Dermatology
This is an OPML file. It can be used to export all the MedWorm RSS feeds on this topic into your personal RSS reader (usually you have to save this file to your own computer before clicking on an Import OPML command in your own feed reader to upload the file which will then import all the feeds) or it can be used by webmasters to integrate MedWorm feeds with their own website.
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog.
Subscribe to this data using MyMedWorm.
Subscribe to this data using GoogleReader.
Subscribe to this data using Bloglines.
Subscribe to this data using MyYahoo.
Find the best Christmas presents and January Sales in the UK with this simple shopping directory.
This page shows you the most recent publications within this specialty of the MedWorm directory.
Radiation therapy for lymph node metastasis from extramammary Paget's disease
ConclusionRadiation therapy is effective and safe, and appears to offer a curative treatment option for lymph node metastasis from EMPD. (Source: Journal of the European Academy of Dermatology and Venereology)
Source: Journal of the European Academy of Dermatology and Venereology - May 14, 2013 Category: Dermatology Authors: M. Hata, I. Koike, H. Wada, Y. Minagawa, T. Kasuya, T. Matsui, R. Suzuki, S. Takano, T. Inoue Tags: Original Article Source Type: research
UV‐induced occupational skin cancer: possibilities of secondary individual prevention in the “Dermatologist's Procedure”
Summary
Invasive squamous cell carcinoma (SCC) as a “quasi occupational disease” according to §9 Section 2 of the German Social Code Book (SGB) VII typically develops on chronically UV‐damaged skin from actinic keratoses. After the Medical Scientific Committee of the Federal Ministry of Labor and Social Affairs has confirmed the legal criteria for acknowledging UV‐induced SCC as an occupational disease, it is expected that the condition will be added to the official list of occupational diseases issued by the Federal Government in the near future. The Social Accident Insurance is required by law (§3 Occupational ...
Source: JDDG - May 14, 2013 Category: Dermatology Authors: Peter Elsner, Otto Blome, Thomas Ludwig Diepgen Tags: Review Source Type: research
Creabilis Announces Headline Results Of Its Phase 2b Trial Of Topical TrkA Kinase Inhibitor CT327
Clinically and Statistically Significant Reduction of Chronic Pruritus (Itch) Seen in Psoriasis Patients Creabilis, a late stage European dermatology company with a focus on chronic pruritus (itch), has announced headline results of its Phase 2b trial with its lead product, CT327, in psoriasis patients. CT327 is a novel, topical, TrkA kinase inhibitor developed using Creabilis' LSE (Low Systemic Exposure) technology that creates 'topical-by-design' drugs... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 14, 2013 Category: Consumer Health News Tags: Eczema / Psoriasis Source Type: news
Phase 1 study of cetuximab in combination with 5‐fluorouracil, cisplatin, and radiotherapy in patients with locally advanced anal canal carcinoma
CONCLUSIONSCetuximab could not be integrated with chemoradiotherapy‐cisplatin–based therapy due to the high toxicity rate. However, efficacy is encouraging and further investigation of an epidermal growth factor receptor–targeted agent (other than cetuximab) concurrent with chemoradiation should be pursued. Cancer 2013. © 2013 American Cancer Society. (Source: Cancer)
Source: Cancer - May 14, 2013 Category: Cancer & Oncology Authors: Luis O. Olivatto, Fernando M. Vieira, Bruno V. Pereira, Ana P. Victorino, Marcos Bezerra, Carlos M. Araujo, Felipe Erlich, Lilian Faroni, Leonaldson Castro, Edward C. Lusis, Alessandra Marins, Carlos Gil Ferreira Tags: Original Article Source Type: research
Genetics of hypopigmentary disorders
(Source: The Journal of Dermatology)
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Tags: Editorial Source Type: research
Modern vitiligo genetics sheds new light on an ancient disease
Abstract
Vitiligo is a complex disorder in which autoimmune destruction of melanocytes results in white patches of skin and overlying hair. Over the past several years, extensive genetic studies have outlined a biological framework of vitiligo pathobiology that underscores its relationship to other autoimmune diseases. This biological framework offers insight into both vitiligo pathogenesis and perhaps avenues towards more effective approaches to treatment and even disease prevention. (Source: The Journal of Dermatology)
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Authors: Richard A. Spritz Tags: Review Source Type: research
Albinism in Europe
Abstract
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively. Additionally, the rarest syndromic forms of albinism, affecting the normal function of other organs, can be grouped in Hermansky–Pudlak syndrome (HPS1–9) and the Chediak–Higashi syndrome (CHS1). In summar...
