Recurrent and novel GLTP variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion

This study reports four novel and one recurrent biallelic GLTP variants in a new cohort, solidifying its role in nonsyndromic epidermal differentiation disorder (nEDD). The recurrent variant c.58_62del shows a founder effect in the Chinese population. A consistent histopathologic feature of GLTP-related nEDD is cytoplasmic vacuolization of keratinocytes associated with autophagic flux impairment, suggesting a potential pathognomonic sign for this condition.