DOCSLIB.ORG

Classification Meeting 2014

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Classification Meeting 2014 REVIEW Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification Jo-David Fine, MD, MPH, FRCP,a,b Leena Bruckner-Tuderman, MD, PhD,c RobinA.J.Eady,DSc,FRCP,FMedSci,d EugeneA.Bauer,MD,e Johann W. Bauer, MD,f Cristina Has, MD,c Adrian Heagerty, MD, FRCP,g Helmut Hintner, MD,f Alain Hovnanian, MD, PhD,h MarcelF.Jonkman,MD,PhD,i IreneLeigh,CBE,DSc,FRCP,FRSE,FMedSci,j M. Peter Marinkovich, MD,e,k Anna E. Martinez, FRCPCH,l John A. McGrath, MD, FRCP, FMedSci,d Jemima E. Mellerio, MD, FRCP,d,l Celia Moss, DM, FRCP, MRCPCH,m DedeeF.Murrell,MD,FACD,n HiroshiShimizu,MD,PhD,o JouniUitto,MD,PhD,p David Woodley, MD,q and Giovanna Zambruno, MDr Nashville, Tennessee; Freiburg, Germany; London and Birmingham, England; Stanford, Palo Alto, and Los Angeles, California; Salzburg, Austria; Toulouse, France; Groningen, The Netherlands; Dundee, Scotland; Sydney, Australia; Sapporo, Japan; Philadelphia, Pennsylvania; and Rome, Italy Background: Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. Objective: We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular. Results: In this latest consensus report, we introduce a new approach to classification (‘‘onion skinning’’) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, andewhen possibleespecific mutation(s) and their location(s). Limitations: This classification scheme critically takes into account all published data through June 2013. Further modifications are likely in the future, as more is learned about this group of diseases. Conclusion: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and molecular features of each EB subtype, and has sufficient flexibility incorporated in its structure to permit further modifications in the future. ( J Am Acad Dermatol 2014;70:1103-26.) Key words: classification; diagnosis; electron microscopy; epidermolysis bullosa; gene; genetics; monoclonal antibodies. From the Vanderbilt University School of Medicine, Nashvillea; Funding sources: None. (Although the authors have acknowl- National Epidermolysis Bullosa Registry, Nashvilleb; University edged in other unrelated publications their extramural support Medical Center Freiburgc; St John’s Institute of Dermatology, for their own epidermolysis bullosaerelated research pro- King’s College London and Guy’s and St Thomas’ Hospital grams, none of these has provided funding for the Consensus National Health Service Foundation Trustd; Stanford University Conference or the generation of this report.) School of Medicinee; Paracelsus Private Medical University, Conflicts of interest: None declared. Salzburgf; Heart of England Foundation Trust, Birminghamg; Accepted for publication January 25, 2014. INSERM and Department of Genetics, Toulouseh; University Reprints not available from the authors. Medical Center Groningen, University of Groningeni; University Correspondence to: Jo-David Fine, MD, MPH, FRCP, Division of of Dundeej; Dermatology Service, Palo Alto Veterans Affairs Dermatology, c/o Vanderbilt Health One Hundred Oaks, Medical Centerk; Great Ormond Street Hospital for Children Dermatology Suite 26300, 719 Thompson Ln, Nashville, TN National Health Service Foundation Trust, Londonl; Birmingham 37204. E-mail: [email protected]. Children’s Hospital and University of Birminghamm; St George Published online March 31, 2014. Hospital and University of New South Wales, Sydneyn; Hok- 0190-9622/$36.00 kaido University School of Medicine, Sapporoo; Thomas Jeffer- Ó 2014 by the American Academy of Dermatology, Inc. son University, Philadelphiap; University of Southern California, http://dx.doi.org/10.1016/j.jaad.2014.01.903 Los Angelesq; and Istituto Dermopatico dell’ Immacolata, IDI-IRCCS, Rome.r 1103 1104 Fine et al JAM ACAD DERMATOL JUNE 2014 Each of the many subtypes of inherited epider- EB. JEB includes all subtypes of EB in which blisters molysis bullosa (EB) is currently defined by its mode develop within the mid portion or junction, the so- of transmission and a combination of phenotypic, called lamina lucida, of the skin basement membrane ultrastructural, immunohistochemical, and molecu- zone (BMZ). DEB (in the past referred to