Case Report/Case Series |

Malignant Melanoma Arising in the Setting of Epidermolysis Bullosa Simplex:  An Important Distinction From Epidermolysis Bullosa Nevus

Thomas L. Hocker, MD1; Matthew C. Fox, MD2; Jeffrey H. Kozlow, MD3; Joseph V. Gonzalez, DPM4; Tor A. Shwayder, MD5; Lori Lowe, MD1,2; May P. Chan, MD1,2
[+] Author Affiliations
1Department of Pathology, University of Michigan, Ann Arbor
2Department of Dermatology, University of Michigan, Ann Arbor
3Department of Surgery, University of Michigan, Ann Arbor
4Sparrow Wound and Hyperbaric Clinic, Lansing, Michigan
5Department of Dermatology, Henry Ford Hospital, Detroit, Michigan
JAMA Dermatol. 2013;149(10):1195-1198. doi:10.1001/jamadermatol.2013.4833.
Text Size: A A A
Published online

Importance  Patients with epidermolysis bullosa (EB) do not carry a significantly increased risk of melanoma but are prone to developing large, markedly atypical melanocytic nevi (EB nevi), which may mimic melanoma clinically and histologically. Many authors now favor a conservative approach in managing atypical pigmented lesions in patients with EB.

Observations  We present the case of a 30-year-old woman with severe EB simplex who sought care for a large red and black ulcerated plaque. The clinical differential diagnosis included EB nevus and melanoma. An incisional punch biopsy specimen revealed an atypical melanocytic proliferation with focal florid pagetoid spread and involving elongated rete ridges, consistent with invasive acral lentiginous melanoma. The subsequent amputation was confirmatory. Micrometastasis was detected in 1 of 5 sentinel lymph nodes.

Conclusions and Relevance  To our knowledge, this is the first reported case of melanoma arising in EB simplex–affected skin. It highlights the difficulty in differentiating melanoma from an EB nevus. Despite the increasing awareness of EB nevi, a high index of suspicion for melanoma should be maintained, and early biopsy is recommended when evaluating large pigmented lesions in patients with EB.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours


Place holder to copy figure label and caption
Figure 1.
Clinical Photographs of a Large, Atypical Pigmented Lesion on the Patient’s Left Foot and Ankle

A, Lateral view shows an intact epidermolysis bullosa simplex bulla above the ankle and a few smaller vesicles within the pigmented plaque. B, Plantar view of the red and black ulcerated plaque covering the entire heel.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Initial 4-mm Punch Biopsy Specimen

Characteristic basilar clefting of epidermolysis bullosa simplex is present. In addition, there is a contiguous lentiginous proliferation of atypical melanocytes involving elongated rete ridges. Florid pagetoid spread is also noted toward the center of this photomicrograph (hematoxylin-eosin, original magnification ×100).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 3.
Amputation Specimen

Sections from the pigmented plaque show unequivocal acral lentiginous melanoma with areas of prominent epidermolysis bullosa simplex–related basilar clefting (hematoxylin-eosin, original magnification ×40). Higher magnification reveals sheets of markedly atypical melanocytes with mitotic activity (inset, hematoxylin-eosin, original magnification ×600).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 4.
Example of a Classic Epidermolysis Bullosa (EB) Nevus in a 9-Year-Old Girl With EB Simplex

A, Lateral view shows a large, irregular, darkly pigmented patch with multiple satellite lesions. Since the clinical and dermoscopic features of EB nevi overlap significantly with melanoma, a biopsy is often required. A similar-appearing lesion occurring in a patient without EB would be highly suggestive of melanoma, and a biopsy would be advisable. B, Punch biopsy of this EB nevus lacks any features highly suggestive of melanoma, thereby supporting the clinical impression of EB nevus (hematoxylin-eosin, original magnification ×100). Reproduced with permission from Tor A. Shwayder, MD, Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.

Graphic Jump Location




Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

See Also...
Articles Related By Topic
Related Topics
PubMed Articles