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

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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: 23 May 2024
  • Accept Date: 06 April 2022

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