Congenital reticular ichthyosiform erythroderma
| Classification according to ICD-10 | |
|---|---|
| Q80.8 | Other congenital ichthyosis |
| ICD-10 online (WHO version 2019) | |
The Congenital reticular ichthyosiform erythroderma is a very rare congenital skin disease with the main features of an already at birth existing erythroderma with ichthyosis , often called collodion -Baby.
Synonyms are: Ichthyosis variegata; Confetti ichthyosis; English Congenital reticular ichthyosiform erythroderma; CRIE; Ichthyosis With Confetti; IWC
The first description was in 1984 by the dermatologist Michel Camenzind and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far fewer than 40 people have been reported. The inheritance is autosomal dominant .
root cause
The disease are mutations in KRT10 - gene on chromosome 17 locus q21.2 based coding for keratin 10 coded.
Clinical manifestations
Clinical criteria are:
- Beginning as a collodion baby, looking like "wrapped up"
- Generalized scaly erythroderma that remains after this membrane is shed
- Characteristic interspersed patches of healthy skin, to confetti reminiscent
diagnosis
The diagnosis is based on clinical findings.
Differential diagnosis
The following are to be distinguished:
- Forms of autosomal recessive congenital ichthyosis with erythroderma
- the congenital ichthyosiform erythroderma
literature
- V. Dvorakova, RM Watson, A. Terron-Kwiatkowski, N. Andrew, AD Irvine: Congenital reticular ichthyosiform erythroderma. In: Clinical and experimental dermatology. Vol. 41, No. 5, July 2016, pp. 576-577, doi: 10.1111 / ced.12795 , PMID 26801004 .
- AL Krunic, D. Palcesky, S. Busbey, M. Medenica: Congenital reticular ichthyosiform erythroderma-ichthyosis variegata: a case report and review of the literature. In: Acta dermato-venereologica. Vol. 83, No. 1, 2003, pp. 36-39, PMID 12636020 (Review)
Individual evidence
- ↑ a b Erythroderma, ichthyosiform reticular, congenital form. In: Orphanet (Rare Disease Database).
- ↑ a b c d e Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno: Ichthyosis with confetti: clinics, molecular genetics and management. In: Orphanet Journal of Rare Diseases. Vol. 10, 2015, doi: 10.1186 / s13023-015-0336-4 , [1]
- ↑ M. Camenzind, M. Harms, P. Chavaz, JH Saurat: Ichythose en confettis. In: Annales de dermatologie et de venereologie. Vol. 111, No. 8, 1984, pp. 675-676, PMID 6529087 .
- ↑ Ichthyosis with confetti. In: Online Mendelian Inheritance in Man . (English)
