Clinical presentation of a patient with cutis laxa with systemic involvement: a case report

Cutis laxa (CL) or elastolysis is a rare inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds (Mitra et al., 2013). The clinical presentation and the type of inheritance show considerable heterogeneity (Shehzad et al., 2010). We aimed to present the atypical case of a young male patient diagnosed at 36-year-old with CL with systemic involvement. The complex medical history, with a suspected but unconfirmed progeria at nine months, repeated lung and urinary infections, complicated inguinoscrotal hernia, prostatic hypertrophy, bilateral entropion, colorectal diverticula and heart failure, suggested a systemic genetic disease, but the absence of family history made the diagnosis of CL difficult. The skin biopsy and the characteristic features discovered during anatomopathological exam made possible the positive and differential diagnosis, creating the link between the various organ involvement and CL diagnosis. Because of the age of our patient, of normal growth and mental development, and negative family history, we suspected an autosomal dominant form of CL with early onset and severe manifestation. Of course, we cannot exclude a recessive form, due to the heterogeneity of this disease.