Epidermolytic ichthyosis Q80.3

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 22.01.2022

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

History
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Brocq, 1902

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

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Dermatology

Ichthyosis (overview)

Group of genetically heterogeneous cornification disorders (Ichthys = fish) with mostly universal, abnormal...

Occurrence/Epidemiology
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Incidence: 1/200.000 inhabitants/year.

Etiopathogenesis
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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.

Manifestation
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From birth.

Clinical features
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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.

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

Electron microscopy: Clumped keratin filaments of the suprabasal layers.

Diagnosis
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Clinic, histology, electron microscopy.

Differential diagnosis
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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)
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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.

Therapy
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S.u. Ichthyosis.

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

Literature
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Austin Smith W et al (2016) Infantile epidermolytic ichthyosis with prominent maternal palmoplantar
keratoderma. Dermatol Online J 22. pii: 13030/qt96w8m091.
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
Brocq LAJ (1902) Erythrodermie congenitale ichtyosiforme avec hyperepidermotrophie. Annales de dermatologie et de syphilographie (Paris) III: 1-31.
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.
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.
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