Restrictive dermopathy: a report of three cases.

Abstract

We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal coliagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.Several cases of the fetal akinesia/hypokinesia deformation syndrome have been described, where facial anomalies, arthrogryposis, and lung hypoplasia are associated. Examples include Pena-Shokier, NeuLaxova, cerebro-oculo-facio-skeletal, and lethal

Restrictive dermopathy: Report and review

“…The lack of elastic fibers in the thinner dermis causes a rigidity and vulnerability of the skin and impairs fetal Toriello, 1983Toriello, 1983Toriello, 1986Holbrook, 1987Schnur, 1985Schnur, 1985Lowry, 1985Lowry, 1985Lowry, 1985Lowry, 1985Witt, 1986Holbrook, 1987Witt, 1986Holbrook, 1987Gillerot, 1987Mok, 1990Mok, 1990Mok, 1990 Patient number 1 £ 2 £ 3 4 £ 5 6 £ 7 8 9 1 0 £ 11 12 VanHoestenberghe, 1990Pierard-F., 1992Welsh, 1992Welsh, 1992Paige, 1992Bergmann, 1993Dean, 1993Dean, 1993Reed, 1993 Our movement. Structural deformities, seen in restrictive dermopathy and other FADS [Hammond and Donnenfeld, 1995], may be secondary to this intrauterine immobility, as Moessinger [1983] showed.…”

Restrictive Dermopathy

“…Some have been described on the basis oftheir clinical and histolog¬ ie features as aplasia cutis congenita.6,812 It has been proposed by several authors that these cases may rep¬ resent additional cases of restrictive dermopathy or a continuum of the same basic defect.1,2,5,7,1314 Since the 1986 report of Witt et al,1 six additional cases have been reported as restrictive dermopathy. 2,5,7,13,15 All of these patients as well as our two showed nearly identical facial features and extremity contractures (Table), but there was some variability in the skin findings, even within the same infant. In some the skin appeared to be so tight that it seemed to split open when stretched or extended5813; in others it was less severely involved.…”

Restrictive Dermopathy: Report and Review

“…A few researchers reported arrested epidermal morphogenesis due to alteration in the epidermal proteins [6,15,16]. Witt et al proposed retarded terminal differentiation based on the decreased amount of high molecular weight keratins and considered the primary defect to be in collagen or collagen metabolism [6].…”