Two Patients With Hailey-Hailey Disease, Multiple Primary Melanomas, and Other Cancers

Mohr, Melinda R.; Erdag, Gulsun; Shada, Amber L.; Williams, Michael E.; Slingluff, Craig L.; Patterson, James W.

doi:10.1001/archdermatol.2010.445

Cited by 14 publications

(12 citation statements)

References 25 publications

(28 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…4 It has been proposed that disruption or downregulation of some adhesion molecules (eg, desmoglein-1) may contribute to this phenomenon. 9,10 Our case has some similarities to the cases described in the literature, namely for its location, but it also has some peculiarities. 8 In addition, collision of a blister with melanoma has been reported in patients with bullous dermatoses (eg, Hailey-Hailey disease, epidermolysis bullosa), but this does not represent truly bullous melanoma.…”

supporting

confidence: 72%

Acantholytic-Like Pattern in a Recurrent Melanoma Mimicking Acantholytic Squamous Cell Carcinoma

Cardoso

Julião²

2016

The American Journal of Dermatopathology

View full text Add to dashboard Cite

supporting

confidence: 72%

Acantholytic-Like Pattern in a Recurrent Melanoma Mimicking Acantholytic Squamous Cell Carcinoma

Cardoso

Julião²

2016

The American Journal of Dermatopathology

View full text Add to dashboard Cite

“…HHD is associated with the loss of a single copy of ATP2C1, a gene that is likely essential in humans, as more severe phenotypes are found in patients who suffer clonal loss of both copies of the gene. Consistently, mice embryos homozygous for null mutations in ATP2C1 die with defects in neural tube closure, while heterozygotes show susceptibility to squamous cell tumors, a phenotype observed rarely in humans with Hailey-Hailey [4,5]. The gene, located on the long arm of chromosome 3, 3q21-q24 region, encodes the human secretory pathway Ca 2+ /Mn 2+ ATPase, hSPCA1 [6].…”

Section: Introductionmentioning

confidence: 91%

Hypotonic, Acidic Oxidizing Solution Containing Hypochlorous Acid (HClO) as a Potential Treatment of Hailey-Hailey Disease

et al. 2019

View full text Add to dashboard Cite

Hailey–Hailey disease (HHD) is a rare, chronic and recurrent blistering disorder, characterized by erosions occurring primarily in intertriginous regions and histologically by suprabasal acantholysis. Mutation of the Golgi Ca2+-ATPase ATP2C1 has been identified as having a causative role in Hailey–Hailey disease. HHD-derived keratinocytes have increased oxidative-stress that is associated with impaired proliferation and differentiation. Additionally, HHD is characterized by skin lesions that do not heal and by recurrent skin infections, indicating that HHD keratinocytes might not respond well to challenges such as wounding or infection. Hypochlorous acid has been demonstrated in vitro and in vivo to possess properties that rescue both oxidative stress and altered wound repair process. Thus, we investigated the potential effects of a stabilized form of hypochlorous acid (APR-TD012) in an in vitro model of HHD. We found that treatment of ATP2C1-defective keratinocytes with APR-TD012 contributed to upregulation of Nrf2 (nuclear factor (erythroid-derived 2)-like 2). Additionally, APR TD012-treatment restored the defective proliferative capability of siATP2C1-treated keratinocytes. We also found that the APR-TD012 treatment might support wound healing process, due to its ability to modulate the expression of wound healing associated cytokines. These observations suggested that the APR-TD012 might be a potential therapeutic agent for HHD-lesions.

show abstract

“…8 Autoantibodies against keratinocytes have been reported only in 1 case of bullous melanoma that the authors interpreted as an unusual form of "localized paraneoplastic pemphigus." Interestingly, a similar pattern has been described in a melanoma located on the back in a patient with Hailey-Hailey disease.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5][6] In addition to these 6 patients, rare cases of melanoma arising in patients with epidermolysis bullosa or Hailey-Hailey disease have been described, 7,8 as well as 1 case of vesiculobullous metastatic melanoma. To the best of our knowledge, only 6 cases have been reported to date in patients without a concomitant bullous skin disorder.…”

Section: Introductionmentioning

confidence: 99%

Bullous Melanoma

Woltsche

Cota

Fink‐Puches

et al. 2015

The American Journal of Dermatopathology

View full text Add to dashboard Cite

Bullous melanoma represents a rare variant of melanoma characterized by variably large subepidermal, basilar, or suprabasilar blisters. We present 7 cases of bullous melanoma (M:F = 4:3; median age, 57 years; age range, 38-86) located on the heel (n = 2), foot (n = 2), arm (n = 2), and back (n = 1). In 5/7 cases, the bulla was due to dyscohesiveness of basilar or suprabasilar melanocytes with subsequent acantholytic features simulating pemphigus vulgaris or Hailey-Hailey disease, whereas in the last 2 cases a subepidermal bulla without clear-cut relation to the melanocytic complexes was observed. Direct and indirect immunfluorescence studies performed in 4 patients on skin near the original surgical scar (including those with subepidermal bullae) were negative. Measurement of the Breslow index in all 7 cases was affected by the presence of the bulla, and in 5 of them, the TNM classification was different depending on the method of measurement (with or without the bulla). We suggest that the Breslow index in these cases should be measured detracting the thickness of the bulla from the total thickness, but follow-up data on larger numbers of patients are necessary to establish whether the presence of bullous features has any prognostic implication.

show abstract

Two Patients With Hailey-Hailey Disease, Multiple Primary Melanomas, and Other Cancers

Cited by 14 publications

References 25 publications

Acantholytic-Like Pattern in a Recurrent Melanoma Mimicking Acantholytic Squamous Cell Carcinoma

Acantholytic-Like Pattern in a Recurrent Melanoma Mimicking Acantholytic Squamous Cell Carcinoma

Hypotonic, Acidic Oxidizing Solution Containing Hypochlorous Acid (HClO) as a Potential Treatment of Hailey-Hailey Disease

Bullous Melanoma

Contact Info

Product

Resources

About