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October 1993

Dermatosparaxis in Children: A Case Report and Review of the Newly Recognized Phenotype

Author Affiliations

From the Departments of Genetics (Drs Petty and Seashore), Pediatrics (Drs Petty, Seashore, and Spiesel), and Dermatology (Drs Braverman and Milstone), Yale University School of Medicine, New Haven, Conn; and the Department of Biological Structure, University of Washington, Seattle (Dr Smith).

Arch Dermatol. 1993;129(10):1310-1315. doi:10.1001/archderm.1993.01680310080014

Background:  Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicroscopic findings have been recognized to date.

Observations:  We describe the clinical and electron-microscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts. He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation. The diagnosis of dermatosparaxis was made by electron-microscopic findings consisting of characteristic small, irregular, and circular collagen fibers in the skin. His phenotype is strikingly similar to two other reported children with the disorder, which is now classified in humans as Ehlers-Danlos VII-C.

Conclusions:  The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation. A suspected clinical diagnosis can be confirmed by electron-microscopic and biochemical studies of connective tissue.(Arch Dermatol. 1993;129:1310-1315)