TY - JOUR
T1 - A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease
AU - Chao, Sheau Chiou
AU - Lee, Julia Yu Yun
AU - Wu, Meng Chi
AU - Hsu, Mark Ming Long
PY - 2012/8
Y1 - 2012/8
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1365-4632.2010.04800.x
DO - 10.1111/j.1365-4632.2010.04800.x
M3 - Article
C2 - 22788811
AN - SCOPUS:84864008280
SN - 0011-9059
VL - 51
SP - 947
EP - 951
JO - International Journal of Dermatology
JF - International Journal of Dermatology
IS - 8
ER -