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Authors: Mónica Mártinez‐García, Lluís Montoliu Tags: Review Article Source Type: research
Hypopigmentation in Hermansky–Pudlak syndrome
ABSTRACT
Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently, nine genes have been identified as causative for HPS in humans. Hypopigmentation is the prominent feature of HPS, attributable to the disrupted biogenesis of melanosome, a member of the lysosome‐related organelle (LRO) family. Current understanding of the cargo transporting mechanisms into the melanosomes expands our knowledge of the pathogenesis of hypopigmentation in HPS patients. (Source: The Journal of Dermatology)
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Authors: Ai‐Hua Wei, Xin He, Wei Li Tags: Review Article Source Type: research
Alopecia areata possibly induced by autoimmune reaction in a patient with human T‐cell lymphotropic virus‐1‐associated myelopathy
Abstract
A 38‐year‐old female patient suffered from alopecia areata totalis followed by human T‐cell lymphotropic virus‐1‐associated myelopathy (HAM). These two diseases have recently been considered to be related to cell‐mediated autoimmune reactions. Immunohistochemistry revealed accumulation of CXCR3+ CD8+ T cells around hair bulbs in alopecic lesions. Furthermore, flow cytometric analysis showed the elevated frequency of CD8+ human leukocyte antigen DR+‐activated T cells at the initial time and declined at the hair regrowth phase with HAM. CD4+ CD25+ adult T‐cell leukemia/lymphoma cells were elevated at...
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Authors: Taisuke Ito, Shinichiro Shimada, Tatsuyoshi Mori, Yoshiki Tokura Tags: Concise Communication Source Type: research
Retraction
(Source: The Journal of Dermatology)
Source: The Journal of Dermatology - May 14, 2013 Category: Dermatology Tags: Retraction Source Type: research
Identification Of Gene Associated With Eczema In Dogs
A novel gene associated with canine atopic dermatitis has been identified by a team of researchers led by professors Kerstin Lindblad-Toh, Uppsala university and Ake Hedhammar, SLU, Sweden. The gene encodes a protein called plakophilin 2, which is crucial for the formation and proper functioning of the skin structure, suggesting an aberrant skin barrier as a potential risk factor for atopic dermatitis. Details appear in the open-access journal PLoS Genetics... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 13, 2013 Category: Consumer Health News Tags: Eczema / Psoriasis Source Type: news
Look for New, Improved Sunscreen Labels
Title: Look for New, Improved Sunscreen LabelsCategory: Health NewsCreated: 5/10/2013 12:35:00 PMLast Editorial Review: 5/13/2013 12:00:00 AM (Source: MedicineNet Skin General)
Source: MedicineNet Skin General - May 13, 2013 Category: Dermatology Source Type: news
Alopecias
Answers to the following quiz questions can be found on page 120. Question 1 Case 1: An otherwise healthy 6-month-old boy presents with several patches of alopecia, slowly increasing in size over the past month. He is noted to have two school-aged brothers at home. On examination, there is an erythematous, boggy mass on the scalp with associated alopecia and occipital lymphadenopathy (figure 1). What is the most likely diagnosis? Question 2 Case 2: A healthy 9-year-old girl presents with an enlarging patch of alopecia on the posterior scalp for 5 months. It is asymptomatic, and she denies any pustules or pruritus. The...
