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benign familial pemphigus (Hailey-Hailey disease)
Epidemiology:
- rare
Pathology:
- disruption of intracellular Ca+2 transport
- defect in keratinocyte cohesion
- suprabasal cell separation (acantholysis) of the epidermis
* image [1]
Genetics:
- autosomal dominant
- associated defects in ATP2C1
- patients lack all isoforms of ATP2C1, except isoform 2
Clinical manifestations:
- pruritic & painful rash
- intermittent & persistent blisters
- blistering in the intertriginous areas
- hyperpigmentation, hypopigmentation, multiple acrochordons, malodorous crust, areas of maceration & erosion (case report) [1]
- involvement of neck & axilla (case report) [1]
- pseudofolliculitis barbae
- seasonal variation, warm weather exacerbation
* images [1,2,3]
Laboratory:
- Herpes simplex DNA
Special laboratory:
- skin biopsy for diagnosis [1]
Complications:
- superimposed bacterial infection or fungal infections
- fatal eczema herpeticum with herpes simplex virus
Differential diagnosis:
- intertrigo
- inverse psoriasis
- seborrheic dermatitis
- erythrasma
- acanthosis nigricans
- Darier disease
- Galli-Galli disease
- autoimmune pemphigus [1]
Management:
- topical corticosteroid & a topical antimicrobial
- triamcinolone (0.1% cream), clindamycin (1% lotion)
- naltrexone 3 mg daily may alleviate disease refractory to other treatments [2]
- laser ablation may provide long-term remission for patients with symptoms refractory to medical management [2]
Interactions
disease interactions
Related
Ca+2-transporting ATPase type 2C member 1; ATPase 2C1; ATP-dependent Ca(2+) pump PMR1 (ATP2C1, KIAA1347, PMR1L, HUSSY-28)
General
genetic disease of the skin (genodermatosis)
pemphigus
Database Correlations
OMIM 169600
References
- Haley A, Mui UM, Tyring SK. (image)
A 58-Year-Old Man With a Macerated Rash of the Neck and Axilla.
JAMA. 2018;319(14):1499-1500. April 10, 2018
PMID: 29634814
https://jamanetwork.com/journals/jama/fullarticle/2677996
- Adusumilli NC, Friedman AJ
Benign Familial Pemphigus
JAMA Dermatol. Published online January 12, 2022
PMID: 35019935
https://jamanetwork.com/journals/jamadermatology/fullarticle/278788
- Harris JB, Werbel T, Saikaly SK
Images in Dermatology
Benign Familial Pemphigus in Skin of Color.
JAMA Dermatol. 2023;159(3):331
PMID: 36630125
https://jamanetwork.com/journals/jamadermatology/fullarticle/2800237