• Users Online: 120
  • Print this page
  • Email this page
Year : 2019  |  Volume : 23  |  Issue : 2  |  Page : 106-108

Epidermolysis bullosa Simplex-Dowling–Meara mimicking epidermolysis bullosa simplex with mottled pigmentation

Department of Dermatology, Changi General Hospital, Singapore

Correspondence Address:
Dr. Wei-Liang Koh
Department of Dermatology, Changi General Hospital, 2 Simei Street 3, Singapore 529889
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_31_19

Get Permissions

Epidermolysis bullosa simplex-Dowling–Meara (EBS-DM) variant is an autosomal dominant blistering genodermatosis due to mutations in genes coding for keratin 5 (K5) or keratin 14 (K14), specifically at the rod domain. Postinflammatory dyspigmentation can arise at sites of blistering, sometimes in a reticulate or mottled configuration. This mimics EBS with mottled pigmentation (EBS-MP), usually due to mutation in the head domain of K5, for which the pigmentation is not preceded by blisters. We report a case of an adult Malay male with recurrent blisters and mottled hyperpigmentation over his trunk and limbs, consistent with EBS-DM clinically, and confirmed on genetic mutation sequencing. Different K5 or K14 mutations, by altering keratinocyte adhesion and interfering with melanin pigment transport, can lead to variable phenotypes of skin fragility and/or hyperpigmentation, possibly modulated by other genetic or environmental factors.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded193    
    Comments [Add]    

Recommend this journal