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

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.