Work

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity

Year: 2025

Type: article

Abstract: Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS, MIM:104100, ORPHA:1010) is an exceedingly rare disorder of keratinization characterized by hypotrichosis, whitish discoloration of all 20 nails (leukonychia totalis), palmoplantar keratoderma (PPK), and hyperkeratotic lesions on different parts of the body (1). A heterozygous gain of function mutation in GJA1 has been found to cause KHLS (2). We provide the second report of a molecularly proven case of KHLS displaying this same GJA1 variant and discuss the clinical overlap of KHLS with other conditions caused by GJA1 variants.

Source: Acta Dermato Venereologica

DOI: 10.2340/actadv.v105.43168

Authors: Carlos Gutiérrez-Cerrajero, Nerea Gestoso-Uzal, Nelmar Valentina Ortiz-Cabrera, Rogelio González-Sarmiento, Ángela Hernández-Martín

Institutions: Universidad de Salamanca, Instituto de Investigación Biomédica de Salamanca, Hospital Infantil Universitario Niño Jesús

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,725