Hailey-Hailey Disease (HHD) is a rare, chronic skin condition characterized by relapsing episodes and spontaneous remissions, significantly affecting patients’ quality of life, especially in severe cases. Due to its rarity, there are no established evidence-based treatment guidelines or extensive clinical trials. This case report highlights the rapid improvement of HHD in a 55-year-old Filipino woman treated with a combination of 5-fluorouracil and excimer phototherapy, suggesting that this treatment approach may be an effective alternative for managing the disease.

Humans ; Pemphigoid, Bullous ; Pemphigus ; Pemphigus, Benign Familial

Hailey-Hailey disease (HHD) is an uncommon acantholytic disorder of the skin. This is a case of a 64-year-old Filipino female with a chronic history of painful and malodorous intertriginous plaques. Histopathologic evaluation showed overlapping features of pemphigus vulgaris and Hailey-Hailey disease. A negative direct immunofluorescence test clinched the diagnosis of Hailey-Hailey disease. The patient was advised regarding preventive measures and treated with topical antibiotics and corticosteroids with improvement of her lesions.
Pemphigus, Benign Familial ; Fluorescent Antibody Technique, Direct

Female ; Humans ; Middle Aged ; Pemphigus ; diagnosis ; drug therapy ; Pemphigus, Benign Familial ; diagnosis ; drug therapy ; Tacrolimus ; therapeutic use

Papular acantholytic dyskeratosis is a collection of papular skin lesions that occur in the intertriginous and genital area. They show a characteristic histology of focal suprabasal acantholysis that distinguishes it from Hailey-Hailey disease or Darier disease. We describe a 50-year-old man with an asymptomatic papular eruption on the perianal area for several years. Histologically, a biopsy specimen showed diffuse hyperkeratosis and irregular acantholysis throughout the epidermis. We used carbon dioxide laser therapy as a therapeutic option. Despite causing a long and painful healing process, a considerable reduction of the symptoms was achieved. Although we do not know the precise nature or the incidence of this disease, papular acantholytic dyskeratosis should be included in the differential diagnosis of verrucous papules in perineal or perianal areas and carbon dioxide laser may represent a good therapeutic option.
Acantholysis ; Biopsy ; Carbon Dioxide* ; Carbon* ; Darier Disease ; Diagnosis, Differential ; Epidermis ; Humans ; Incidence ; Lasers, Gas* ; Middle Aged ; Pemphigus, Benign Familial ; Skin

No abstract available.
Cryotherapy* ; Pemphigus, Benign Familial*

No abstract available.
Codon, Nonsense* ; Pemphigus, Benign Familial*

No abstract available.
Aminolevulinic Acid* ; Pemphigus, Benign Familial* ; Photochemotherapy*

No abstract available.
Dihydroxycholecalciferols ; Pemphigus, Benign Familial

OBJECTIVETo study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.

METHODSAll exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.

RESULTSWe identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.

CONCLUSIONThe mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.