A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease.
Concurrent psoriasis vulgaris and Hailey-Hailey disease is very rare. The clinical and pathologic findings of widespread Hailey-Hailey disease in a 48-year-old woman with pre-existing generalized psoriasis vulgaris were described. In our patient, the vesicular eruption of Hailey-Hailey disease was obscured clinically by the psoriatic lesions. The diagnosis of both diseases was confirmed pathologically. The patient had a total of five skin biopsies performed over the neck, flank area, back, pubic area, and a finger. Acantholytic dyskeratosis, changes suggestive of Hailey-Hailey disease, were found in four specimens, psoriasis in two specimens, and both diseases in one specimen. The diagnosis of Hailey-Hailey disease was further confirmed by detecting a novel splice mutation (832G>A) in the ATP2C1 gene. Our case illustrated that diagnosis of disseminated Hailey-Hailey disease may easily be missed in a patient with a pre-existing generalized pruritic eruption, such as psoriasis. The appearance of eczematous vesicular eruption or eroded intertrigo-like lesions in a patient with pre-existing generalized eruption should raise a suspicion of Hailey-Hailey disease.
Department of Dermatology, College of Medicine, National Cheng-Kung University Hospital, Tainan, Taiwan.
Sheau-Chiou
SC
Chao
Julia Yu-Yun
JY
Lee
Meng-Chi
MC
Wu
Mark Ming-Long
MM
Hsu
D000252:Calcium-Transporting ATPases / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000175:diagnosis / Q000235:genetics*; D011565:Psoriasis / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases