Images (1)

Epidermolytic ichthyosisQ80.3

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 22.01.2022

Dieser Artikel auf Deutsch

Synonym(s)

Bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; Epidermolytic hyperkeratosis; Erythroderma ichthyosiforme congénitale bulleuse; Erythrodermia congenitalis ichthyosiformis bullosa (Brocq); Erythrodermia ichthyosiformis congenitalis Brocq; Keratosis rubra congenita; Keratosis rubra congenita Groove; MIM 113800

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

HistoryThis section has been translated automatically.

Brocq, 1902

DefinitionThis section has been translated automatically.

Rare, congenital cornification disorder. Special form of harlequin ichthyosis.

Occurrence/EpidemiologyThis section has been translated automatically.

Incidence: 1/200.000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

This autosomal dominant inherited ichthyosiform erythroderma is caused by mutations (50% spontaneous mutations: Austin Smith W et al 2016) in the keratin genes KRT1 and KRT10. KRT 1 maps to gene locus 12q13, KRT 10 maps to gene locus 17q21-q22. The mutations cause defective keratin intermediate filaments.

ManifestationThis section has been translated automatically.

From birth.

Clinical featuresThis section has been translated automatically.

Universal reddening of the skin (erythroderma) with disseminated, large-area, blistery skin detachment; also real blistering. Painful, chapped hyperkeratoses on palmae, plantae, joint bends and lips. The tendency to blistering decreases in the first months of life. Especially intertriginous increasing formation of large, dirty brown keratoses.

HistologyThis section has been translated automatically.

Acantholytic hyperkeratosis with granular degeneration and vacuolar degeneration of the upper dermis.

Electron microscopy: Clumped keratin filaments of the suprabasal layers.

DiagnosisThis section has been translated automatically.

Clinic, histology, electron microscopy.

Differential diagnosisThis section has been translated automatically.

  • Blistering diseases such as SSSS (Staphylococcal scalded skin syndrome = staphylogenic Lyell syndrome): highly acute clinical picture with severe signs of infection.
  • Diseases of the epidermolysis-bullosa group: mechanobullous triggering; depending on the type of disease in infancy rather less expressive.

Complication(s)This section has been translated automatically.

In this form of ichthyosis, increased perspiratio insensibilis, temperature instability (aggressive temperature management is important) and increased susceptibility to infection can persist for several weeks and months.

TherapyThis section has been translated automatically.

S.u. Ichthyosis.

External therapyThis section has been translated automatically.

Nourishing, hydrating and keratolytic external agents such as 5-10% urea, 10% lactic acid and external retinoids. S.u. Ichthyosis vulgaris, autosomal dominant.

Cave! External retinoids can cause irritation, especially on open skin areas!

Internal therapyThis section has been translated automatically.

Low-dose systemic retinoids such as acitretin (neotigason) can be tried. The effectiveness is judged differently in the literature. Individual successes are described. Initial 0.5 mg/kg bw/day, long-term maintenance dose according to clinical practice.

Caution! Especially with higher doses, exacerbations can also occur under retinoids!

Note(s)This section has been translated automatically.

It is likely that epidermolytic ichthyosis and"superficial epidermolytic ichthyosis" are different phenotypes or severities of the same genotype (OMIM113800).

LiteratureThis section has been translated automatically.

  1. Austin Smith W et al (2016) Infantile epidermolytic ichthyosis with prominent maternal palmoplantar
  2. keratoderma. Dermatol Online J 22. pii: 13030/qt96w8m091.
  3. Bogenrieder T et al (2003) Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child. Acta Derm Venereol 83: 52-54
  4. Brocq LAJ (1902) Erythrodermie congenitale ichtyosiforme avec hyperepidermotrophie. Annales de dermatologie et de syphilographie (Paris) III: 1-31.
  5. Diociaiuti A et al (2020) First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int J Mol Sci 21:7707.
  6. Ingen-Housz-Oro S et al (2001) Bullous and non-bullous ichthyosiform erythroderma associated with generalized pustular psoriasis of von Zumbusch type. Br J Dermatol 145: 823-825.
  7. Saeki H et al (2002) A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. J Dermatol 29: 168-171

Authors

Last updated on: 22.01.2022

Author: Prof. Dr. med. Peter Altmeyer