The coexistence of Darier’s disease and Hailey-Hailey disease symptoms

Tomaszewska, Katarzyna; Gerlicz-Kowalczuk, Zofia; Kręgiel, Magdalena; Noweta, Marcin; Płużańka-Srebrzyńska, Katarzyna; Żuchowska, Anna; Kaszuba, Andrzej

doi:10.5114/ada.2017.67087

Cited by 3 publications

(6 citation statements)

References 11 publications

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“…As Darier disease also has a genetic mutation coding a Calcium pump (SERCA 2), which is comparable to the genetic mutation in Hailey-Hailey disease (hsPCA1), 11 we initiated naltrexone therapy in patients with refractory Darier disease. The concept underlying low-dose naltrexone on the defective calcium pump is not fully understood.…”

Section: Base Linementioning

confidence: 99%

Variable response to low‐dose naltrexone in patients with Darier disease: a case series

Boehmer

Eyerich

Darsow

et al. 2019

Acad Dermatol Venereol

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Background Darier disease is a rare autosomal-dominant genodermatosis with a loss of function of a Ca 2+ -ATPase pump (SERCA2-pump). Clinically, the disease is characterized by red-brown keratotic papules mainly in seborrhoeic areas and has only limited and unsatisfactory treatment options. Previously, low-dose naltrexone was described as a successful treatment option in Hailey-Hailey disease, a genodermatosis with a genetic mutation coding for a similar loss of function of a Ca 2+ -ATPase pump (hSPCA1-pump).Objective To assess the efficacy of low-dose naltrexone as a treatment option in Darier disease. Methods Six patients with biopsy-proven Darier disease (four had severe, one had moderate and one mild clinical manifestations). The patients received off-label therapy with naltrexone [5 mg per os (p.o.)] and magnesium [200 mg p.o.]. Patients were followed up every 4 weeks for minimally 12 weeks. Upon clinical presentation, the disease severity and subjective pain and itch scores were assessed, and standardized photographs were obtained. ResultsThe clinical response to naltrexone varied after 12 weeks. The four patients with severe Darier disease showed worsening after initial improvement during the first 4 weeks, whereas the two patients with a mild to moderate clinical manifestation clearly improved, showing almost full remission after 12 weeks with complete flattening of the keratotic papules.Conclusion Low-dose naltrexone did not have an effect on severe Darier disease compared to Hailey-Hailey disease, but it was beneficial in mild to moderate forms of the disease. Further studies are needed to confirm these observations of variable responses.

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Section: Base Linementioning

confidence: 99%

Variable response to low‐dose naltrexone in patients with Darier disease: a case series

Boehmer

Eyerich

Darsow

et al. 2019

Acad Dermatol Venereol

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“…However, after we reviewed the pathology result and clinical features of the patient, this finding was validated. A previous study once reported that DD and HHD symptoms coexisted in one patient 12 . DD and HHD are both autosomal dominant inherited genodermatoses.…”

Section: Discussionmentioning

confidence: 84%

“…A previous study once reported that DD and HHD symptoms coexisted in one patient. 12 DD and HHD are both autosomal dominant inherited genodermatoses. Mutations in ATP2A2 and ATP2C1 were identified as the pathogenic gene of DD and HHD, respectively.…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing improves mutation detection in Hailey–Hailey disease

Wang

Sun

et al. 2021

The Journal of Dermatology

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Hailey–Hailey disease (HHD) is an autosomal dominant monogenic disease that is defective in the ATP2C1 gene. In previous studies, Sanger sequencing was the main method applied to detect mutations in HHD patients, and no mutations in the ATP2C1 gene were found in 12–55% of those reported. The aim of our study was to carry out whole exome sequencing (WES) for the HHD patients in whom efforts to identify mutations by Sanger sequencing had failed, and to find a new pathogenic gene. WES was performed using genomic DNA from 13 HHD patients and 364 in‐house healthy controls. Potential pathogenic mutations were subsequently validated by Sanger sequencing. As a result, eight mutations in the ATP2C1 gene were identified using WES. In the remaining five patients, we found one mutation in the ATP2A2 gene which was the causal gene of Darier’s disease. Four patients had no detectable mutations in ATP2C1 and the other ATPase genes. Together with our previous study in 2019, the total mutation rate was calculated to be 47/52 (90.4%). These findings demonstrate that WES is capable of improving the mutation detection sensitivity in HHD compared with Sanger sequencing.

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“…1 Dyskeratosis, or premature epithelial keratinization, is usually mild, as opposed to Darier disease, in which dyskeratosis predominates over acantholysis. 8 The dermis may be normal or have mild lymphocytic perivascular inflammatory infiltrate. 7 If there is clinical concern for autoimmune pemphigus, immunofluorescence can be performed.…”

Section: Discussionmentioning

confidence: 99%

“…The appearance of the rash is dependent on blister stage and can vary widely, which can alter the differential diagnosis. The disease typically has no mucous membrane involvement, but fingernails may develop longitudinal white bands . Heat, sweat, friction, and tight clothing often cause symptoms to worsen and the disease to progress, making summertime exacerbations common .…”

Section: Discussionmentioning

confidence: 99%

A 58-Year-Old Man With a Macerated Rash of the Neck and Axilla

Haley

Mui

Tyring

2018

JAMA

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A 58-year-old overweight African American man presented with a 5-year history of a slightly pruritic and painful rash of the right lateral area of the neck and right axilla. It was worse during the summers, and blisters sometimes developed. Emollients were unhelpful. The patient was otherwise healthy. His sister had diabetes mellitus and a similar rash in her axillae. The patient performed indoor manual labor as a maintenance engineer and had no significant sun exposure. Physical examination revealed irregularly thickened skin of the right axilla (Figure 1, left) and right lateral area of the neck (Figure 1, right) containing hyperpigmentation, hypopigmentation, multiple acrochordons (skin tags), malodorous crust, and areas of maceration and erosion. Further examination of the skin revealed pseudofolliculitis barbae in the submental and mandibular regions bilaterally. The nails, oral cavity, and mucosal membranes appeared normal. A biopsy of right axillary skin was performed (Figure 2). Diagnosis Hailey-Hailey disease (benign familial pemphigus)What to Do Next C. Prescribe a topical corticosteroid and a topical antimicrobial

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The coexistence of Darier’s disease and Hailey-Hailey disease symptoms

Cited by 3 publications

References 11 publications

Variable response to low‐dose naltrexone in patients with Darier disease: a case series

Variable response to low‐dose naltrexone in patients with Darier disease: a case series

Whole exome sequencing improves mutation detection in Hailey–Hailey disease

A 58-Year-Old Man With a Macerated Rash of the Neck and Axilla

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