Hailey-Hailey Disease and Pemphigus Foliaceus; Preview: Practice PATH MD; Call for Case Reports
First Reported Case of Patient with Hailey-Hailey Disease (HHD) Developing Pemphigus Foliaceus
By Christa Super, BS, Garrett Nelson, MD, FAAD, and Sandra Marchese Johnson MD, FAAD
Hailey-Hailey Disease (HDD) is a rare autosomal dominant skin condition discovered in 1939 by the Hailey brothers.1 It is usually observed in the third or fourth decade of life but has been reported at any age. Recent evidence shows HHD is due to a malfunctioning calcium pump.2 Protein SPCA1 regulates this process. Disruption of the level of calcium in the intracellular matrix leads to compromised desmosomes. Patients can suffer painful erosive and crusted skin due to suprabasilar acantholysis of the epidermis.3
Pemphigus foliaceus (PF) is a rare autoimmune disease that has a blistering effect on the skin. The patient’s immune system mistakenly produces antibodies that attack the desmosomes of the cell which then separates keratinocytes. Fluid then fills the separated void and creates a blister. This disease can be induced by drugs or increased exposure to sunlight.3
Case Report
A 61-year-old-female presented to the dermatology clinic in April 2016. She was diagnosed with HHD at the age of 59. The patient also has a strong positive family history of the disease. The condition affects her son and mother. It is reported that most of her family members were diagnosed with HHD in the third decade of life. The patient consulted with numerous dermatologists before her visit to the clinic, but had found minimal relief. Her prior treatments included various oral and topical antibacterial agents, antiviral agents, antifungal agents, and steroidal agents.
A skin biopsy performed at the clinic demonstrated acantholytic dermatosis consistent with pemphigus foliaceus. Acantholytic dermatosis is known for causing a truncal rash consisting of crusted patches (Fig 1, Fig 2, Fig 3 and Fig 4). Direct immunofluorescence revealed intercellular IgG and C3 deposition (Fig 6). Indirect immunofluorescence (IIF) results showed 1:160 titers of IgG antiepithelial cell surface antibodies on monkey esophagus and normal results for other substrates.
What Drives Practice Valuation?
“Whether a practice owner will eventually sell his or her practice to an external party, or work out an internal transfer/sale to other physicians, it is advantageous for an owner to take steps to improve the value of a practice. A practice with strong fundamentals will attract a larger pool of buyers, which increases the value of the practice and the options available to the practice owner,” writes Clint Bundy, Managing Director with Bundy Group, an investment bank based in Charlotte, NC, in the debut of Practice PATH MD.
“The pillars of a strong, valuable practice are stability, profitability and growth,” he adds.
To learn more about practice valuation and gain other valuable tips on practice growth and success, visit PracticePathMD.com in March. Our new digital-only resource will provide guidance for those about to enter practice, those new to practice, and even those with a few years of experience who still need help to Plan, Achieve, and THrive.
The decision was made to treat the patient with systemic prednisone and azathioprine. Prednisone use would be gradually reduced. Within one week, the patient’s condition improved significantly (Fig 5). The patient still continues to improve.
Discussion
After much debate, it was decided that the patient initially suffered from HHD and then later developed pemphigus foliaceus. Her case was of much interest because she is the first patient documented in the literature to have both conditions. It is possible that the patient’s HHD caused a reaction in her body that resulted in epitope unveiling, otherwise known as “epitope spreading.” This occurrence is caused by tissue damage due to a primary inflammatory process. From this primary response, the release and exposure of a previously “sequestered” antigen occurs, leading to a secondary autoimmune response against the newly released antigen.5 HHD would have been the patient’s primary response to have caused the cascade, which possibly led her to develop an autoimmune response. Pemphigus foliaceus contains autoantibodies that bind to a protein called desmoglein-1. This protein is found in desmosomes in the keratinocytes near the upper layer of the epidermis. Normally IgA or IgG autoantibodies are the most commonly found antibodies in PF, which then leads to the disruption of the keratinocytes.6
By gaining information about HHD and PF, physicians can better develop multidimensional treatment plans and better educate patients, especially patients who may be currently suffering from both HHD and PF simultaneously.
Sandra Marchese Johnson MD, FAAD, and Garrett Nelson, MD, FAAD, are board-certified dermatologists at Johnson Dermatology in Fort Smith, AR. Christa Super, BS is s an undergraduate student at the University of Arkansas-Fort Smith.
1. Biolcati G, Aurizi C, Barbieri L, Cialfi S, Screpanti I, Talora C. Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease. Clin Exp Dermatol. 2014 Mar;39(2):168-75. doi: 10.1111/ced.12203. Epub 2013 Oct 25. PubMed PMID: 24256215; PubMed Central PMCID: PMC4255790.
2. Graham Paul M, et al. Familial benign chronic pemphigus (Hailey-Hailey disease) treated with electron beam radiation. JAAD Case Reports, Volume 2 , Issue 2 , 159 - 161
3.Imbernón-Moya, Adrián et al. Pemphigus foliaceus associated with Hypericum perforatum. AAD Case Reports, Volume 2 , Issue 4 , 326 – 328.
4.Hochwalt, P. C., Christensen, K. N., Cantwell, S. R., Hocker, T. L., Otley, C. C., Brewer, J. D., & ... Baum, C. L. (2015). Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes. International Journal Of Dermatology, 54(11), 1309-1314. doi:10.1111/ijd.12991
5.Chan Ls, et al. Epitope spreading: lessons from autoimmune skin diseases. J Invest Dermatol. 1998 Feb;110(2):103-9.
6. Lamb, Steven. “Benign Familial Pemphigus.” DermNet New Zealeand. N.p., 2001. Web. 3 Nov. 2016.
Calling all Dermatology Residents!
The Practical Dermatology® Editorial Board is now accepting submissions for the 2017 and 2018 Resident Resource Center column. The Editorial Board is looking for compelling case studies and original research. Accepted manuscripts will be published in the magazine and online.
Please send all submissions to dmann@bmctoday.com for consideration.
Ready to Claim Your Credits?
You have attempts to pass this post-test. Take your time and review carefully before submitting.
Good luck!
Recommended
- Resident Resource Center
Game On: Medical Student Aims to Transform Learning With MedBattles
- Resident Resource Center
Tinea Incognito, the Great Imitator: Case Reports
Sheryl Hoyer, MD
Christy L. Waterman, MD
Katrina Dovalovsky, MD
Carolina Puyana, MD, MSPH
- Resident Resource Center
Use of Hylenex to Treat Microstomia in CREST Syndrome: A Case Study and Call to Action
Jeffery Kwock, MD
Mason Seely, BS
Amanda Suggs, MD
- Resident Resource Center
Stevens-Johnson Syndrome: A Case Report
Sheryl Hoyer, MD
Yonatan Hirsch, MD
Christy L. Waterman, MD
Marylee A. Braniecki, MD