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Original Article | Volume 12 Issue 7 (JULY, 2026) | Pages 118 - 120
Hailey Hailey disease – A case report
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1
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016
2
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016,
3
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016.
4
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016"
5
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016:
6
Department of Pathology, Pragjyotishpur Medical College and Hospital – Birubari, Guwahati-781016'
Under a Creative Commons license
Open Access
Received
May 25, 2026
Revised
June 11, 2026
Accepted
June 26, 2026
Published
July 26, 2026
Abstract
Background: Hailey-Hailey disease (HHD), also known as benign familial pemphigus, is a rare autosomal dominant genodermatosis characterized by recurrent vesicles, blisters, erosions, and maceration, predominantly involving intertriginous areas. It is associated with mutations in the ATP2C1 gene on chromosome 3q21–q24, resulting in impaired calcium homeostasis and defective keratinocyte adhesion. Heat, friction, sweating, and other physical stresses may precipitate or exacerbate lesions. Case Report: A 32-year-old female presented to the Dermatology Outpatient Department with a history of blisters. A skin/soft-tissue biopsy specimen was obtained and submitted for histopathological examination. Microscopy revealed stratified squamous epithelium showing prominent acantholysis at multiple levels, predominantly in the suprabasal region, producing the characteristic “dilapidated brick wall” appearance. The dermal papillae were elongated and lined by a single layer of basal cells. Occasional dyskeratotic cells/scales and mild mixed inflammatory cell infiltration were also observed in the subepithelial dermis. Based on the characteristic histopathological findings, a diagnosis of Hailey-Hailey disease was made. Conclusion: Hailey-Hailey disease is an uncommon, benign, chronic, and relapsing genodermatosis that may pose a diagnostic challenge because of its variable clinical presentation and resemblance to other blistering and erosive disorders. Recognition of the characteristic suprabasal acantholysis and dilapidated brick-wall appearance on histopathology is important for diagnosis. Awareness of this entity among clinicians and pathologists can facilitate early diagnosis and appropriate management.
Keywords
INTRODUCTION
Hailey Hailey disease is a rare benign chronic genetic disorder characterised by recurrent painful and maloderous blisters and erosions typically in the skin folds like the armpit, groin and under the breast. It is caused by mutations affecting skin adhesion and symptoms are commonly triggered by heat, friction or sweat. In 1939 Hailey brothers first described the disease. They were American dermatologists William Howard Hailey (1898-1967) and Hugh Edward Hailey (1909-1963). They are famous for discovering this disesase. Z Wu in 1925 cited one article reporting Hailey Hailey disease and was treated effectively. W Turczym in 2026 concluded that Hailey Hailey disease remains as a therapeutic challenge due to its chronic relapsing nature. Background A 32y old female presented in the derma opd with blisters. The patient was examined and the soft tissue was taken for biopsy and sent for histopathological examination. The tissue specimen was processed and on microscopic examination showed stratified squamous epithelium with acantholysis at various levels of epidermis, predominantly at the supra basal level showing a dilapidated brick like patterns. Dermal papillae are elongated at places lined by single layer of basal cells. Occasional dyskeratotic scales are also noted. Sub epithelium shows a mild mixed inflammatory cell infiltrations.
METHODOLOGY
This case report was prepared in Pragjyotishpur Medical College and Hospital, a tertiary care hospital established at Birubari Guwahati. This is a new setup and this case was amongst the first few cases of histopathology done in Pragjyotishpur Medical College. The processing of the tissue was done in our laboratory itself and was reported subsequently
RESULTS
It is a benign condition and runs in families. It is genetically induced and mostly affects the middle-aged men and women. The result was confirmed by histopathology. Genetic studies have localized the key mutations to the ATP2C1 gene on chromosome 3q, specifically 3q21-q24. Clinical variability is attributed to haplo insufficiency. This locus encodes the SPCA pumps that are responsible for ATP dependent calcium transport along with the SERCA – proteins that are mutated in Darier disease. The defective pump protein leads to decrease calcium content in the usually calcium rich basal keratinocytes. It is hypothesized that the calcium defect disrupts protein processing leading to failure to process desmosomal proteins and therefore loss of cell-cell adhesion. Keratin expression and keratinocyte differentiation may also be affected. Exacerbation by physical stress such as heat and friction may lead to an additive decrease in SPCA expression.
DISCUSSION
After discovering Hailey Hailey disease in 1939 it was reported worldwide. N Kodali in 2025 mentioned Hailey-Hailey disease and said that it is an autosomal dominant genodermatosis caused by mutation of the ATP 2C1 gene. VM Patel in 2019 cited – Hailey Hailey Disease (HHD) is an autosomal dominant genodermatosis characterised by crusted macerated erosions. AM Porro in 2024 cited Hailey Hailey disease is a rare genodermatosis described in 1939. PR Goswami in 2025 cited 1 – Hailey Hailey disease (HHD) commonly known as benign familial pemphigus. It is a rare genetic disease occurs 1 in 50000 people. Conclusion Hailey Hailey disease is a rare genetic disorder which may occur from early adulthood to middle aged people. It is best treated by corticosteroids and topical ointments. It can occur in those people who are having a genetic preponderence for the disease. Our case is one of such. Conflict of Interest – There is no conflict of interest. Funding – No funding received from anywhere. Permission from Head of the Institute was taken before hand.
REFERENCES
1. Sternberg’s Surgical Pathology 6th Edition vol 1 2. Rosai and Ackermen’s surgical pathology 3. Pathologic basis of disease Robins and Cotran 4. Lever’s Histopathology of Skin – 11th Edition – 2015
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