Keratinopathic ichthyosis (KPI)

Last Updated: 2023-10-12

Author(s): Lindemann H.

ICD11: Epidermolytische Ichthyose: Q80.3; Superfizielle epidermolytische Ichthyose: Q80.3; Anuläre epidermolytische Ichthyose: Q80.3; Ichthyosis Curth-Macklin: Q80.8; Kongenitale retikuläre ichthyosiforme Erythrodermie: Q80.3; Autosomal-rezessive epidermolytisch Ichthyose: Q80.3; Epidermolytische Nävi: Q80.3

Epidermolytic ichthyosis: Brocq, 1902

Superficial epidermolytic ichthyosis: Simens, 1937

Anular epidermolytic ichthyosis: Curth and Macklin, 1954

Ichthyosis Curth-Macklin: Ollendorff-Curth and Macklin, 1954

Congenital reticular ichthyosiform erythroderma: Camenzind et al. 1984; Marghescu et al. 1984

Autosomal recessive epidermolytic ichthyosis: Vodo et al. 2018

Epidermolytic ichthyosis: OMIM 113800; Bullous congenital ichthyosiform erythroderma; Keratosis rubra congenita Rille; Epidermolytic hyperkeratosis; Epidermolytic hyperkeratosis; Erythrodermia congenitalis ichthyosiformis bullosa (Brocq); Erythrodermia ichthyosiformis congenitalis Brocq; Bullous congenital ichthyosiform erythroderma; Erythrodermie ichthyosiforme congénitale bulleuse; Keratosis rubra congenita

Superficial epidermolytic ichthyosis: OMIM:146800; Epidermolytic epidermal nevus; Ichthyosis bullosa of Siemens; Ichthyosis bullosa Siemens; Superficial epidermolytic ichthyosis

Annular epidermolytic ichthyosis: OMIM 607602; Annular epidermolytic ichthyosis; Annular epidermolytic ichthyosis

Ichthyosis Curth-Macklin: OMIM:146590; Ichthyosis hystrix gravior, type Curth-Macklin; Sauriasis; Hyperkeratosis monstruosa; Ichthyosis hysterix Curth-Macklin; Ichthyosis hystrix gravior

Congenital reticular ichthyosiform erythroderma: OMIM:609165; Confetti ichthyosis; Ichthyosis en confetti; Ichthyosis variegata; Ichthyosis with confetti; IWC; Confetti ichthyosis

Autosomal recessive epidermolytic ichthyosis: OMIM:113800

Epidermolytic nevi: OMIM:113800

Keratinopathic ichthyosis (KPI) describes a group of rare non-syndromic cornification disorders. Due to mutations in one of the keratin genes, abnormalities of the keratin intermediate filaments occur. This leads to structural abnormalities of the skin and a disturbed skin barrier. The KPIs encompass a spectrum of clinical phenotypes of varying severity

Epidermolytic ichthyosis: 1 / 200,0000

Superficial epidermolytic ichthyosis: 1 / 300,000

The KPI variants are considered very rare. Their incidence is estimated to be <1 / 1,000,000.

The classification is based on clinical and molecular genetic features.

KPI can be divided into epidermolytic ichthyosis and superficial epidermolytic ichthyosis, as well as KPI variants of anular epidermolytic ichthyosis, ichthyosis Curth-Macklin, congenital reticular ichthyosiform erythroderma, autosomal recessive epidermolytic ichthyosis and epidermolytic nevi.

Epidermolytic ichthyosis: Autosomal dominant. Mutations (50% spontaneous mutations) in gene KRT1 (12q13) and gene KRT10 (17q21-q22).

Superficial epidermolytic ichthyosis: Autosomal dominant. Mutation in the gene KRT2 (12q11-q13).

KPI variants:

Anular epidermolytic ichthyosis: Autosomal dominant. Mutations in gene KRT1 and gene KRT10.

Ichthyosis Curth-Macklin: Autosomal dominant. Mutations in gene KRT1.

Ichthyosis Curth-Macklin: Autosomal dominant

Congenital reticular ichthyosiform erythroderma: Autosomal dominant. Mutations in gene KRT1 and in gene KRT10.

Autosomal recessive epidermolytic ichthyosis: Autosomal recessive. Mutations in the gene KRT10.

Autosomal recessive ichthyosis

Epidermolytic nevi: Somatic mutations. Mutations in gene KRT1 and in gene KRT10.

Epidermolytic ichthyosis: Manifestation from birth. Erythroderma with extensive disseminated skin detachments. Hyperkeratosis associated with pain on hands and feet, flexures and lips.

Superficial epidermolytic ichthyosis: Superficial blistering occurs after minor mechanical trauma or spontaneously. Mild keratosis is seen preferentially on the legs and arms. The trunk is usually free

KPI variants:

Anular epidermolytic ichthyosis: Sickle cell or anular transient, erythematous hyprekeratotic plaques.

Ichthyosis Curth-Macklin: Spiny, blackish-brown hyperkeratoses occur. Palmoplantar hyperkeratoses occur.

Ichthyosis Curth-Macklin

Congenital reticular ichthyosiform erythroderma: At birth, inflammatory erythroderma is seen. In infancy this disseminates and 1-2 cm white regression zones develop. These spread to the integument in adulthood.

Autosomal recessive epidermolytic ichthyosis: Corresponding to epidermolytic ichthyosis. Milder phenotypes are possible.

Epidermolytic nevi: Single or multiple non-inflammatory, verucous skin lesions are seen at birth. These are arranged along the Blaschko lines. Affected individuals are discussed as being at risk of giving birth to a child with bullous ichthyosiform erythoderma.

Diagnosis is usually made by clinical examination, dermapathology and molecular genetic testing. Prenatal examinations are possible

Mostly focal skin manifestations.

The depth of the affected cell layer is localised in higher cell layers compared to KRT1/10 mutations in KRT2 mutations.

Epidermolytic ichthyosis: A picture of epidermolytic hyperkeratosis is seen. Dense orhokeratotic hyperkeratosis, marked acanthosis, hypergranulosis and cytolysis of the suprabasal and granular layers. The keratinocytes show marked intracellular vacuolisation and dense mergers of keratin intermediate filaments.

(Epidermolytic hyperkeratosis may also be seen in palmoplantar hyperkeratosis or epidermolytic nevi.)

Superficial epidermolytic ichthyosis: Orthokeratotic hyperkeratoses, acanthoses and vacuolisation of the granular layer.

Especially in the neonatal period, secondary superinfections, dehydration and electrolyte imbalance are a risk.

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