The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity

Abstract

Cutis laxa is a heterogeneous group of diseases, with loose, wrinkled skin folds and hyperelasticity of the skin. There are overlapping of clinical features of the group of syndrome associated with cutis laxa, including congenital cutis laxa, wrinkly skin syndrome and gerodermia osteodysplastica. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. We hereby describe two Indian patients with wrinkled skin and mild craniofacial dysmorphic features who had molecular confirmation of autosomal recessive cutis laxa.

Keywords: Autosomal recessive; cutis laxa; wrinkled skin.

Figure 1

Facial features of case 1. (a) Wrinkled skin folds on face and neck and (b) on hands

Figure 2

X-ray showing bilateral dislocation of hip

Figure 3

Facial features of case 2. (a) Open anterior fontanel, frontal bossing, deep set eyes, blue sclera, prominent ears, long philtrum. (b) Wrinkling on abdomen and (c) on dorsum of hands

Figure 4

X-ray showing dislocation of left hip