Skin in Osteogenesis Imperfecta

Anna L. Chien, Euphemia W. Mu, Sewon Kang

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations


The normal structure of skin consists of the epidermis, dermis and subcutaneous fat; these layers protect us from external insults and maintain internal homeostasis. In osteogenesis imperfecta (OI), the normal structure and function of skin are disrupted. Cutaneous manifestations of OI include thinness, translucency, easy bruisability, impaired elasticity and elastosis perforans serpiginosa (EPS). The pathophysiology of OI involves mutations in genes encoding α-chains of type I collagen, the main component of the dermis. Deficiencies in the quantity and structure of collagen are confirmed by histopathologic studies and lead to various presentations of OI. The wide differential for the dermatologic features of OI includes chronologic aging, photoaging, steroid-induced atrophy and other connective tissue diseases. Management of cutaneous symptoms of OI involves gentle skin care, sun protection, off-label use of topical retinoids and targeted treatments for EPS and hyperhidrosis. Future studies are required to determine the efficacy of dermatologic interventions in OI-associated skin conditions.

Original languageEnglish (US)
Title of host publicationOsteogenesis Imperfecta
Subtitle of host publicationA Translational Approach to Brittle Bone Disease
PublisherElsevier Inc.
Number of pages6
ISBN (Print)9780123971654
StatePublished - Sep 2013


  • Collagen
  • Elastosis perforans serpiginosa
  • Hyperhidrosis
  • Osteogenesis imperfecta
  • Photoaging
  • Retinoids

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)


Dive into the research topics of 'Skin in Osteogenesis Imperfecta'. Together they form a unique fingerprint.

Cite this