Explanipedia

Beneath the surface: delineating the subtypes of Dowling–Degos disease Open

Sheetal Kumar, Damian J. Ralser, Joerg Wenzel, Jorge Frank, Regina C. Betz · 2025

Dowling–Degos disease (DDD) is a rare, genetically heterogeneous pigmentation disorder with an autosomal dominant pattern of inheritance. While DDD shows wide clinical variability, a defining feature is reticulate hyperpigmentation, which …

Patients with alcohol use disorder clustering based on definition of alcohol withdrawal syndrome Open

Victor M. Karpyak, Ada Man‐Choi Ho, Brandon J. Coombes, Vanessa Pazdernik, Jorge Frank , et al. · 2025

Introduction Alcohol withdrawal syndrome (AWS) is among the most severe components of alcohol dependence (AD). Severe AWS, especially complicated with seizures and delirium, was a common reason for medical complications and death. The intr…

S2k‐Leitlinie Basalzellkarzinom der Haut (Aktualisierung 2023) Open

Berenice M. Lang, Panagiotis Balermpas, Andrea Bauer, Andreas Blum, Thomas Dirschka , et al. · 2024

Zusammenfassung Das Basalzellkarzinom ist der häufigste maligne Tumor der hellhäutigen Bevölkerung mit weiterhin steigender Inzidenz. Ein Update der S2k‐Leitlinie unter Beteiligung aller mit dem Krankheitsbild vertrauten Fachgesellschaften…

S2k guideline basal cell carcinoma of the skin (update 2023) Open

Berenice M. Lang, Panagiotis Balermpas, Andrea Bauer, Andreas Blum, Thomas Dirschka , et al. · 2024

Summary Basal cell carcinoma is the most common malignant tumor in the fair‐skinned population and its incidence continues to rise. An update of the S2k guideline with the participation of all specialist societies familiar with the clinica…

CD24 flags anastasis in melanoma cells Open

Martina H. Vasileva, Anette Bennemann, Karolin Zachmann, Michael P. Schön, Jorge Frank , et al. · 2024

Porphyrien – eine Übersicht Open

Hanna Lindemann, Eva Diehl-Wiesenecker, Lea Gerischer, Jorge Frank · 2024

Porphyrias are predominantly genetic metabolic disorders caused by dysregulation of specific enzymes in porphyrin-heme biosynthesis. The enzymatic dysfunction leads to formation and excretion of intermediate metabolic products in the form …

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations Open

Alrun Hotz, Regina Fölster‐Holst, Vinzenz Oji, E. Bourrat, Jorge Frank , et al. · 2024

Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations i…

German Porphyria Registry (PoReGer)–Background and Setup Open

Lea Gerischer, Mona Mainert, Nils Wohmann, Ilja Kubisch, Ulrich Stölzel , et al. · 2024

Porphyrias, as most rare diseases, are characterized by complexity and scarcity of knowledge. A national registry in one of the largest European populations that prospectively collects longitudinal clinical and laboratory data are an impor…

703 Baseline audiologic screening for children with cystic fibrosis on ototoxic medications Open

E. Dudley, D. Willey-Courand, L. Coburn, A. Elliott, Marie C. Earley , et al. · 2023

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss Open

Nicole Cesarato, Agnes Schwieger‐Briel, Yasmina Gossmann, Sabrina K. Henne, Kathrin Hillmann , et al. · 2023

Background Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown. Objective…

Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis Open

Sheetal Kumar, Jonas Hausen, Sugirthan Sivalingam, Aytaj Humbatova, Andreas Buneß , et al. · 2023

Dowling-Degos disease (DDD) is a rare autosomal-dominant hyperpigmentation disorder caused by mutations in KRT5, POFUT1, POGLUT1 and PSENEN. Our results suggest that dysfunctional Notch signalling in melanocytes plays a key role in DDD pat…

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease Open

Sheetal Kumar, Oleg Borisov, Carlo Maj, Damian J. Ralser, Aytaj Humbatova , et al. · 2023

Dowling-Degos disease (DDD; MIM 179850, 615327, 615696, and 613736) is a rare, autosomal dominant skin pigmentation disorder ( Degos and Ossipowski, 1954 Degos R. Ossipowski B. Dermatose pigmentaire ŕeticulée des plis (discussion de l'acan…

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study Open

Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch , et al. · 2023

Background Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, …

Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten Open

Jorge Frank, Cristina Has, Regina C. Betz · 2023

Zusammenfassung Genodermatosen sind monogen vererbte Erkrankungen, die sich entweder ausschließlich mit Symptomen an der Haut manifestieren oder im Rahmen eines assoziierten Syndroms auch andere Organe betreffen können. In den zurückliegen…

Selected genodermatoses – Status quo and future prospects Open

Jorge Frank, Cristina Has, Regina C. Betz · 2023

Summary Genodermatoses are monogenetic disorders, which may manifest with symptoms either exclusively on the skin or also involve other organs in the context of an associated syndrome. Over the past 30 years, numerous hereditary hair, tumo…