occasion- lar findings.1 Much has been learned about the ally as ‘‘dermolytic’’ EB) includes all EB subtypes in natural history and etiopathogenesis of EB since which blistering occurs within the uppermost dermis this disease was first formally classified, based on (ie, just beneath the lamina densa of the skin BMZ). electron microscopic fea- Finally, Kindler syndrome, tures described in 1962,2 as which was added to the EB CAPSULE SUMMARY a result of the application of classification in 2008, de- epidemiology, cell biology, scribes a specific entity that d Many new genes and clinical phenotypes immunology, and molecular is characterized by the pres- of inherited epidermolysis bullosa have biology to the study of large ence of clinical phenotypic been characterized since the last numbers of clinically well- features unique among EB international consensus meeting on characterized patients. (most notably photosensi- diagnosis and classification was Four international con- tivity) and blistering that published in 2008. sensus meetings on its diag- arises in multiple levels nosis and classification have d A new classification system (‘‘onion skin’’ within and/or beneath the been held since 1988, the last approach) has been created that BMZ, rather than within a in Vienna, Austria, in 2007.1 sequentially takes into account the discrete plane, as occurs in Since then, several new phe- epidermolysis bullosa type, mode of all other EB types. notypes and causative genes inheritance, phenotype, have been identified. In June immunofluorescence antigen mapping DIAGNOSTIC TESTING 2013 a number of leading findings, and mutation(s) present in each IN EB EB experts met in London, patient. Diagnostic testing and United Kingdom, to review d Detailed summaries on the typical classification in EB begin the collective data on this findings in each recognized with the identification of the disease and to reformulate epidermolysis bullosa subtype are level of skin cleavage via the means whereby patients provided for use by clinicians and immunofluorescence anti- with EB can be subclassified, researchers. gen mapping (IFM) and/or with increasing focus on the transmission electron micro- molecular origin of each sub- scopy on preferably newly type whenever possible. induced blisters. The use of monoclonal antibodies directed against components of the skin BMZ and MAJOR EB TYPES epidermal antigens can further facilitate subclassifi- We recommend that the currently used names for cation, because skin samples from most of the EB the 4 major EB typeseEB simplex (EBS), junctional EB subtypes vary in the intensity of antigen staining (if (JEB), dystrophic EB (DEB), and Kindlerebe retained, even present) of specific structural proteins, corre- so as to maintain continuity with decades of clinical sponding to the presence of a mutation within its and basic scientific literature and to prevent any associated gene. Details of the immunohistochem- confusion or ambiguity arising among patients; EB ical and ultrastructural findings in each of the major support organizations; medical, nursing, and other EB subtypes may be found in our last consensus clinical colleagues; governmental agencies; and report, published in 2008.1 third-party insurers. Changing those names would Once the level of skin cleavage and the antigen add little or no value and might prove counterpro- staining profile have been determined, pursuit of ductive to the diagnosis and care of these patients. mutational analysis is recommended, if available and EBS encompasses all subtypes of EB having affordable, because this will permit the most precise mechanical fragility and blistering confined to the subclassification. The latter information will become epidermis. When the classification system was last critical for genetic counseling in the future, if and revised, EBS was further separated into suprabasal when molecular treatments become a reality. For and basal subgroups, based on the histopathologic now, molecular fingerprinting provides the most site of cleavage within the epidermis.1 In the past precise way of ascertaining mode of transmission, EBS was referred to by some as ‘‘epidermolytic’’ enabling the clinician to accurately perform genetic although this term is inaccurate, because cellular counseling. Reliance solely on mutational findings lysis is not a primary feature of any type or subtype of for accurate clinical prognostication, however, must JAM ACAD DERMATOL Fine et al 1105 VOLUME 70, NUMBER 6 kindred, because of the influence of environmental Abbreviations used: and/or modifying genetic factors. BMZ: basement membrane zone BP: bullous pemphigoid DDEB: dominant dystrophic epidermolysis ‘‘ONION SKIN’’ APPROACH TO bullosa DEB: dystrophic
