[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification (MEDOC) affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all ichthyosis forms has been elucidated. In 2009, the worldwide first Ichthyosis Consensus Classification was approved. Its nosology is based on the clinical presentation and reflects recent pathogenic aspects. It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital ichthyosis represents the umbrella for harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. Ichthyoses due to keratin mutations are referred to as KPI/keratinopathic ichthyosis and include epidermolytic ichthyosis (EI) and superficial epidermolytic ichthyosis (SEI). In Germany the Network for Ichthyoses and Related Keratinization Disorders (NIRK) and the patient organization Selbsthilfe Ichthyose e.V. provide contact points for diagnostic and therapeutic questions.
Oji
V
V
Klinik und Poliklinik für Hautkrankheiten, Allgemeine Dermatologie und Venerologie, Von-Esmarch-Str. 58, 48149, Münster. ojiv@mednet.uni-muenster.de
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007039:Hypotrichosis / Q000145:classification / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007057:Ichthyosis / Q000145:classification* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017490:Ichthyosis, Lamellar / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D012867:Skin / Q000473:pathology; D013577:Syndrome; D009626:Terminology as Topic
Am J Clin Dermatol. 2009;10(6):351-64
19824737
Acta Derm Venereol. 2008;88(1):4-14
18176742
J Invest Dermatol. 2007 Jun;127(6):1371-4
17255957
Am J Hum Genet. 2009 Aug;85(2):248-53
19631310
Am J Hum Genet. 2010 Apr 9;86(4):596-603
20226437
J Invest Dermatol. 2009 Aug;129(8):2068-71
19212342
Nat Genet. 2006 Mar;38(3):337-42
16444271
J Lipid Res. 2008 Apr;49(4):697-714
18245815
J Am Acad Dermatol. 2010 Oct;63(4):607-41
20643494
J Invest Dermatol. 2009 Jun;129(6):1319-21
19434086
Acta Derm Venereol Suppl (Stockh). 2003 May;(213):34-47
12822194
Adv Dermatol. 2007;23:231-56
18159904
J Invest Dermatol. 2009 Jun;129(6):1421-8
19131948
J Allergy Clin Immunol. 2009 Jun;123(6):1361-70.e7
19501237
J Invest Dermatol. 1966 Dec;47(6):561-7
5957926