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Special Feature |

Pathological Case of the Month FREE

Christof Dame, MD; Ingrid Hausser, ScD; Janique Geukens, MD; Rolf E. Brenner, MD
[+] Author Affiliations

Section Editor: Enid Gilbert-barness, MD


Arch Pediatr Adolesc Med. 2001;155(11):1275-1276. doi:10.1001/archpedi.155.11.1275.
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SKIN HYPEREXTENSIBILITY was present in a 10-year-old girl (Figure 1). After minor injuries, connective tissue fragility manifested as easy bruising; the wounds were widely gaping, and more than 20 surgical procedures were performed. Thin, brownish, discolored, atrophic scars with a papyraceous appearance were found on typical pressure points such as the forehead, elbows, and knees. On the elbows, molluscoid pseudotumors were obvious. Joint hypermobility was shown by passive and active dorsiflexion of the fingers, passive opposition of the thumbs to the flexor aspect of the forearm, and hypermobility of the elbows and knees. Kyphoscoliosis and multiple hematomas were obvious. Within the patient's family, similar clinical features were reported for her father and her great grandmother. Electron micrographs of the patient's skin showed numerous "composite" collagen fibrils, described as "cauliflower" deformity within the whole dermal connective tissue (Figure 2 and Figure 3).

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