Source: Archives of Disease in Childhood - Education and Practice - May 13, 2013 Category: Pediatrics Authors: Lio, P. A., Lee, K. C. Tags: Immunology (including allergy), Child health, Disability, Dermatology, Ear, nose and throat/otolaryngology Dermatophile Source Type: research
Answers to Dermatophile questions
From questions on page 106. ANSWER TO Question 1 The answer is (D), kerion. This is a manifestation of tinea capitis, ringworm of the scalp. It can occur in more severe cases and in the very young, resulting in a boggy mass on the scalp with loss of hair. Diagnosis can be difficult as potassium hydroxide preparations can be negative in the presence of such inflammation; culture is frequently needed to prove scalp infection. Treatment must be in the form of an oral antifungal drug indicated for tinea capitis for sufficient duration. Use of a topical antifungal shampoo is recommended concurrently to decrease spread of ...
Source: Archives of Disease in Childhood - Education and Practice - May 13, 2013 Category: Pediatrics Authors: Lio, P. A., Lee, K. C. Tags: Journalology, Immunology (including allergy), Drugs: infectious diseases, Child health, Dermatology, Competing interests (ethics), Thyroid disease Dermatophile Source Type: research
Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management
Abstract
Capillary malformation–arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one‐third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation−arteriovenous malformation syndrome, propos...
Source: Pediatric Dermatology - May 13, 2013 Category: Dermatology Authors: Charisse M. Orme, Lynn M. Boyden, Keith A. Choate, Richard J. Antaya, Brett A. King Tags: Review Article Source Type: research
Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy
(Source: JDDG)
Source: JDDG - May 13, 2013 Category: Dermatology Authors: Robert Gruber, Anna Sarah Schossig, Kholood A. Alnutaifi, Verena Martinz, Stefan Blunder, Johannes Zschocke, Matthias Schmuth, Sigrid Tinschert Tags: Case for Diagnosis Source Type: research
Cutaneous clear cell sarcoma in a 12‐year‐old boy
(Source: JDDG)
Source: JDDG - May 13, 2013 Category: Dermatology Authors: Katharina Schwede, Tino Wetzig, Jan C. Simon, Lars Fischer, Claudia Wickenhauser, Leo Schärer, Mirjana Ziemer Tags: Clinical Letters Source Type: research
Identifying individual psychosocial and adherence support needs in patients with psoriasis: a multinational two‐stage qualitative and quantitative study
ConclusionQuestioning using the statements most associated with psychosocial impact and non‐adherence could help identify patients with additional support needs, and assist in overcoming adherence issues. (Source: Journal of the European Academy of Dermatology and Venereology)
Source: Journal of the European Academy of Dermatology and Venereology - May 13, 2013 Category: Dermatology Authors: A. Bewley, D. M. Burrage, S. J. Ersser, M. Hansen, C. Ward Tags: Original Article Source Type: research
Cellular interactions with biodegradable polyurethanes formulated from L-tyrosine
L-Tyrosine polyurethanes (LTUs) have been synthesized by structural modification of the poly (amino acid) backbone to circumvent the problems associated with the processing of poly (amino acids) arising from their high crystallinity, insolubility in common organic solvents, and high glass-transition and melting temperatures. Additionally, problems such as unpredictable swelling characteristics, change in conformation, and uncontrolled enzymatic degradation have severely restricted the use of poly (amino acids). In contrast, LTUs are designed to retain their superior physico-chemical properties, while incorporating biodegra...
Source: Journal of Biomaterials Applications - May 12, 2013 Category: Materials Science Authors: Shah, P. N., Yun, Y. H. Tags: Articles Source Type: research
Developing a diagnostic checklist of traditional Chinese medicine symptoms and signs for psoriasis: a Delphi study
Conclusion:
A checklist containing 96 items in 8 domains was developed for psoriasis diagnosis using traditional Chinese medicine symptoms and signs. (Source: Chinese Medicine)
Source: Chinese Medicine - May 12, 2013 Category: Complementary Medicine Authors: Xuesong YangVirasakdi ChongsuvivatwongEdward McNeilJianzhou YeXiaoyong OuyangEnpin YangHutcha Sriplung Source Type: research
Advanced Dermatology and Cosmetic Surgery (ADCS Clinics) Announces...
