title: Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.
abstract: Congenital (non-bullous) ichthyosis is a rare group of keratinizing disorders which can be tentatively subclassified based on clinical criteria, analysis of transglutaminase 1 gene mutations and electron microscopy of epidermis. We studied 83 patients who were all on topical therapy and in 16 cases also on oral retinoids. Three main groups of patients were distinguished: (A) those with transglutaminase 1 gene mutations (n=44), (B) those without transglutaminase 1 gene mutations showing a coarse, generalized scaling (n=19), and (C) those without transglutaminase 1 gene mutations showing only fine or focal scaling (n=20). On clinical scoring, patients in group A were more hyperkeratotic and less erythematous than those in group B (p < 0.05). Anhidrosis was recorded in nearly all patients (> or = 80%), but ectropion and a collodion phenotype at birth were more common in group A versus other groups. Ultrastructurally, a high frequency of type I (Anton-Lamprecht's classification) was found in all three groups (37-63%), 20 cases of type II in group A and a few cases of types III and IV in groups B and C, respectively. In conclusion, transglutaminase 1 gene mutation is a major cause of congenital ichthyosis in Sweden and Estonia, and is often associated with severe scaling and ultrastructural type II in corneocytes. The transglutaminase-unrelated cases are more heterogeneous, probably reflecting a more varied aetiology.
authors.affiliation: Department of Medical Sciences (Dermatology), Uppsala University, Uppsala, Sweden.
authors.forename: Agneta
authors.initials: A
authors.lastname: Gånemo
authors.forename: Maritta
authors.initials: M
authors.lastname: Pigg
authors.forename: Marie
authors.initials: M
authors.lastname: Virtanen
authors.forename: Terje
authors.initials: T
authors.lastname: Kukk
authors.forename: Heli
authors.initials: H
authors.lastname: Raudsepp
authors.forename: Ingrid
authors.initials: I
authors.lastname: Rossman-Ringdahl
authors.forename: Per
authors.initials: P
authors.lastname: Westermark
authors.forename: Kirsti-Maria
authors.initials: KM
authors.lastname: Niemi
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
authors.forename: Anders
authors.initials: A
authors.lastname: Vahlquist
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004957:Estonia / Q000453:epidemiology; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000648:ultrastructure*; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012737:Sex Factors; D012867:Skin / Q000648:ultrastructure; D013548:Sweden / Q000453:epidemiology; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1