Loricrin keratoderm Q82.8

Portal, 1685; Vohwinkel, 1929; Wigley, 1929; Camisa and Rossana 1984

Evidence to date has shown 8 autosomal dominant frameshift mutations in the loricrin gene. The LORICRIN gene (LOR) is mapped to chromosome 1q21. Loricrin is an important component of the"cornified envelope". Mutations of the loricrin gene have also been detected in cases of erythrokeratoderma progressiva symmetrica.

Massive, diffuse palmoplantar keratoses with livid margin, hyperhidrosis, contractures as well as typical anular keratotic lacerations up to the loss of acra. Keratoses can also occur on ankles (knuckle pads), knees, forearms and elbows. Some children are born as collodion babies.

Hyperkeratoses such as lacerations generally respond well to systemic retinoids such as acitretin (neotigason) or isotretinoin (Menta Simonsen Nico et al. 2017).

Dosage for acitretin: Initially 0.5 mg/kg bw/day for 4-6 months, slowly decrease according to the clinic. Cave! Monitor bone growth in children, caution in women of childbearing potential! Externally symptomatic according to the keratosis palmoplantaris diffusa circumscripta. Otherwise according to the clinical appearance.

Recently, a special form of regression phenomenon has been described in this clinical picture. Clinically, progressive, whitish regression zones in lesioned skin were observed in which the original LOR mutation was no longer detectable. This phenomenon is described as revertant mosaicism. These are revertant mutants in which an earlier mutation is reversed by another mutation. This phenomenon represents a kind of natural gene therapy (Suzuki S et al. 2019).

An analogous regression phenomenon is also found in congenital reticular ichthyosiform erythroderma , where the original keratin mutation is lost through spontaneous recombination events, resulting in a "confetti-like" clinical appearance.

The clinical symptoms overlap with those of Bart-Pumphrey syndrome, which also has a mutation of the GJB2 gene. However, the lacing rings are missing in this syndrome.

Vohwinkel keratoderma must also be distinguished. Some authors assign keratoderma with strangles only to the "Keratoma hereditarium mutilans" of Vohwinkel keratoderma and not to Loricrin kratoderma (Oji v. 2018).

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3. Ishida-Yamamoto A et al (2000) Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. J Invest Dermatol 115: 1088-1094
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