Diagnostic spectrum and therapeutic efficiency in teledermatology–Results of the largest cohort study to date Open

Hanna Lindemann, Tim Bonetzki, Jorge Frank · 2023

Timely and comprehensive dermatological care is a major challenge. Digitized medical consultation offers a possibility to overcome this problem. Here, we studied the diagnostic spectrum and treatment success in teledermatology in the large…

Detect Acute Porphyrias in Emergency Departments (DePorED) – A pilot study Open

Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch , et al. · 2023

Background Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, …

Subzelluläre Kompartimentierung von STIM1 zur Unterscheidung des Morbus Darier vom Morbus Hailey‐Hailey Open

Hedwig Stanisz, Christina Mitteldorf, Helena Janning, Anette Bennemann, Michael P. Schön , et al. · 2022

Zusammenfassung Hintergrund Der Morbus Darier (MD) und Morbus Hailey‐Hailey (MHH) sind seltene Erkrankungen, die durch Mutationen im ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca 2+ Transporting 2 (ATP2A2) ‐ beziehungsweise ATPase Ca 2+ Tr…

Subcellular compartmentalization of STIM1 for the distinction of Darier disease from Hailey‐Hailey disease Open

Hedwig Stanisz, Christina Mitteldorf, Helena Janning, Anette Bennemann, Michael P. Schön , et al. · 2022

Summary Background and objectives Darier disease (DD) and Hailey‐Hailey disease (HHD) are rare disorders caused by mutations in the ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca 2+ Transporting 2 ( ATP2A2 ) and ATPase Ca 2+ Transporting Ty…

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome Open

Yanshan Liu, Siddharth Banka, Yingzhi Huang, J. Hardman, Derek Pye , et al. · 2022

Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linke…

Phänotypische Vielfalt bei Varianten im TP63‐Gen Open

Ariane Schmetz, Xing Xiong, Nicole Cesarato, F. Buket Basmanav, Petra C. Gierthmuehlen , et al. · 2022

Phenotype diversity associated with TP63 mutations Open

Ariane Schmetz, Xing Xiong, Nicole Cesarato, F. Buket Basmanav, Petra C. Gierthmuehlen , et al. · 2022

The Porphyrias Open

Wiebke Muschalek, Matthias A. Hermasch, Pamela Poblete‐ Gutiérrez, Jorge Frank · 2022

Summary The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etio…

Die Porphyrien Open

Wiebke Muschalek, Matthias A. Hermasch, Pamela Poblete‐ Gutiérrez, Jorge Frank · 2022

Zusammenfassung Die Porphyrien sind klinisch variable und genetisch heterogene, vorwiegend hereditäre metabolische Krankheiten, die durch eine Dysfunktion spezifischer Enzyme der Hämbiosynthese verursacht werden. Wir geben einen Überblick …

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition Open

Yanshan Liu, Siddharth Banka, Yingzhi Huang, J. Hardman, Derek Pye , et al. · 2022

Background Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linke…

Eine Frau mit hyperpigmentierten Maculae und Papeln Open

Viktor Schnabel, Matthias A. Hermasch, Sabrina Wolf, Michael P. Schön, Regina C. Betz , et al. · 2021

A woman with hyperpigmented macules and papules Open

Viktor Schnabel, Matthias A. Hermasch, Sabrina Wolf, Michael P. Schön, Regina C. Betz , et al. · 2021

We saw a 47-year-old German female with a progressive disseminated hyperpigmentation that had commenced in childhood.Her mother, grandmother und maternal uncle were likewise affected.She had been diagnosed with basal cell carcinomas on the…

Kontinuierliche medizinische Fortbildung in der Dermatologie für Ärzte und Studierende während der Coronavirus‐Pandemie – eine große Herausforderung Open

Alice Martin, Estefanía Lang, Babett Ramsauer, Thilo Gröning, Gustavo L. Bedin , et al. · 2020

Zusammenfassung Kontinuierliche medizinische Fortbildung (Continuing Medical Education, CME) ist die wesentliche Grundlage der studentischen Lehre sowie der Aus‐ und Weiterbildung von Ärzten. Eine moderne und adäquate Patientenversorgung i…

Continuing medical and student education in dermatology during the coronavirus pandemic – a major challenge Open

Alice Martin, Estefanía Lang, Babett Ramsauer, Thilo Gröning, Gustavo L. Bedin , et al. · 2020

Summary Continuing medical education (CME) is the essential basis for student teaching and for training and further development of physicians. Without it, modern and adequate patient care is unthinkable. Recently, the coronavirus pandemic,…

Schmerzhafte Hautschwellung nach Wasserkontakt Open

Matthias A. Hermasch, Viktor Schnabel, Michael P. Schön, Judith Fischer, Jorge Frank · 2020

AnamneseEin 52-jähriger deutscher Mann stellte sich mit einer Verhornungsstörung an Händen und Füßen in unserer Ambulanz vor.Sein Vater und seine Schwester waren ebenfalls betroffen.Die Hautveränderungen hatten sich kurz nach der Geburt au…

Jorge Frank YOU? Author Swipe