This Case Will Make Your Skin Split - Page #4
 

Working Diagnosis:
Dermatosparaxis

Treatment:
The athlete was held out of any wrestling or lower body exercise for a two week period while his laceration healed. His stitches were removed after two weeks. Local scar care with Steri-Strips and Mastisol for added strength was provided.

Outcome:
He returned to exercise after a two week rest period. He was gradually integrated back into wrestling three weeks after his injury. He went on to place 2nd at the state tournament.

Author's Comments:
Dermatosparaxis is a very rare disorder. It is a form of Ehlers Danlos. There are very few case reports in the literature. Classically patients have stretchy/doughy skin with areas of redundant skin that is fragile and susceptible to bruising and tears. They often have a characteristic facies with large fontanelles, puffy eyelids, micrognathia and shortened fingers. Diagnosis is largely clinical, however, skin biopsy and histopathological analysis can confirm the diagnosis. There is no specific treatment for Dermatosparaxis. If clinical suspicion is high for Dermatosparaxis it is advised to have the patient undergo cardiac imaging with echocardiography as well as a detailed ophthalmologic examination to rule out potentially serious complications of Ehlers Danlos Syndrome.

Editor's Comments:
As the author states dermatosparaxis is a very rare condition. It used to be called Ehlers Danlos Syndrome Type VIIC, but is now referred to as dermatosparaxis.

References:
1. Smith LT, Wertelecki W, Milstone LM, Petty EM, Seashore MR, Braverman IM, et al. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American journal of human genetics. 1992 Aug;51(2):235-44. PubMed PMID: 1642226. Pubmed Central PMCID: 1682688.
2. Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, et al. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). American journal of medical genetics Part A. 2004 Nov 15;131(1):18-28. PubMed PMID: 15389701.
3. Reardon W, Winter RM, Smith LT, Lake BD, Rossiter M, Baraitser M. The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC). Clinical dysmorphology. 1995 Jan;4(1):1-11. PubMed PMID: 7735500.
4. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. The New England journal of medicine. 2000 Mar 9;342(10):673-80. PubMed PMID: 10706896.
5. Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, et al. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. The Journal of investigative dermatology. 2004 Oct;123(4):656-63. PubMed PMID: 15373769.

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