Challenges in Differential Diagnosis in Hailey-Hailey Disease
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Date
2021
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Rīgas Stradiņa universitāte
Rīga Stradiņš University
Rīga Stradiņš University
Abstract
KOPSAVILKUMS
Ievads: Heilija-Heilija slimība, kas pazīstama arī kā labdabīgs ģimenes pemfigus, ir reta ģenētiska pūslīšu ādas slimība ar hronisku recidivējoši remitējošu gaitu. Slimība var būtiski ietekmēt pacienta dzīves kvalitāti, un to bieži ir grūti diagnosticēt un ārstēt. Diagnostikas problēmu dēļ Heilija-Heilija slimība bieži tiek nepareizi diagnosticēta vai nav diagnosticēta. Tas noved pie pārmērīgas, nepietiekamas un nekorektas skarto indivīdu ārstēšanas.
Mērķis: Sistemātiski pārskatīt pašreizējo literatūru. Analizēt potenciālās Heilija-Heilija slimības diferenciāldiagnozes un veidot uz pierādījumiem balstītu diagnostikas pieeju.
Metodoloģija: Sistemātiska literatūras meklēšana par Heilija-Heilija slimības gadījumiem tika veikta, izmantojot PubMed. Lai identificētu iespējamās diferenciāldiagnozes, tika analizēta visa angļu literatūra pēdējo desmit gadu laikā. Lai labāk izprastu epidemioloģiju, klīnisko ainu, patofizioloģiju, patohistoloģiskās izmaiņas un iespējamos diferenciāldiagnostiskos stāvokļus, tika pārskatīti papildu avoti no šādām datu bāzēm: ScienceDirect, Wiley un BMJ.
Rezultāti: Meklēšanas stratēģija parādīja vairāk nekā 190 piemērotus rakstus; tika identificētas 33 iespējamās HHD imitācijas, tostarp iedzimtas, iekaisīgas, neoplastiskas, infekcijas, ar narkotikām saistītas un idiopātiskas slimības.
Secinājumi: Šis sistemātiskais literatūras pārskats sniedz visaptverošu pārskatu par Heilija-Heilija slimības diferenciāldiagnozi. Turklāt ir apspriests iespējamais diagnostikas algoritms, ieskaitot invazīvas un neinvazīvas diagnostikas metodes. Neskatoties uz standartizētas ārstēšanas trūkumu, pareiza diagnoze samazinās nepareizu ārstēšanu un medicīniskās komplikācijas.
ABSTRACT Background: Hailey-Hailey disease, also known as Benign familial pemphigus, is a rare genetic blistering skin disorder with a chronic relapsing-remitting course. The disease may significantly impact a patient’s quality of life and is often difficult to diagnose and treat. Due to diagnostic challenges, Hailey-Hailey disease often goes misdiagnosed or undiagnosed, leading to overtreatment, undertreatment, and mistreatment of affected individuals. Aim: To systematically review the current literature on potential differential diagnoses of Hailey-Hailey disease and to guide an evidence-based diagnostic approach. Methodology: A systematic literature search for case reports associated with Hailey Hailey disease was performed using PubMed. To identify potential differential diagnosis, all the English literature from the past ten years were analyzed. To better understand the epidemiology, clinical presentation, pathophysiology, histology, and possible differential conditions, additional sources from the following databases were reviewed: ScienceDirect, Wiley, and BMJ. Results: The search strategy yielded more than 190 eligible articles; 33 potential mimics of HHD could be identified, including inherited, inflammatory, neoplastic, infectious, drug-related, and idiopathic disorders. Conclusion: This systematic literature review gives a comprehensive overview of the broad differential diagnosis of Hailey-Hailey disease. In addition, a possible diagnostic algorithm, including invasive and non-invasive diagnostic methods, has been outlined. Despite the lack of standardized treatment, a correct diagnosis will decrease incorrect treatment and medical complications.
ABSTRACT Background: Hailey-Hailey disease, also known as Benign familial pemphigus, is a rare genetic blistering skin disorder with a chronic relapsing-remitting course. The disease may significantly impact a patient’s quality of life and is often difficult to diagnose and treat. Due to diagnostic challenges, Hailey-Hailey disease often goes misdiagnosed or undiagnosed, leading to overtreatment, undertreatment, and mistreatment of affected individuals. Aim: To systematically review the current literature on potential differential diagnoses of Hailey-Hailey disease and to guide an evidence-based diagnostic approach. Methodology: A systematic literature search for case reports associated with Hailey Hailey disease was performed using PubMed. To identify potential differential diagnosis, all the English literature from the past ten years were analyzed. To better understand the epidemiology, clinical presentation, pathophysiology, histology, and possible differential conditions, additional sources from the following databases were reviewed: ScienceDirect, Wiley, and BMJ. Results: The search strategy yielded more than 190 eligible articles; 33 potential mimics of HHD could be identified, including inherited, inflammatory, neoplastic, infectious, drug-related, and idiopathic disorders. Conclusion: This systematic literature review gives a comprehensive overview of the broad differential diagnosis of Hailey-Hailey disease. In addition, a possible diagnostic algorithm, including invasive and non-invasive diagnostic methods, has been outlined. Despite the lack of standardized treatment, a correct diagnosis will decrease incorrect treatment and medical complications.
Description
Medicīna
Medicine
Veselības aprūpe
Health Care
Medicine
Veselības aprūpe
Health Care
Keywords
Atslēgas vārdi: Heilija-Heilija slimības ziņojums, labdabīga ģimenes pemfigus gadījuma pārskats, ādas akantolītiskie traucējumi, Heilija-Heilija slimības diferenciāldiagnoze, labdabīga ģimenes pemfigusa diferenciāldiagnoze, Keywords: Hailey Hailey disease case report, Benign familial pemphigus case report, Acantholytic skin disorders, Hailey Hailey disease differential diagnosis, and Benign familial pemphigus differential diagnosis