Ehlers-Danlos Syndrome with Muluscoid Pseudo-tumor, Spheroid and Keratinous Cyst – Report a Rare Case

Document Type : Case Report

Authors

1 Department of Pathology, School of Medicine, Shaheed Sadoughi University of Medical Sciences, Yazd, Iran.

2 Student, School of Medicine, Membership of Scientific Society of Medicine, Yazd Branch, Islamic Azad University. Yazd, Iran.

Abstract

AbstractBackground: Ehlers-danlos syndrome is consisted of a group of heterogeneous and rare inherited disorders of connective tissue that is diagnosed by increased range of joint movements, friability, and increasing of skin elasticity. The diagnosis of this syndrome is often difficult and based on clinical criteria and family history. Many skin lesions are reported from the disease up to now and various and simultaneously skin lesions in this case is the main propose of this report. Case report: A 11-year-old male with cutaneous lesions on the right forearm, left elbow, and right knee was referred after a mild injury. Patient recalled history of similar lessions, delay in wound healing, easy bruising, and recurrent dislocation of wrist from childhood period. According to clinical manifestation, Ehlers-danlos syndrome was probable diagnosis for this patient. However due to the disavailability of specific diagnostic test in our country, there was no definite diagnosis. After sending biopsies of skin lesions to the pathology laboratory, spheroid nodule of forearm, organized hematoma in the elbow, and keratinous cyst in the right knee were diagnosed.Conclusion: Fat necrosis, traumatic hematoma, hernia of fat into the dermis with calcification and atrophic scars have been reported as various skin lesions in Ehlers-Danlos syndrome. Three synchronous skin lesions and perforated keratinous cyst with marked inflammatory of foreign body distinguished this case from other similar previous cases. This case is the first case of Ehlers-Danlos syndrome with mentioned cutaneous dermatologic manifestations in Iran.

Keywords

References

  1. De Felice C, Di Maggio G, Toti P, Parrini S, Salzano A, Lagrasta UE, et al. Infantile hyper-trophic pyloric stenosis and asymptomatic joint hypermobility. J Pediatr 2001; 138(4): 596-8.
  2. Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, et al. Decreased ex-pression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Mol Genet Metab 2004; 83(4): 312-21.
  3. Whitelaw SE. Ehlers-Danlos syndrome, classical type: case management. Dermatol Nurs 2004; 16(5): 433-6, 449.
  4. Rook A. Genetic Disorder. In: Kumar V, Abbas AK, Fausto N, Robbins SL, Cotran RS, Editors. Robbins and Cotran pathologic basis of disease. Philadelphia: Elsevier Saunders, 2005. p. 155-6.
  5. Parapia LA, Jackson C. Ehlers-Danlos syn-drome-a historical review. Br J Haematol 2008; 141(1): 32-5.
  6. Tschernogobow A. Cutis laxa. Mhft Prakt Der-matol 1892; 14: 76.
  7. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syn-drome. Best Pract Res Clin Rheumatol 2008; 22(1): 165-89.
  8. Beighton P. The Ehlers-Danlos syndrome. London: Heinemann Medical; 1970. p. 1-194.
  9. Beighton P, De Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 1988; 29(3): 581-94.
  10. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998; 77(1): 31-7.
  11. Behrman RE, Kliegman R, Jenson HB. Nelson textbook of pediatrics. Philadelphia: Saunders; 2004. p. 2207-8.
  12. Byers PH. Ehlers-Danlos syndrome: recent ad vances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994; 103(5 Suppl): 47S-52S.
  13. Beighton P, Horan F. Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br 1969; 51(3): 444-53.
  14. Yen JL, Lin SP, Chen MR, Niu DM. Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc 2006; 105(6): 475-80.
  15. Sacheti A, Szemere J, Bernstein B, Tafas T, Schechter N, Tsipouras P. Chronic pain is a manifestation of the Ehlers-Danlos syndrome. J Pain Symptom Manage 1997; 14(2): 88-93.
  16. Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am 1999; 81(2): 225-38.
  17. Nusgens BV, Verellen-Dumoulin C, Hermanns-
  18. Le T, De Paepe A, Nuytinck L, Pierard GE, et al. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet 1992; 1(3): 214-7.
  19. Rook A, Burns T. Rook's textbook of dermatology. 7th ed. Oxford: Wiley-Blackwell; 2004. p. 31-5.
  20. De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 2004; 127(5): 491-500.
  21. Abel MD, Carrasco LR. Ehlers-Danlos syn-drome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 102(5): 582-90.
  22. Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, et al. Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. Prenat Diagn 2006; 26(11): 1081-3.
  23. Champion P, Ryan F. A case of congenital cutis laxa (generalized elastolysis). Can Respir J 2005; 12(3): 151-2.
  24. Shah-Desai SD, Collins AL, Tyers AG. Sur-gical correction of entropion and excess upper eyelid skin in congenital cutis laxa: a case report. Orbit 1999; 18(1): 53-8.
Journal of Isfahan Medical School
Volume 28, Issue 113 - Serial Number 113
September and October 2011
Pages 787-793

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History

  • Receive Date: 29 December 2010
  • Revise Date: 01 November 2024
  • Accept Date: 06 April 2022

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