Congenital reticular ichthyosiform erythrodermaQ80.3

Camenzind et al. 1984; Marghescu et al. 1984

Rare, autosomal dominant or also sporadic (Diociaiuti A et al. 2014), keratinopathic genodermatosis in which the children are born under the picture of an inflammatory erythroderma (in individual cases also as collodion bay - Foo SH et al. 2017), but in which disseminated, 1-2cm large, white regression zones develop in infancy, which spread to the entire integument at the latest in adulthood. Because of this morphological feature, the descriptive name "confetti ichthyosis" was chosen.

Worldwide <50 patients with this clinical picture have been described (Guerra L et al. 2015)

This is caused by frameshift mutations in the keratin 10(KRT10) or keratin 1(KRT1) gene (Lim YH et al. 2016). The colorful picture of confetti-like regressions arises from spontaneous recombination events in which stem cells lose their applied keratin mutation. These cells are apparently able to displace keratinopathic cell clones, so that the skin appears white here. However, complete healing does not occur!

See also explanations for the so-called loricrin keratoderm(keratosis palmoplantaris mutilans with mutation in loricin (type Camisa)).

Depending on age, the picture of inflammatory erythroderma (Guerra L et al. 2015) or the pied confetti pattern of "reticular ichthyosiform erythroderma" appears. Palmoplantar keratosis is also detectable. In addition, malformations of the auricles, hypoplasia of the nipples, dorsal, acral hypertrichosis and ectropias of the eyelids have been described in individual cases (Spoerri I et al. 2014)

Acanthosis, laminar parakeratosis, conspicuous vacuumuolated epithelial cells which are grouped or linearly distributed through the surface epithelium. Loose lympho-histiocytic corial infiltrate.

Detection of mutations in the keratin1 or keratin10 gene.

In the few published cases retinoids(acitretin) were successful at low doses (Guerra L et al. 2015)

1. Camenzind M et al. (1984) Confetti ichthyosis. Ann Dermatol Venereol 111:675-676.
2. Diociaiuti A et al. (2014) Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10 Acta Derm Venereol 94:579-582.
3. Foo SH et al (2017) Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. Clin Exp Dermatol 42:543-544.
4. Guerra L et al (2015) Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis 10:115.
5. Lim YH et al (2016) Expanding the Mutation Spectrum of Ichthyosis with Confetti. J Invest Dermatol 136:1941-1943.
6. Spoerri I et al (2014) The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome. JAMA Dermatol 151:64-69.