Load more

Recommended publications
  • Idiopathic Spiny Keratoderma: a Report of Two Cases and Literature Review
    Idiopathic Spiny Keratoderma: A Report of Two Cases and Literature Review Jessica Schweitzer, DO,* Matthew Koehler, DO,** David Horowitz, DO*** *Intern, Largo Medical Center, Largo, FL **Dermatology Resident, Third Year, College Medical Center/Western University, Long Beach, CA ***Dermatology Residency Program Director, College Medical Center/Western University, Long Beach, CA Abstract Spiny keratoderma is a rare and likely underreported condition that presents with punctate hyperkeratotic growths localized to the palms and soles. We present two cases of clinically diagnosed spiny keratoderma. Although the lesions were asymptomatic, patients are at risk of an underlying internal malignancy with this condition, so diagnosis is crucial. Neither men were seeking treatment for the lesions when they were discovered, suggesting that this condition may be much more common than reported. Patients with histories of manual labor, increased UV exposure, and non-melanoma skin cancer (NMSC) may also be at higher risk for developing spiny keratoderma.1 The epidemiology, histopathologic features, differential diagnosis, and current treatments for spiny keratoderma are reviewed. Introduction Case 2 enthusiast for his entire life, spending significant Spiny keratoderma is a rare palmoplantar A 67-year-old Caucasian male presented with a time using his hands to maintain and fire his keratoderma that presents with keratotic, pinpoint one-year history of insidiously growing, pinpoint weapons and many hours outside without sun papules on the palms and soles. There are both hyperkeratotic papules projecting from his palms protection. The patient was referred back to his hereditary and acquired forms. When found, bilaterally (Figures 4-5). He presented to the clinic primary care physician for internal evaluation.
    [Show full text]
  • Ectodermal Dysplasias: a New Clinical-Genetic Classification
    J Med Genet 2001;38:579–585 579 Ectodermal dysplasias: a new clinical-genetic J Med Genet: first published as 10.1136/jmg.38.9.579 on 1 September 2001. Downloaded from classification Manuela Priolo, Carmelo Laganà Abstract many case reports and personal communica- The ectodermal dysplasias (EDs) are a tions in their listing of EDs, as well as large and complex nosological group of conditions traditionally classified under other diseases, first described by Thurnam in headings, for example dyskeratosis congenita11 1848. In the last 10 years more than 170 and keratitis-ichthyosis-deafness (KID) syn- diVerent pathological clinical conditions drome12 (poikiloderma and immune defect have been recognised and defined as EDs, diseases and erythrokeratodermas, respec- all sharing in common anomalies of the tively). Further, they did not appear to hair, teeth, nails, and sweat glands. Many consider variability of expression and may are associated with anomalies in other have reported, as distinct diseases, conditions organs and systems and, in some condi- that reflect variable expression of the same tions, with mental retardation. pathological entity. Moreover, they included The anomalies aVecting the epidermis pathological conditions which, in our opinion, and epidermal appendages are extremely do not strictly fulfil the diagnostic criteria for variable and clinical overlap is present EDs, such as conditions with secondary among the majority of EDs. Most EDs are involvement of epidermal derivatives rather defined by particular clinical signs (for than a primary defect. We abandoned the 1-2- example, eyelid adhesion in AEC syn- 3-4 designation of EDs, because we believe drome, ectrodactyly in EEC).
