title: Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
abstract: BACKGROUND
  Collodion phenotype is a term applied to the condition affecting a newborn involving a parchmentlike membrane covering the whole body surface (collodion membrane). This presentation is common to several different forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI), and harlequin ichthyosis (HI). Recent years have seen considerable advances in our understanding of the molecular basis of autosomal recessive forms of congenital ichthyosis. Several genetic loci have been identified for LI and NCIE.
  
  
  METHODS
  We describe the clinical and molecular features of 2 cases of self-healing newborns of collodion phenotype developing mild NCIE. A dramatic improvement of the skin was observed in the first few weeks after birth in both cases. The molecular analysis of the ALOX12B gene demonstrated that both patients were compound heterozygous for previously unreported mutations.
  
  
  CONCLUSIONS
  Both patients were compound heterozygous for novel ALOX12B mutations, underscoring the concept that mutations in at least 2 different genes, ALOX12B and TGM1, may result in this unusual clinical phenotype.
authors.affiliation: Pediatric/Adolescent Dermatology, Specially for Children, 1301 Barbara Jordan Blvd, Ste 200, Austin, TX 78723, USA. mlevy@sfcaustin.com
authors.forename: Mandy
authors.initials: M
authors.lastname: Harting
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: C Stanley
authors.initials: CS
authors.lastname: Chan
authors.forename: Joslyn
authors.initials: J
authors.lastname: Kirby
authors.forename: Megan K
authors.initials: MK
authors.lastname: Dishop
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
authors.forename: Albert C
authors.initials: AC
authors.lastname: Yan
authors.forename: Moise L
authors.initials: ML
authors.lastname: Levy
mesh_terms: D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics*; D003101:Collodion / Q000378:metabolism*; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics
chemical_list: D003101:Collodion; D004247:DNA; C514086:ALOX12B protein, human; D001092:Arachidonate 12-Lipoxygenase