Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.

Background: Rare syndromic skin disorders may represent a diagnostic challenge.

Aims: We report a unique case associating cutaneous manifestations and developmental delay.

Materials & Methods: The affected 14 months old boy had poikiloderma, facial dysmorphism with deep-set eyes, atrichia, as well as nail dysplasia and non-descended testes.