    [Show full text]
  • Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas
    Palmoplantar Keratoderma With Progressive Gingivitis and Recurrent Pyodermas Tyler A. Moss, DO; Anne P. Spillane, MD; Sam F. Almquist, MD; Patrick E. McCleskey, MD; Oliver J. Wisco, DO Practice Points Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive inherited transgredient palmoplantar kerato- derma (PPK) that is associated with gingivitis and recurrent pyodermas. The symptoms associated with PLS are thought to be due to cathepsin C gene, CTSC, mutations. CTSC is expressed in epithelial regions commonly affected by PLS and also plays a role in the activation of immune and inflammatory responses. Papillon-Lefèvre syndrome must be differentiated from other conditions causing PPK, such as Haim-Munk syndrome, Greither syndrome, mal de Meleda, Clouston syndrome, Vohwinkel syndrome, and Olmsted syndrome. Treatment of PLS includesCUTIS keratolytics such as urea and/or salicylic acid comb ined with oral retinoids. Active gingivitis may be treated with combined use of amoxicillin and metronidazole. Papillon-Lefèvre syndrome (PLS) is a rare inher- Case Report ited palmoplantar keratoderma (PPK) that is asso- A 30-year-old woman presented to the dermatology ciated with progressive gingivitis and recurrent clinic with erythematous hyperkeratotic plaques on pyodermas.Do We present a caseNot exhibiting classic the palmsCopy and soles. The plaques extended onto features of this autosomal-recessive condition the dorsal aspects of the fingers, toes, hands, and and review the current understanding of its patho- feet (Figures 1 and 2). The patient had psoriasiform physiology, diagnosis, and treatment. Addition- plaques on the extensor surfaces of the knees and ally, a review of pertinent transgredient PPKs is elbows (Figure 3) along with a history of slow- undertaken, with key and distinguishing features progressing gingivitis and periodontal disease that of each syndrome highlighted.
    [Show full text]
  • Pediatric and Adolescent Dermatology
    Pediatric and adolescent dermatology Management and referral guidelines ICD-10 guide • Acne: L70.0 acne vulgaris; L70.1 acne conglobata; • Molluscum contagiosum: B08.1 L70.4 infantile acne; L70.5 acne excoriae; L70.8 • Nevi (moles): Start with D22 and rest depends other acne; or L70.9 acne unspecified on site • Alopecia areata: L63 alopecia; L63.0 alopecia • Onychomycosis (nail fungus): B35.1 (capitis) totalis; L63.1 alopecia universalis; L63.8 other alopecia areata; or L63.9 alopecia areata • Psoriasis: L40.0 plaque; L40.1 generalized unspecified pustular psoriasis; L40.3 palmoplantar pustulosis; L40.4 guttate; L40.54 psoriatic juvenile • Atopic dermatitis (eczema): L20.82 flexural; arthropathy; L40.8 other psoriasis; or L40.9 L20.83 infantile; L20.89 other atopic dermatitis; or psoriasis unspecified L20.9 atopic dermatitis unspecified • Scabies: B86 • Hemangioma of infancy: D18 hemangioma and lymphangioma any site; D18.0 hemangioma; • Seborrheic dermatitis: L21.0 capitis; L21.1 infantile; D18.00 hemangioma unspecified site; D18.01 L21.8 other seborrheic dermatitis; or L21.9 hemangioma of skin and subcutaneous tissue; seborrheic dermatitis unspecified D18.02 hemangioma of intracranial structures; • Tinea capitis: B35.0 D18.03 hemangioma of intraabdominal structures; or D18.09 hemangioma of other sites • Tinea versicolor: B36.0 • Hyperhidrosis: R61 generalized hyperhidrosis; • Vitiligo: L80 L74.5 focal hyperhidrosis; L74.51 primary focal • Warts: B07.0 verruca plantaris; B07.8 verruca hyperhidrosis, rest depends on site; L74.52 vulgaris (common warts); B07.9 viral wart secondary focal hyperhidrosis unspecified; or A63.0 anogenital warts • Keratosis pilaris: L85.8 other specified epidermal thickening 1 Acne Treatment basics • Tretinoin 0.025% or 0.05% cream • Education: Medications often take weeks to work AND and the patient’s skin may get “worse” (dry and red) • Clindamycin-benzoyl peroxide 1%-5% gel in the before it gets better.