ADCS is a proud supporter of UCF Medical College Charter Class.(PRWeb May 09, 2013)Read the full story at http://www.prweb.com/releases/2013/5/prweb10714351.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 11, 2013 Category: Pharmaceuticals Source Type: news
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs
Conclusions: In this study we report reduced trabecular bone content and mineralization, and delayed cartilage to bone conversion in MPS I dogs from 3months-of-age, which may increase vertebral fracture risk and contribute to progressive deformity. The abnormalities of the odontoid process we describe likely contribute to increased incidence of atlanto-axial subluxation observed clinically. Therapeutic strategies that enhance bone formation may decrease incidence of spine disease in MPS I patients.Highlights: (Source: Bone)
Source: Bone - May 11, 2013 Category: Orthopaedics Authors: Joseph A. Chiaro, Matthew D. Baron, Chelsea M. del Alcazar, Patricia O'Donnell, Eileen M. Shore, Dawn M. Elliott, Katherine P. Ponder, Mark E. Haskins, Lachlan J. Smith Tags: Original Articles Source Type: research
Look for New, Improved Sunscreen Labels
Choosing effective sun protection should be easier now, experts say (Source: The Doctors Lounge - Oncology)
Source: The Doctors Lounge - Oncology - May 10, 2013 Category: Cancer & Oncology Authors: webmaster at doctorslounge.com Tags: Dermatology, Oncology, News, Source Type: news
Distribution patterns in generalized vitiligo
ConclusionThese results point to important differences in the distribution pattern according to the clinical characteristics. Although in some of these areas Koebner's phenomenon probably plays a role, other differences may represent a specific characteristic vulnerability related to the age, gender or typical association with autoimmune disease. (Source: Journal of the European Academy of Dermatology and Venereology)
Source: Journal of the European Academy of Dermatology and Venereology - May 10, 2013 Category: Dermatology Authors: R. Speeckaert, N. Geel Tags: Original Article Source Type: research
Photodynamic therapy for skin rejuvenation: treatment options – results of a consensus conference of an expert group for aesthetic photodynamic therapy
Summary
In addition to providing effective treatment for non‐melanoma skin cancers or their precursors, photodynamic therapy (PDT) has also attracted considerable attention for its use on aesthetic dermatology. In a first consensus publication the mechanisms of action of its photorejuvenation effects and recent studies were presented; in this paper treatment protocols for the different anatomical regions exposed to chronic sun damage like face, neck, décolleté and the back of the hands are given and suitable procedures for pre‐ and after‐care are discussed. (Source: JDDG)
Source: JDDG - May 10, 2013 Category: Dermatology Authors: Rolf‐Markus Szeimies, Stephan Lischner, Wolfgang Philipp‐Dormston, Thorsten Walker, Dagmar Hiepe‐Wegener, Konstantin Feise, Maurizio Podda, Welf Prager, Elisabeth Kohl, Sigrid Karrer Tags: Review Source Type: research
Mutation Responsible For Port-Wine Birthmarks And Sturge-Weber Syndrome Identified
Researchers have identified the genetic mutation that occurs before birth responsible for the development of Sturge-Weber syndrome and port-wine birthmarks. Pinpointing the genetic cause behind this rare disorder and a common birthmark has been described by experts as "a major breakthrough". The study, published in the New England Journal of Medicine, explains the mutations responsible for Sturge-Weber syndrome and port-wine birthmarks, which could pave the way for future treatment options. Co-senior study author, Anne Comi, M.D... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 10, 2013 Category: Consumer Health News Tags: Dermatology Source Type: news
Dog DNA May Yield Clues to Human Eczema
Title: Dog DNA May Yield Clues to Human EczemaCategory: Health NewsCreated: 5/10/2013 10:35:00 AMLast Editorial Review: 5/10/2013 12:00:00 AM (Source: MedicineNet Skin General)
Source: MedicineNet Skin General - May 10, 2013 Category: Dermatology Source Type: news
