ScholarLens Back to search
2017•Journal of Pakistan Association of DermatologistsOpen access

Jadassohn-Lewandowsky syndrome: A rare genodermatosis

Sunil Gupta, DEEPIKA DEEPIKA, Monika Monika, Khushman Singh

Open full text 0 citations

Abstract

Pachyonychia congenita (PC) is a rare type of genodermatosis characterized by palmoplantar keratoderma, subungual hyperkeratosis, and oral mucosal leukokeratoses along with other features like hyperkeratotic follicular papules, hyperhidrosis of palms and soles, and hair abnormalities. It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body.

Open-access reader

About this research paper

What this paper is about

Pachyonychia congenita (PC) is a rare type of genodermatosis characterized by palmoplantar keratoderma, subungual hyperkeratosis, and oral mucosal leukokeratoses along with other features like hyperkeratotic follicular papules, hyperhidrosis of palms and soles, and hair abnormalities. It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body.

Why it matters

A significance statement is not available in the OpenAlex record.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Pachyonychia congenita (PC) is a rare type of genodermatosis characterized by palmoplantar keratoderma, subungual hyperkeratosis, and oral mucosal leukokeratoses along with other features like hyperkeratotic follicular papules, hyperhidrosis of palms and soles, and hair abnormalities. It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body.

Key concepts: Genodermatosis, Medicine, Palmoplantar keratoderma, Dermatology, Hyperkeratosis, Keratoderma, Hyperhidrosis, Dyskeratosis

Back to paper searchBrowse research topicsOriginal source
Jadassohn-Lewandowsky syndrome: A rare genodermatosis — Research Paper | ScholarLens