    [Show full text]
  • Download PDF (Inglês)
    Revista6Vol89ingles_Layout 1 10/10/14 11:08 AM Página 1003 WHAT IS YOUR DIAGNOSIS? 1003 s Case for diagnosis* João Roberto Antonio1 Larissa Cannizza Pacheco de Lucca1 Mariana Perez Borim1 Natália Cristina Pires Rossi1 Guilherme Bueno de Oliveira1 DOI: http://dx.doi.org/10.1590/abd1806-4841.20143156 CASE REPORT A 60-year-old woman reports a 5-year history of violaceous and intensely pruritic lesions on the dorsum and scalp, associated with a 2-year history of hair loss. She also reports decreased hair growth in the axillary and inguinal regions in the same period. Dermatological examination shows small, scaly, erythematous-violaceous, flat papules on the dorsal region; multifocal scarring alopecia areas, with smooth, bright and atrophic surface; discrete hair rarefaction in the axillary and inguinal regions; presence of longitu- FIGURE 2: dinal grooves and some depressions on the surface of Perifollicular the nail plate; no oral lesions (Figures 1 and 2). The erythema with desquamation at histopathology of the dorsal lesion is shown in figure the vertex of the 3A and that of the scalp is shown in figure 3B. scalp; cicatricial The treatment was performed using high- alopecia and potency corticoids and resulted, after three months, in smooth, bright and atrophic surface an improvement of pruritus and a slight lightening of the lesions. A FIGURE 1: B Cutaneous, erythematous- FIGURE 3: A. HE 200x. Interface dermatitis with lichenoid pattern purpuric lesions associated with dermo-epidermic detachment and lymphocytic on the infiltrate in band-like pattern in the upper dermis. B. HE 200x. dorsal region Detail of partially destroyed follicle, with perifollicular fibrosis and perivascular lymphocytic infiltrate Received on 19.09.2013.
    [Show full text]
  • Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478.
    [Show full text]
  • Palmoplantar Keratoderma: Rare Case Report
    Case Report Journal of Volume 12:4, 2021 Cytology & Histology ISSN: 2157-7099 Open Access Palmoplantar Keratoderma: Rare Case Report Dr. Ayushi Bansal1, Dr. Hemlata Munde2*, Dr. Munish Gupta3 and Dr. Santosh Munde4 1Senior Resident, Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 2Professor and Head of Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 3Assistant Professor, Department of medicine, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 4Professor and Head of Department of Orthopaedics, Kalpana Chawla Government Medical College, Karnal, Haryana, India. Abstract Palmoplantar keratodermas(PPK) are group of cornification disorders characterized by epidermal hyperkeratotic lesions involving the palms and soles. A 50years old healthy male, presented with history of multiple punctate hyperkeratotic papules since last 5 years. Keywords: Palmoplantar keratoderma • Punctate •Hyperkeratotic papules Abbreviations: PPK: Palmoplantar keratodermas • PUVA: Psoralen plus Ultraviolet A • PPPK: Punctate Palmoplantar keratodermas • USG: Ultrasound Sonography• VRDL: Venereal Disease Research Laboratory Test • ELISA: Enzyme-Linked Immunosorbent Assay Introduction Mucosal surfaces were not involved. Biopsy sample was received. On histopathological examination of biopsy revealed massive hyperkeratosis over sharply limited area with depression of malphigian layer below general Palmoplantar keratoderma (PPK), clinically and genetically comprises level of epidermis. There was increase in the thickness of granular layer. The of heterogenous group of disorders characterised by hyperkeratosis of dermis was free of inflammation. Compilation of clinical and laboratory data palms and soles [1]. It can be hereditary or acquired. Hereditary PPK can helped to conclude the diagnosis of Palmoplantar Keratoderma-Punctate be further divided into three major categories: diffuse, focal, and punctate type.
