Self-improving congenital ichthyosisQ80.2

Last updated on: 21.01.2022

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

Autosomal recessiveself-improving congenital ichthyosis(SICI), also called self-healing collodion baby (SHCB), is a minus variant of non-syndromic autosomal recessive congenitalichthyosis(ARCI). Harlequin ichthyosis (OMIM:242500), the different variants of autosomal recessive lamellarichthyosis/congenital ichthyosiform erythroderma (see below congenital autosomal recessive ichthyoses). "Self-improving congenital ichthyosis" is characterized by the presence of a collodion membrane at birth. This heals within the first few weeks of life. Adults develop varying degrees of ichthyosis, usually mild.

Occurrence/EpidemiologyThis section has been translated automatically.

Prevalence: <1 / 1 000 000

EtiopathogenesisThis section has been translated automatically.

Mutations in 3 genes, ALOX12B, ALOXE3, and TGM1 are associated with self-healing congenital ichthyosis, with mutations in ALOX12B being the most common. The ALOX12B and ALOXE3 genes encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R-type (12R-LOX), and epidermal-type lipoxygenase-3 (eLOX3), respectively.

Deficiency of 12R-LOX and eLOX3 disrupts epidermal barrier function and leads to abnormal epidermal differentiation. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been described in the literature.

ManifestationThis section has been translated automatically.

Neonatal

Clinical featuresThis section has been translated automatically.

Infants born with congenital autosomal recessive ichthyosis (ARCI) are often enveloped by a collodion membrane that, when detached, reveals a lamellar or erythrodermic form of ichthyosis.

However, some newborns show spontaneous detachment of the collodion membrane 2-4 weeks after birth and subsequently present near-normal skin. This phenotype is referred to as"self-healing collodion baby" (SHCB) or self-healing congenital ichthyosis.

Progression/forecastThis section has been translated automatically.

In a Swedish/Danish collective, at a later examination, patients aged 2 to 37 years showed mild xerosis of the skin, mild or focal scaling, hyperlinearity of the palms with keratoderma, and erythrosis facialis combined with anhidrosis.

LiteratureThis section has been translated automatically.

  1. Anker Pet al. (2021) Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype. Life (Basel) 11:624.
  2. Hotz A et al. (2021) Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel) 12: 80.
  3. Vahlquist A et al. (2010) Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 130:438-443.

Last updated on: 21.01.2022