Hailey‐Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride

Condylomata acuminata in a case of Hailey‐Hailey disease with a novel mutation

“…Therefore, the obviously truncated protein may lose function, which explains the early age of onset in our patient (average onset age: 30-40 years) [2,5]. This hypothesis is consistent with the result by Kono et al, who reported a case with only 15 % downstream loss of protein and extremely advanced age of onset [3].…”

“…He was finally diagnosed with Hailey-Hailey disease (HHD) and condylomata acuminata, and dermabrasion was performed that elicited significant improvement ( Figure 1f). The haploinsufficiency of ATP2C1 mutations is regarded as the underlying mechanism of HHD [3,4]. To our knowledge, the frameshift mutation (c.276_277insC) of ATP2C1 has not yet been reported.…”

Generalized Hailey–Hailey disease with flexural keratotic papules: An interesting presentation and remarkable response with minocycline

“…Minocycline is postulated to be effective due to its anticollagenase activity, which helps in suppressing blister formation in HHD patients. It also exerts its anti‐inflammatory effect by inhibiting neutrophil and eosinophil chemotaxis, lymphocytic proliferation apart from having immunomodulating properties (Higashimae et al, ; Kono, Niizawa, Takeichi, Muro, & Akiyama, ). Minocycline has previously been reported to be effective in three cases of Hailey–Hailey disease, out of which in two cases it was used in combination with nicotinamide (Higashimae et al, ; Kono et al, ).…”

“…It also exerts its anti‐inflammatory effect by inhibiting neutrophil and eosinophil chemotaxis, lymphocytic proliferation apart from having immunomodulating properties (Higashimae et al, ; Kono, Niizawa, Takeichi, Muro, & Akiyama, ). Minocycline has previously been reported to be effective in three cases of Hailey–Hailey disease, out of which in two cases it was used in combination with nicotinamide (Higashimae et al, ; Kono et al, ). Upon detailed literature search, we could find only one previous report of clearance of HHD with minocycline monotherapy (Kono et al, ); making ours the second case exhibiting resolution with minocycline as the only therapeutic modality.…”

“…Minocycline has previously been reported to be effective in three cases of Hailey–Hailey disease, out of which in two cases it was used in combination with nicotinamide (Higashimae et al, ; Kono et al, ). Upon detailed literature search, we could find only one previous report of clearance of HHD with minocycline monotherapy (Kono et al, ); making ours the second case exhibiting resolution with minocycline as the only therapeutic modality. To the best of our knowledge, this is the first report demonstrating effectiveness of minocycline alone in such an extensive and unique case of HHD.…”