Variable clinical presentation of cutis laxa

Abstract

We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under‐diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

“…Accordingly, in adult patients with normal nutritional status skin wrinkling and the general appearance was not striking enough to suspect a genetic syndrome. Similar observations were made previously [Gazit et al, 1973;Fitzsimmons et al, 1985]. Hunter [1988] suggested that GO may be underdiagnosed, which may be also be true for WSS.…”

“…This phenotype tends to regress with age and the improvement of the nutritional status (Fig. 4) similar to previous descriptions [Fitzsimmons et al, 1985;Patton et al, 1987]. Not all of our WSS infants were malnourished and we expect the diagnosis of WSS may be overlooked in the absence of malnutrition.…”

“…Based on five children from two consanguineous Arab families with overlapping features [Al-Gazali et al, 2001] suggested that GO and WSS may represent variable manifestations of the same disorder. In addition, the central nervous system (e.g., agenesis of corpus callosum in WSS), as well as other organ systems may be involved to a variable degree in all syndromes associated with wrinkly skin [Fitzsimmons et al, 1985;Patton et al, 1987]. The histological correlate of the increased skin laxity in these disorders is a reduced amount of elastic fibers [Kielty, 2006].…”

Cutis laxa: A report of two interesting cases

“…Cutis laxa is a rare connective tissue disorder, which may be inherited or acquired, and is characterized by progressive looseness of skin, associated with abnormalities of other organs and structures such as lung, vasculature or gastrointestinal tract[1] as they contain elastic tissues. The hereditary form of cutis laxa may be inherited as either autosomal dominant, X-linked recessive or autosomal recessive trait.…”

“…[46] The clinical appearance is characterized by inelastic, loose and pendulous skin that produces a wrinkled, prematurely aged appearance. [1] The primary change is in the elastic fiber, which is decreased or nearly absent in the dermis. [7] Here, we describe 2 cases of acquired cutis laxa.…”