Critical role of the adhesion receptor DNAX accessory molecule-1 (DNAM-1) in the development of inflammation-driven dermal fibrosis in a mouse model of systemic sclerosis
Conclusions
An inactivation gene strategy showed that DNAM-1 exerts profibrotic effects by controlling T cell activation and cytokine release. A molecular targeted strategy confirmed that DNAM-1 neutralising mAb has potent antifibrotic properties, supporting the hypothesis that inhibition of DNAM-1 might be a promising new approach for the treatment of SSc and potentially other related fibrotic diseases. (Source: Annals of the Rheumatic Diseases)
Source: Annals of the Rheumatic Diseases - May 10, 2013 Category: Rheumatology Authors: Avouac, J., Elhai, M., Tomcik, M., Ruiz, B., Friese, M., Piedavent, M., Colonna, M., Bernhardt, G., Kahan, A., Chiocchia, G., Distler, J. H. W., Allanore, Y. Tags: Genetics, Immunology (including allergy), Connective tissue disease Basic and translational research Source Type: research
Dnase1l3 mutations in hypocomplementemic urticarial vasculitis syndrome
Conclusion: These results show that HUVS is caused by mutations in DNASE1L3, encoding an endonuclease, which has been previously associated with SLE. © 2013 American College of Rheumatology. (Source: Arthritis and Rheumatism)
Source: Arthritis and Rheumatism - May 10, 2013 Category: Rheumatology Authors: Z.Birsin Ozcakar, Joseph Foster, Oscar Diaz‐Horta, Ozgur Kasapcopur, Yao‐Shan Fan, Fatos Yalcinkaya, Mustafa Tekin Tags: Full Length Source Type: research
Histochemical analysis of gags in altered tendon: a means to evaluate the degree of pathology
Conclusion
This study underscores the importance of excessive GAGs in relation to tendon pain and function. Accurate GAG assessment would represent a help in establishing a reliable diagnostic of patellar tendinopathy as a complement of the Visa score. This knowledge may be useful in stimulating the development of more sensitive imaging modalities capable of detecting early changes in the composition of tendon extracellular matrix. (Source: British Journal of Sports Medicine)
Source: British Journal of Sports Medicine - May 10, 2013 Category: Sports Medicine Authors: Attia, M., Carpentier, G., Etienne, S., Thierart, S., Scott, A., Oystein, L., Papy-Garcia, D., Tassoni, M. C., Martelly, I. Tags: Trauma, Injury Abstracts from the 2nd International Scientific Tendinopathy Symposium (Vancouver, 2012) Source Type: research
Early pathological remodelling events, actors and regulators in overused supraspinatus tendon
Discussion
This is the first report which shows specific GAGs (CS, DS, HS), together with PGs (decorin, versican, aggrecan), proteins alterations and localisation, complete with activation of specific MMPs and cytokines in early tendon overuse. These anabolic and catabolic alterations may temporarily interfere with the tendon's tensile load-bearing capacity, which could lead to more deleterious damage. Anticipated detection of these early events, some of which may be reversible, could help to develop injury prevention strategies. (Source: British Journal of Sports Medicine)
Source: British Journal of Sports Medicine - May 10, 2013 Category: Sports Medicine Authors: Attia, M., Scott, A., Menashi, S., Papy-Garcia, D., Martelly, I., Tassoni, M. C. Tags: Drugs: musculoskeletal and joint diseases, Health education, Injury Abstracts from the 2nd International Scientific Tendinopathy Symposium (Vancouver, 2012) Source Type: research
Improvements in patient-reported outcomes with apremilast, an oral phosphodiesterase 4 inhibitor, in the treatment of moderate to severe psoriasis: results from a phase IIb randomized, controlled study
Background:
Apremilast, a specific inhibitor of phosphodiesterase 4, modulates pro-inflammatory and anti-inflammatory cytokine production.Objectives: Apremilast's effect on patient-reported outcomes (PROs) in patients with moderate to severe psoriasis was evaluated in a phase IIb randomized controlled trial (NCT00773734).
Methods:
In this 16-week, placebo-controlled study, 352 patients with moderate to severe plaque psoriasis received placebo or apremilast (10, 20, or 30 mg BID). PROs included Dermatology Life Quality Index (DLQI), pruritus visual analog scale (VAS), and Short-Form Health Survey (SF-36) to assess health-re...
