Degitz, Falk Ochsendorf
Acne is a chronic disease with a high prevalence among adolescents. Key pathogenetic factors (and their clinical correlates) are increased sebum production (seborrhea), follicular hyperkeratosis (comedones), and perifollicular inflammation (papules and pustules). The disease is modulated by a variety of endogenous (androgens, IGF-1, neuroendocrine factors) and exogenous (Propionibacterium acnes, diet, friction, ingredients of medical or cosmetic topical products) triggers. Acne is associated with high morbidity, and even mild manifestations may potentially cause considerable impairment in quality of life...
July 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28672080/ki67-cd105-and-%C3%AE-sma-expression-better-relates-the-binary-oral-epithelial-dysplasia-grading-system-of-world-health-organization
#13
Amol Ramchandra Gadbail, Minal S Chaudhary, Sachin C Sarode, Madhuri Gawande, Sheetal Korde, Satyajit Ashok Tekade, Shailesh Gondivkar, Alka Hande, Rupesh Maladhari
BACKGROUND: The binary system of oral epithelial dysplasia (OED) has never been investigated with reference to the carcinogenesis related biomarkers. Hence, Ki67, CD105, and α-SMA immune-expression were studied in oral potentially malignant disorders (OPMDs) to assess their relationship with the binary OED grading system of World Health Organization. METHODS: The study was carried out on paraffin-embedded tissues of 30 normal oral mucosa (NOM) and 140 OPMD cases...
July 3, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28668735/characteristics-of-patients-with-fibromyalgia
#14
José Manuel Padín Galea, María Jesús Fernández-Aceñero, José Luis Moreno de la Fuente
BACKGROUND: Fibromyalgia is characterised by generalized pain. A search of the available literature found no previous reports describing the specific characteristics of patients with fibromyalgia. OBJECTIVES: To describe characteristics of patients with fibromyalgia. MATERIAL AND METHODS: Case-control study including 50 patients with fibromyalgia and 50 gender and age-matched controls. After obtaining written informed consent for the study, demographic data were collected and pain in the leg, ankle and foot area was measured using a visual analogue scale (VAS)...
April 4, 2017: Foot
https://www.readbyqxmd.com/read/28662209/narrow-band-imaging-nbi-for-improving-the-assessment-of-vocal-fold-leukoplakia-and-overcoming-the-umbrella-effect
#15
H Klimza, J Jackowska, M Tokarski, K Piersiala, M Wierzbicka
BACKGROUND: It is crucial to find a balance between functional and oncological outcome when choosing an adequate method for the management of vocal fold leukoplakia. Therefore, a detailed examination is a milestone in the decision-making process. AIM: To examine whether narrow-band imaging (NBI) can be helpful in vocal fold assessment in the case of leukoplakia and how to overcome the "umbrella effect"- understood as the submucosal vascular pattern hidden under the plaque...
2017: PloS One
https://www.readbyqxmd.com/read/28656915/clinical-and-serological-characteristics-of-nail-psoriasis-in-indian-patients-a-cross-sectional-study
#16
Deepashree Daulatabad, Chander Grover, Bineeta Kashyap, Amit Kumar Dhawan, Archana Singal, Iqbal R Kaur
BACKGROUND: Nail involvement in psoriasis is common with a lifetime incidence of 80-90%. It may reflect severity of cutaneous involvement and predict joint disease. Yet it remains, poorly studied and evaluated especially in Indian psoriatic patients. AIM: The present study was undertaken to evaluate clinical and serological profile of nail involvement in psoriasis and to assess quality of life impairment associated with nail involvement in Indian patients. METHODS: Consecutive patients with nail psoriasis were assessed for severity of cutaneous disease (psoriasis area severity index score) and nail disease (nail psoriasis severity index score)...
June 28, 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28625501/hyperkeratosis-and-discoloration-of-the-toenails-in-an-8-year-old
#17
Karlyn Pollack, Barrett Zlotoff, Barbara Wilson
No abstract text is available yet for this article.
June 15, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28619040/helicobacter-suis-induces-changes-in-gastric-inflammation-and-acid-secretion-markers-in-pigs-of-different-ages
#18
C De Witte, B Devriendt, B Flahou, I Bosschem, R Ducatelle, A Smet, F Haesebrouck
Gastric mRNA expression of markers for acid secretion and inflammation and presence of gastric ulceration was studied in naturally Helicobacter suis-infected and non-infected 2-3 months old, 6-8 months old and adult pigs. In H. suis-infected 2-3 months old pigs, IL-8 and IL-1β transcript levels were upregulated in the pyloric gland zone, indicating an innate immune response. A similar response was demonstrated in the fundic gland zone of adult pigs, potentially due to a shift of H. suis colonization from the pyloric to the fundic gland zone...
June 15, 2017: Veterinary Research
https://www.readbyqxmd.com/read/28618767/skin-findings-in-autoimmune-and-nonautoimmune-thyroid-disease-with-respect-to-thyroid-functional-status-and-healthy-controls
#19
Mümtaz Takir, Emin Özlü, Osman Köstek, Zafer Türkoğlu, Hasan Hüseyin Mutlu, Tuğba Kevser Uzunçakmak, Necmettin Akdeniz, Ayşe Serap Karadağ
BACKGROUND/AIM: Thyroid disorders are associated with a wide variety of skin disorders that respond to treatment of hormone imbalance in most cases and thus are of vital importance to dermatologists. This study aimed to evaluate skin findings associated with autoimmune and nonautoimmune thyroid disease with respect to thyroid functional status and healthy controls. MATERIALS AND METHODS: A total of 300 consecutive patients with either autoimmune (n = 173) or nonautoimmune (n = 127) thyroid disease and 100 healthy control subjects were included in this cross-sectional study...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28611627/panniculitis-associated-with-mek-inhibitor-therapy-an-uncommon-adverse-effect
#20
Miruna Negulescu, Florian Deilhes, Vincent Sibaud, Emilie Tournier, Laurence Lamant, Serge Boulinguez, Nicolas Meyer
The combination of MEK inhibitor (cobimetinib, trametinib) and BRAF inhibitor (vemurafenib, dabrafenib) is now the first-line treatment in patients with BRAF V600-mutated metastatic melanoma. This association reduces cutaneous adverse events induced by BRAF inhibitors alone, including photosensitivity, hand-foot syndrome, hyperkeratosis, alopecia, skin papillomas, keratoacanthomas, and squamous-cell carcinomas. While panniculitis has exceptionally been reported with BRAF inhibitors, this rare side effect has never been described with the use of MEK inhibitors...
January 2017: Case Reports in Dermatology
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