Lort-Jacob verrucous nodular keratoderma is a rare hereditary skin disease characterized by the appearance of multiple warty growths and nodular formations on the skin.
The disease is caused by a mutation in the KRT5 gene, which encodes the keratin 5 protein, which is part of the keratinocytes of the basal layer of the epidermis. The mutation leads to disruption of the keratinization process and the formation of warty growths.
Clinically manifests itself from early childhood in the form of multiple papillomatous warty formations on the skin, mainly in the area of the extremities and trunk. The formations tend to merge with the formation of plaques and nodular growths. The lesions are accompanied by itching.
Diagnosis is based on the clinical picture and histological examination of a skin biopsy. Treatment is symptomatic and aimed at eliminating symptoms and correcting cosmetic defects.
Lort-Jacob verrucous nodular keratoderma is a rare genetically determined skin disease that requires differential diagnosis with other warty dermatoses.