Source: Health and Quality of Life Outcomes - May 10, 2013 Category: Global & Universal Authors: Vibeke StrandDavid FiorentinoChiaChi HuRobert DayRandall StevensKim Papp Source Type: research
A burst of ABC genes in the genome of the polyphagous spider mite Tetranychus urticae
Conclusions:
In this study we present the first comprehensive analysis of ABC genes in a polyphagous arthropod herbivore. We demonstrate that the broad plant host range and high levels of pesticide resistance in T. urticae are associated with lineage-specific expansions of ABC genes, many of which respond transcriptionally to xenobiotic exposure. This ABC catalogue will serve as a basis for future biochemical and toxicological studies. Obtaining functional evidence that these ABC subfamilies contribute to xenobiotic tolerance should be the priority of future research. (Source: BMC Genomics - Latest articles)
Source: BMC Genomics - Latest articles - May 10, 2013 Category: Genetics & Stem Cells Authors: Wannes DermauwEdward OsborneRichard ClarkMiodrag Grbi¿Luc TirryThomas Van Leeuwen Source Type: research
Platelet-derived growth factor alpha and beta receptors have overlapping functional activities towards fibroblasts
Conclusions:
PDGFRalpha and PDGFRbeta neutralising antibodies can be a useful tool in studying PDGFR isoform-specific cellular events. (Source: Fibrogenesis and Tissue Repair)
Source: Fibrogenesis and Tissue Repair - May 10, 2013 Category: Biomedical Science Authors: Johanna DonovanXu ShiwenJill NormanDavid Abraham Source Type: research
Sodium thiosulfate in the treatment of non‐uremic calciphylaxis
We describe a case of non‐uremic calciphylaxis in a patient with normal renal and parathyroid function who had complete resolution of disease after treatment with STS, and we review similar cases in the published work. Based on the successful outcomes detailed in this case series, STS appears to be an effective therapy for non‐uremic calciphylaxis. (Source: The Journal of Dermatology)
Source: The Journal of Dermatology - May 10, 2013 Category: Dermatology Authors: Matthew S. Ning, Kathryn M. Dahir, Emily H. Castellanos, Laura Y. McGirt Tags: Case Report Source Type: research
Association between MEFV gene mutations and recurrent aphthous stomatitis in a cohort of Turkish patients
Abstract
Recurrent aphthous stomatitis (RAS) has a multifactorial etiopathogenesis, an interaction between predisposing factors and/or systemic conditions and immunological components in genetically predisposed subjects. The Mediterranean fever (MEFV) gene has already been identified as being responsible for familial Mediterranean fever. Because the association between MEFV gene mutations and Behçet's disease has been reported before in several studies, we considered that the role of MEFV gene mutations should be studied in patients with RAS, because of the clinical similarities of both diseases. The aim of this study was...
Source: The Journal of Dermatology - May 10, 2013 Category: Dermatology Authors: Göknur Kalkan, Serbulent Yigit, Nevin Karakus, Yalçın Baş, Günseli Ş. Pancar, İlknur Balta Tags: Original Article Source Type: research
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma
Abstract
Focal palmoplantar keratoderma (PPK) with severe pain is a hallmark of pachyonychia congenita, a rare autosomal dominant disorder involving PPK and hypertrophic nail dystrophy. Some families present focal PPK with either minimal or no nail changes. Dominant‐negative mutations in any of the four identified keratin genes, KRT6A, KRT6B, KRT16 or KRT17, lead to pachyonychia congenita. However, the majority of families with focal PPK showing minimal or no nail changes do not harbor mutations in these genes. Recently, mutations of KRT6C were identified in families with focal PPK alone. Here, we report a 26‐year‐ol...
Source: The Journal of Dermatology - May 10, 2013 Category: Dermatology Authors: Akiharu Kubo, Yuiko Oura, Takashige Hirano, Yumi Aoyama, Showbu Sato, Kaori Nakamura, Yujiro Takae, Masayuki Amagai Tags: Case Report Source Type: research

