Judith Fischer
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View article: Case Report: Successful treatment of a novel variant of CARD14-mutated juvenile Pityriasis rubra pilaris with ixekizumab
Case Report: Successful treatment of a novel variant of CARD14-mutated juvenile Pityriasis rubra pilaris with ixekizumab Open
Pityriasis rubra pilaris is a rare inflammatory papulosquamous skin disease without any approved treatment options. Variants in the CARD14 (caspase recruitment domain family member 14) gene have been identified to play a role in the pathop…
View article: Management of congenital ichthyoses: guidelines of care: Part one: 2024 update
Management of congenital ichthyoses: guidelines of care: Part one: 2024 update Open
In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 …
View article: Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort Open
Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1 , KRT2 and KRT10 , resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive…
View article: Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report Open
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1). Patients suffer from hy…
View article: Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations Open
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…
View article: CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells
CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells Open
The CRISPR-Cas12a platform has attracted interest in the genome editing community because the prototypical Acidaminococcus Cas12a generates a staggered DNA double-strand break upon binding to an AT-rich protospacer-adjacent motif (PAM, 5′-…
View article: Cas12a Ultra enables efficient genome editing in human multipotent and pluripotent stem cells
Cas12a Ultra enables efficient genome editing in human multipotent and pluripotent stem cells Open
Background The development of the CRISPR-Cas12a platform has generated considerable interest in the genome editing community. Due to its AT-rich protospacer-adjacent motif (PAM, 5’-TTTV), Cas12a increased the potential number of targetable…
View article: Syndromic ichthyoses
Syndromic ichthyoses Open
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in m…
View article: Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5
Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5 Open
Ein 5-jähriger aus Syrien stammender Junge präsentierte sich mit Bildung vereinzelter praller Blasen auf gesunder Haut alle 2–3 Wochen seit dem 9. Lebensmonat. Die Blasen seien auf den ganzen Körper mit Aussparung des Kopfes verteilt und w…
View article: Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis Open
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroder…
View article: Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2
Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2 Open
Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the…
View article: Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome Open
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…
View article: Lipoid proteinosis: Novel <i>ECM1</i> pathogenic variants and intrafamilial variability in four unrelated Arab families
Lipoid proteinosis: Novel <i>ECM1</i> pathogenic variants and intrafamilial variability in four unrelated Arab families Open
Background/objectives Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 ( ECM1 ) gene. The typical clinical manifestation…
View article: Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita
Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita Open
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures that attach the epidermis to the dermal extracellular matrix. Two disorders are caused by dysfunction of collagen VII, both characterized by skin …
View article: First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant Open
Optic atrophy 1 (MIM #165500) is caused by pathogenic variants in the gene OPA1 (OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase, MIM *605290) and is inherited in an autosomal dominant manner. We describe a 6-year-old male patient with severe early…
View article: Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma
Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma Open
The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening under…
View article: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition Open
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…
View article: Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation Open
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-s…
View article: Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis
Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis Open
Background Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkab…
View article: Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis Open
Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms. Skin abnormalities …
View article: Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation Open
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one…
View article: The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome Open
In about 20–30% of all women with breast cancer, an increased number of cases of breast cancer can be observed in their family history. However, currently, only 5–10% of all breast cancer cases can be attributed to a pathogenic gene altera…
View article: Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome Open
Autosomal recessive Chanarin-Dorfman syndrome (CDS, MIM #275630) is defined as a neutral lipid storage disease with ichthyosis (NLSDI) due to an accumulation of lipid droplets in a variety of different tissues including liver and muscle ce…
View article: High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany
High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany Open
Background Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural h…
View article: Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten <i>ITGA3</i>‐Mutationen
Hautfragilität, Nierenfehlbildungen und interstitielle Lungenerkrankung aufgrund von compound‐heterozygoten <i>ITGA3</i>‐Mutationen Open
View article: Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study
Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study Open
Background Epidermolysis bullosa simplex (EBS) is the most common type of EB, a group of rare genodermatoses. Affected individuals suffer from skin blistering and report a high disease burden. In some EBS subtypes, plantar keratoderma (PK)…
View article: Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous<i>ITGA3</i> mutations
Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous<i>ITGA3</i> mutations Open
View article: A novel <i>SPINK5</i> donor splice site variant in a child with Netherton syndrome
A novel <i>SPINK5</i> donor splice site variant in a child with Netherton syndrome Open
Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5 , resulting in aberrant LEKTI expression. Method Next‐generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional stu…
View article: Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome Open
Dear Editor, Recently, mutations in adaptor-related protein complex 1 subunit beta 1 (AP1B1) have been identified as the cause of a new form of syndromic ichthyosis, which is characterized by neonatal onset of ichthyosis, erythroderma and …
View article: Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients Open
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes hav…