MONDO: 0015018;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 19p13.12 | Ichthyosis, congenital, autosomal recessive 12 | 617320 | Autosomal recessive | 3 | CASP14 | 605848 |
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-12 (ARCI12) is caused by homozygous mutation in the CASP14 gene (605848) on chromosome 19p13.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Kirchmeier et al. (2017) described a male Algerian patient, born without a collodion membrane, who exhibited nonerythematous fine whitish scales over the entire body. The authors also studied 2 sisters from a consanguineous Algerian family who showed similarly mild generalized ichthyosis.
The transmission pattern of congenital ichthyosis in the families reported by Kirchmeier et al. (2017) was consistent with autosomal recessive inheritance.
In a consanguineous Algerian family in which 2 sisters had mild congenital ichthyosis, Kirchmeier et al. (2017) performed whole-exome sequencing and identified homozygosity for a 2-bp deletion in the CASP14 gene (605848.0001) that segregated fully with disease in the family. Sanger sequencing of CASP14 in 11 additional Algerian patients with ichthyosis who had homozygous haplotypes around CASP14 revealed homozygosity for the same 2-bp deletion in 1 more patient; the mutation segregated with disease in his family as well.
Akiyama, M., Sawamura, D., Shimizu, H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin. Exp. Derm. 28: 235-240, 2003. [PubMed: 12780701] [Full Text: https://doi.org/10.1046/j.1365-2230.2003.01295.x]
Fischer, J. Autosomal recessive congenital ichthyosis. J. Invest. Derm. 129: 1319-1321, 2009. [PubMed: 19434086] [Full Text: https://doi.org/10.1038/jid.2009.57]
Kirchmeier, P., Zimmer, A., Bouadjar, B., Rosler, B., Fischer, J. Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. Acta Derm. Venereol. 97: 102-104, 2017. [PubMed: 27494380] [Full Text: https://doi.org/10.2340/00015555-2510]
Oji, V., Tadini, G., Akiyama, M., Bardon, C. B., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P., Fischer, J., Fleckman, P., Gina, M., and 25 others. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Soreze 2009. J. Am. Acad. Derm. 63: 607-641, 2010. [PubMed: 20643494] [Full Text: https://doi.org/10.1016/j.jaad.2009.11.020]