    [Show full text]
  • Cosmetic Center May Newsletter
    Cosmetic Center May Newsletter DERMATOLOGY ASSOCIATES Keratosis Pilaris May specials “KP” Very common 10 % off Sunscreen skin condition characterized by 10% off Glytone KP Products tiny, hard 20% off Laser Hair Removal bumps. Glytone and Neostrata Peels– Purchase a package of 6 and get 1 Free It can be found on the outer Purchase a Facial and Receive a Free Skin Care Starter Kit arms, thighs, and sometimes Product of the Month Procedure of the Month the buttocks Tilley Hats Facials It is caused by the buildup of Lifetime Warranty Schedule an appointment today for dead skin Waterproof & Float an hour of pampering and (keratin) around relaxation. We will use products Many Different Sizes, Styles, and the hair follicle. suitable for your skin type and Colors to Choose From KP generally condition. gets worse in the SPF 50 winter and often clears in the summer. KP is self-limiting and disappears with age. KP can be treated with products. Mother’s Day is May 10 We have several products in the Relaxing Facials & Gift Certificates make great gifts! Cosmetic Center Mini Facials for the month of May only $45 to treat and help You can also shop ONLINE at Kingsportderm.com and have the items shipped. Melanoma Awareness Month More than 1 million cases of skin cancer are diagnosed in the United States each year, making skin cancer the most common cancer in the United States. ABCDEs of Melanoma Approximately 62,480 cases of melanoma will be A. If you draw a line diagnosed each year, nearly 8,420 cases will lead to deaths.
    [Show full text]
  • A New Insight on Atopic Skin Diathesis: Is It Correlated with the Severity of Melasma
    A New Insight on Atopic Skin Diathesis: Is It Correlated with the Severity of Melasma Danar Wicaksono1*, Rima Mustafa2, Sri Awalia Febriana1, Kristiana Etnawati1 1 Dermatovenereology Department, Faculty of Medicine Universitas Gadjah Mada – Dr. Sardjito General Hospital, Yogyakarta-Indonesia 2 Clinical Epidemiology and Biostatistics Unit, Faculty of Medicine Universitas Gadjah Mada –Dr. Sardjito General Hospital, Yogyakarta-Indonesia Keywords: Melasma, atopic skin diathesis (ASD), MASI score, atopic dermatitis (AD) Abstract: Melasma is a macular lesion of light brown to dark on the sun-exposed area, especially on the face. Atopic Skin Diathesis (ASD) is a clinical term to describe skin atopics with previous, present or future atopic dermatitis (AD). Dennie-Morgan infraorbital folds are secondary creases in the skin below the lower eyelids with a sensitivity of 78% and a specificity of 76% to diagnose AD. Melasma skin is characterized by impaired stratum corneum integrity and a delayed barrier recovery rate. Barrier dysfunction will stimulate keratinocyte to secrete keratinocyte-derived factor, which plays role in skin pigmentation process in melasma. To analyze correlation between ASD and Melasma Area Severity Index (MASI) score in melasma patient. This study is an observational analytic study with cross sectional design. Measurement of ASD and MASI score were done in 60 subjects with melasma who went to dermatology outpatient clinic Dr. Sardjito General Hospital from July 2017 to Januari 2018. The correlation between ASD and MASI score was analyzed using Pearson correlation. The result of this study showed no significant correlation between ASD and MASI scores (r: 0.02, p: 0,85). Crude Relative Risk (RR) for Dennie-Morgan infraorbital folds and MASI score was 4 (1.01-15.87).
    [Show full text]
  • Emaciation, Congestive Heart Failure, and Systemic Amyloidosis In
    Case Report Emaciation, Congestive Heart Failure, and Systemic Amyloidosis in Severe Recessive Dystrophic Epidermolysis Bullosa: Possible Internal Complications Due to Skin-Derived Inflammatory Cytokines Derived from the Injured Skin Yoshiaki Matsushima y , Kento Mizutani y, Hiroyuki Goto y, Takehisa Nakanishi, Makoto Kondo, Koji Habe, Kenichi Isoda, Hitoshi Mizutani and Keiichi Yamanaka * Department of Dermatology, Mie University Graduate School of Medicine, Tsu, Mie 514-8507, Japan; [email protected] (Y.M.); [email protected] (K.M.); [email protected] (H.G.); [email protected] (T.N.); [email protected] (M.K.); [email protected] (K.H.); [email protected] (K.I.); [email protected] (H.M.) * Correspondence: [email protected]; Tel.: +81-59-231-5025; Fax: +81-59-231-5206 These authors contributed equally to this work. y Received: 2 August 2020; Accepted: 7 September 2020; Published: 14 September 2020 Abstract: Inherited epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by epithelial tissue fragility. Recessive dystrophic epidermolysis bullosa (RDEB) is the most severe form, characterized by the presence of blisters, erosion, and ulcer formation, leading to scarring and contraction of the limbs. RDEB is also associated with extra-cutaneous complications, including emaciation, congestive heart failure, and systemic amyloidosis. The main cause of these clinical complications is unknown; however, we hypothesized that they are caused by elevated circulating inflammatory cytokines overproduced by injured keratinocytes. We addressed this phenomenon using keratin-14 driven, caspase-1 overexpressing, transgenic (KCASP1Tg) mice in which injured keratinocytes release high levels of IL-1α and β.
