Syndromic ichthyoses
Abstract: 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 more than 30 genes are known to result in various types of syndromic ichthyoses, which, in addition to mostly generalised scaling and hyperkeratosis of the skin, also show additional organ involvement. The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance, and can be further subdivided according to the predominant symptoms. In our review we provide a concise overview of the most prevalent syndromic forms of ichthyosis within each subgroup. We emphasize the importance of the clinical assessment of complex syndromes even in the era of genetic testing as a first-tier diagnostic and specifically the need to actively assess potential organ involvement in patients with ichthyosis, thereby enabling efficient diagnostic and therapeutic approaches and timely access to specialized centers for rare disorders of cornifications. As part of the Freiburg Center for Rare Diseases a Center for Cornification Disorders was recently established with collaboration of the Institute of Human Genetics and the Department of Dermatology. An early diagnosis of syndromes will be of direct benefit to the patient regarding interventional and therapeutic measures e. g. in syndromes with cardiac or metabolic involvement and allows informed reproductive options and access to prenatal and preimplantation genetic diagnosis in the family.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
Syndromic ichthyoses ; volume:35 ; number:1 ; year:2023 ; pages:23-32 ; extent:10
Medizinische Genetik ; 35, Heft 1 (2023), 23-32 (gesamt 10)
- DOI
-
10.1515/medgen-2023-2006
- URN
-
urn:nbn:de:101:1-2023040514064186894231
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:55 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
Ähnliche Objekte (12)
Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons
Bürgergesellschaft und Erwachsenenbildung
Genetics of inherited ichthyoses and related diseases
Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment
Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis
Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome
Ichthyosis with Confetti inherited from a mosaic father
Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs
Painful skin swelling after water contact
First description of inheritance of a postzygotic OPA1 mosaic variant
Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons
Bürgergesellschaft und Erwachsenenbildung
Genetics of inherited ichthyoses and related diseases
Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment
Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis
Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome
Ichthyosis with Confetti inherited from a mosaic father
Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs
Painful skin swelling after water contact
First description of inheritance of a postzygotic OPA1 mosaic variant
Regulatorische Untersuchungen zur Suszeptibilität von E. coli gegenüber dem photodynamischen Prinzip am Beispiel des SoxRS-Regulons
Bürgergesellschaft und Erwachsenenbildung
Genetics of inherited ichthyoses and related diseases
Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment
Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis
Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome
Ichthyosis with Confetti inherited from a mosaic father
Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs
Painful skin swelling after water contact