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A 36-year-old man is referred for evaluation and treatment of an intertriginous dermatosis that has been present for the past 4 years. The condition was first diagnosed as genital warts, but did not respond to treatment with cryotherapy administered several months ago. The patient denies any history of systemic disease and does not know of a family history of similar dermatoses. Examination reveals fleshy, soft, confluent vegetations with surrounding erythema, resolving blisters, and erosions. A biopsy of the lesions is performed and reveals hyperkeratosis, suprabasal acantholysis, papillomatosis, and dyskeratotic cells. Immunofluorescence was negative and human papillomavirus (HPV) type 6 DNA was detected by polymerase chain reaction (PCR).
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Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare, autosomal dominant dermatosis.1 Positive family history for the disease is detected in the majority of cases although the condition may arise as a spontaneous mutation.2
Hailey-Hailey is a blistering disorder that affects redundant areas of skin, such as those found in axillary, inguinal, and perianal regions, and is most common in individuals aged 20 to 40 years. Pathogenesis involves mutations of the adenosine triphosphate (ATP)2C1 gene that causes defects in keratinocyte adhesion.3
The disorder is characterized by flaccid blisters on erythematous bases with peripherally extending crusted erosions.1 The verrucoid form is rare and presents with chronic, wet, and foul-smelling vegetation that may be localized to the genital area.4 Association with HPV infection has been reported.5-7
Management of Hailey-Hailey disease is difficult; therapies including antibiotics, retinoids, super-potent topical steroids, and lasers have yielded variable results. Control with both low-dose naltrexone and apremilast, a phosphodiesterase inhibitor, has recently been reported.8,9 Treatment options for genital verrucae include topical podophyllotoxin and imiquimod and in-office procedures such as cryotherapy, electrosurgery, laser ablation, and excision.10
In the case of this patient, Hailey-Hailey disease was suspected based on histopathology, disease location, and peripheral blistering; assay for ATP2C1 gene mutations was not performed.
Malek Ben Slimen, MD, Faten Rabhi, MD, Kahena Jaber, MD, and Mohamed Raouf Dhaou, MD, are from the Department of Dermatology, Military Hospital of Tunis, Tunisia. Stephen Schleicher, MD, is director of the DermDox Center for Dermatology in Pennsylvania, as well as an associate professor of medicine at Commonwealth Medical College and a clinical instructor of dermatology at Arcadia University and Kings College.
References
1. Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992;126(3):275-282.
2. National Center for Advancing Translational Sciences. Hailey-Hailey disease. NIH website. https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease. Updated September 1, 2020. Accessed September 23, 2020.
3. Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump. Hum Mol Genet. 2000;9(7):1131-1140.
4. Langenberg A, Berger TG, Cardelli M, Rodman OG, Estes S, Barron DR. Genital benign chronic pemphigus (Hailey-Hailey disease) presenting as condylomas. J Am Acad Dermatol. 1992;26(6):951-955.
5. Chen MY, Chiu HC, Su LH, Hsiao CH, Chang YJ, YL Hsu. Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. J Eur Acad Dermatol Venereol. 2006;20(10):1356-1357.
6. Chan CC, Thong HY, Chan YC, Liao YH. Human papillomavirus type 5 infection in a patient with Hailey–Hailey disease successfully treated with imiquimod. Br J Dermatol. 2007;156(3):579-581.
7. Luo S, Liu Q. Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update. Clin Exp Dermatol. 2016;41(7):814.
8. Ibrahim O, Hogan SR, Vij A, Fernandez AP. Low-dose naltrexone treatment of familial benign pemphigus (Hailey-Hailey disease). JAMA Dermatol. 2017;153(10:1015-1017.
9. Kieffer J, Le Duff F, Montaudié H, Chiaverini C, Lacour J, Passeron T. Treatment of severe Hailey-Hailey disease With apremilast. JAMA Dermatol. 2018;154(12):1453-1456.
10. Ghadishah D. Condyloma Acuminatum (Genital Warts) Treatment & Management. Medscape. https://emedicine.medscape.com/article/781735-treatment#showall. Updated October 22, 2018. Accessed September 23, 2020.
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