    [Show full text]
  • Blueprint Genetics Ectodermal Dysplasia Panel
    Ectodermal Dysplasia Panel Test code: DE0401 Is a 25 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of ectodermal dysplasia (hidrotic or hypohidrotic) or Ellis-van Creveld syndrome. About Ectodermal Dysplasia Ectodermal Dysplasia (ED) is a group of closely related conditions of which more than 150 different syndromes have been identified. EDs affects the development or function of teeth, hair, nails and sweat glands. ED may present as isolated or as part of a syndromic disease and is commonly subtyped according to sweating ability. The clinical features of the X-linked and autosomal forms of hypohidrotic ectodermal dysplasia (HED) can be indistinguishable and many of the involved genes may lead to phenotypically distinct outcomes depending on number of defective alleles. The most common EDs are hypohidrotic ED and hydrotic ED. X-linked hypohidrotic ectodermal dysplasia (HED) is caused by EDA mutations and explain 75%-95% of familial HED and 50% of sporadic cases. HED is characterized by three cardinal features: hypotrichosis (sparse, slow-growing hair and sparse/missing eyebrows), reduced sweating and hypodontia (absence or small teeth). Reduced sweating poses risk for episodes of hyperthermia. Female carriers may have some degree of hypodontia and mild hypotrichosis. Isolated dental phenotypes have also been described. Mutations in WNT10A have been reported in up to 9% of individuals with HED and in 25% of individuals with HED who do not have defective EDA. Approximately 50% of individuals with heterozygous WNT10A mutation have HED and the most consistent clinical feature is severe oligodontia of permanent teeth.
    [Show full text]
  • Epidermolysis Bullosa (EB)
    OR Preparation for Patients with Epidermolysis Bullosa (EB) Background: Patients with EB have a mutation in their keratin or collagen genes. As a result the skin is not properly anchored and mere touch can cause the skin to slough or blister. Many different subtypes have been identified but the most common variant we see in our patient population is recessive dystrophic EB. The children appear as burn patients and are frequently wrapped in total body burn dressings. NO ADHESIVES MAY BE USED IN THESE PATIENTS. You will note the following in these children. Airway: the tissues of the lining of the mouth, tongue and esophagus are affected making eating difficult. Mouth opening is SEVERELY LIMITED and these patients are always considered difficult airways. FOI is the preferred method to intubate since we try to minimize contact with the mucosa. Digits: continued skin slough and scarring results in absence of fingernails and the fingers often fuse together. Cardiac: Over time, some children develop a cardiomyopathy. Anemia is common as is continued infections, so these children often appear to be in a high-output state. Renal: Many children develop renal failure over time. Hemotologic: Continued bleeding from wounds and poor nutrition causes anemia. Infections: These children are often colonized with MRSA in their wounds and many act as though in low-grade sepsis. You will see tachycardia and anesthetic resistance. IV access: Difficult though not as impossible as you would imagine. NO ELASTIC TOURNIQUETS! A hand tourniquet is sufficient. Alcohol wipes are not usually used. A small amount of baby shampoo on moistened gauze dabbed on and off with moist gauze may be used GI tract: Esophageal strictures are common due to sloughing and scarring of the esophagus, so patients coming in for these procedures often cannot handle their oral secretions and are drooling.
    [Show full text]