Parents who are carriers of the defective genes show no symptoms but their children have a 25% chance of having CIE.There are several genetic faults which can produce CIE. Known genes involved include TGM1, ALOX12B, ALOXE3, NIPAL4, ABCA12, CYP4F22, LIPN, CERS3, PNPLA1, ST14, and CASP14. Diagnosis
Diagnosis of this condition is done via:
Sequencing of genes- TG1,ALOXE3, ALOX12B, NIPAL4,CYP4F2, CERS3, LIPN etc..Measuring insitu TG1 activity in cryostat sectionelectron microscopy- cholesterol clefts in stratum corneum

Treatment
See also
Ichthyosis
Lamellar ichthyosis
Collodion baby
List of cutaneous conditions

References
External links
GeneReviews/NCBI/NIH/UW entry on Autosomal Recessive Congenital Ichthyosis
In two of these families, two family-specific single nucleotide polymorphisms were present while in the other there persisted a large-scale deletion (821 base pairs of DNA) on chromosome 3 which includes 74 bases coding for a section of the H/ACA domain. These three different mutations result in a mild form of dyskeratosis congenita which uniquely follows an autosomal dominant pattern of inheritance. Premature graying, early dental loss, predisposition to skin cancer, as well as shortening of telomere length continue to be characteristic of this disease. Autosomal recessive
6 genes:
The true phenotype of DKC individuals may depend upon which protein has incurred a mutation. One documented autosomal recessive mutation in a family that carries DKC has been found in NOP10. Specifically, the mutation is a change of base from cytosine to thymine in a highly conserved region of the NOP10 sequence. This mutation, on chromosome 15, results in an amino acid change from arginine to tryptophan. Homozygous recessive individuals show the symptoms of dyskeratosis congenita in full. As compared to age-matched normal individuals, those suffering from DKC have telomeres of a much shorter length. Furthermore, heterozygotes, those who have one normal allele and one coding for the disease, also show relatively shortened telomeres. The cause of this was determined to be a reduction in TERC levels in those with the Nop10 mutation. With TERC levels down, telomere maintenance, especially in development, would be presumed to suffer accordingly. This would lead to the telomere shortening described.NHP2 mutations are similar in characterization to NOP10.