Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.

ABSTRACT

BACKGROUND: Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS We describe for the first time a newborn girl with restrictive dermopathy, transposition of the great vessels, and microcolon. She had thin shiny skin with nearly no compliance indicating restrictive dermopathy. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. She also had left transposition of the great artery with small atrial septal defect, bilateral hypoplasia of the first rib, and congenital stenosis of the small bowel with microcolon. CONCLUSIONS: The pathogonomic diagnostic features remain reduced dermal thickness and nearly complete absence of elastic fibers in the dermis. In mice, a defective fatty acid transport protein 4 gene (Fatp4) leads to clear signs of restrictive dermopathy by influencing the arrangement of the lipids in the epidermis. Whether the left transposition of the great artery is associated with restrictive dermopathy or represents an additional malformation of multifactorial, polygenetic, or monogenetic cause remains open.