Autosomal Dominant Cutis Laxa type 3 in a Lebanese female child: a case report and literature review about an exceptionally rare genetic disease

Abstract Cutis Laxa is a heterogeneous group of diseases characterized by a loose, wrinkled and prematurely aged skin appearance and have been documented to be transmitted through autosomal recessive, autosomal dominant, or X-linked patterns. With an estimated prevalence of less than one person per million, Autosomal Dominant Cutis Laxa type 3 cases have rarely been reported. In this article, we present a case of a Lebanese female child diagnosed with Autosomal Dominant Cutis Laxa type 3. The patient was diagnosed at 18 months with a heterozygous mutation in ALDH18A1 . The variant is c.413G > A p. Arg138Gln. To the best of our knowledge, this is the first reported case from Lebanon. As such, it extends the geographical and ethnic distribution of the disorder and provides additional evidence supporting the phenotypic spectrum associated with this pathogenic variant. Additionally, this article aims also to shed the light on the need for clinicians to include genetic disease in their differential diagnosis whenever an unexplained multisystemic involvement is present instead of solely thinking as a single-specialty physician.