Management of familial benign chronic pemphigus

Arora, Harleen; Bray, Fleta N.; Cervantes, Jessica; Aizpurua, Leyre A Falto

doi:10.2147/ccid.s89483

Cited by 42 publications

(33 citation statements)

References 64 publications

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“…First-line treatment for Hailey-Hailey disease is topical and should include a topical corticosteroid with or without a topical antimicrobial. 1,2 Hailey-Hailey disease can have an appearance similar to that of acanthosis nigricans in dark-skinned patients, but acanthosis nigricans is typically asymptomatic and unlikely to vary with season. A crusted rash with seasonal variation could suggest seborrheic dermatitis or candidal intertrigo, which can be treated with ketoconazole.…”

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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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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“…Additionally, patients develop lesions refractory to corticosteroids. As lesions became recalcitrant to SOC treatment, several possible treatments have been proposed, including: Botulinum toxin injection and photodynamic therapy [ 8 ]. However, evidence for the above indicated treatments of HHD is limited to case reports, case series, and expert opinion.…”

Section: Introductionmentioning

confidence: 99%

Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease

Ficociello

Zonfrilli

Cialfi

et al. 2018

IJMS

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The term orthodisease defines human disorders in which the pathogenic gene has orthologs in model organism genomes. Yeasts have been instrumental for gaining insights into the molecular basis of many human disorders, particularly those resulting from impaired cellular metabolism. We and others have used yeasts as a model system to study the molecular basis of Hailey-Hailey disease (HHD), a human blistering skin disorder caused by haploinsufficiency of the gene ATP2C1 the orthologous of the yeast gene PMR1. We observed that K. lactis cells defective for PMR1 gene share several biological similarities with HHD derived keratinocytes. Based on the conservation of ATP2C1/PMR1 function from yeast to human, here we used a yeast-based assay to screen for molecules able to influence the pleiotropy associated with PMR1 deletion. We identified six compounds, Kaempferol, Indirubin, Lappaconite, Cyclocytidine, Azomycin and Nalidixic Acid that induced different major shape phenotypes in K. lactis. These include mitochondrial and the cell-wall morphology-related phenotypes. Interestingly, a secondary assay in mammalian cells confirmed activity for Kaempferol. Indeed, this compound was also active on human keratinocytes depleted of ATP2C1 function by siRNA-treatment used as an in-vitro model of HHD. We found that Kaempferol was a potent NRF2 regulator, strongly inducing its expression and its downstream target NQO1. In addition, Kaempferol could decrease oxidative stress of ATP2C1 defective keratinocytes, characterized by reduced NRF2-expression. Our results indicated that the activation of these pathways might provide protection to the HHD-skin cells. As oxidative stress plays pivotal roles in promoting the skin lesions of Hailey-Hailey, the NRF2 pathway could be a viable therapeutic target for HHD.

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“…Immunotherapy', Institut de Recherche Saint Louis, Paris, France; 3 Universit e de Paris, Paris, France; 6 Hematology Laboratory, Saint Louis Hospital, Paris, France; 7 EA3518, Saint Louis Hospital, Paris, France; and 8 Patients affected by HHD typically present between the third and fourth decades of life with disease predominantly affecting intertriginous areas including the lateral aspects of the neck, axillae, umbilicus, inguinal and perianal areas. 2 We describe a case series of three patients with recalcitrant HHD whose clinical findings and symptoms significantly improved with dupilumab.…”

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confidence: 99%

“…Acknowledgments: we would like to thank the patients enrolled in the present study. C. Zimmermann, 1,2,3 M. Boisson, 4 C. Ram-Wolff, 1 A. Sadoux, 4 B. Louveau iD , 2,3,4 M.-D. Vignon-Pennamen, 5 J. Rivet, 5 J.-M. Cayuela, 3,6,7 G. Dobos, 1,2,3 H. Moins-Teisserenc iD , 3,6,8 M. Roelens, 3,8 A. Gruber, 4 C. Lebb e, 1,2,3 M. Bagot iD , 1,2,3 M. Battistella, 2,3,5 S. Mourah 2,3,4 and A. de Masson iD 1,2,3 Acknowledgments: we would like to thank the Pfizer Inflammatory and Immune-mediated Skin Diseases Fellowship. N. Alzahrani iD , 1 J. Grossman-Kranseler, 2 R. Swali iD , 3 K. Fiumara, 4 P. Zancanaro, 2 S. Tyring 5…”

mentioning

confidence: 99%

“…Emerging systemic treatments include oral anticholinergics, magnesium chloride, vitamin D, low-dose naltrexone and apremilast. 5,6 To our knowledge, dupilumab has never been described in the medical literature as a treatment option for HHD. Though promising, further studies are needed to clarify the mechanism and more definitively demonstrate efficacy of dupilumab for the treatment of HHD.…”

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confidence: 99%

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Hailey–Hailey disease treated with dupilumab: a case series

et al. 2021

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+ T-cell lymphoma, and six CD30 + lymphoproliferative disorders (three lymphomatoid papulosis and three anaplastic large-cell lymphomas). In addition, 43 samples from patients with ID were identified.The performance of the HTS TRB technique for CTCL diagnosis was analysed using receiver operating characteristic (ROC) curves on 101 cases of CTCL and 43 of ID. As shown in Figure 1(a, b), the TCF showed the highest diagnostic performance, with an area under curve of 0Á96, vs. 0Á93 for RPF. TCF and RPF values by definite diagnostic categories are shown in Figure 1(c, d).With 5% and 25% TCF thresholds, the specificities for CTCL diagnosis were 95% and 100%, and sensitivity 89% and 50%, respectively. Such a high specificity allows early identification of CTCL in difficult cases. One of our patients had a skin biopsy showing spongiotic dermatitis 2 years before a definite SS diagnosis. Retrospectively, HTS performed at that time already showed a TCF of 59% in skin, which corresponds on the ROC curve to a specificity of 100% and a sensitivity of 84%. Only two patients without CTCL (dermatitis and prurigo) had a TCF > 5% in skin: one died of a stroke and the other is still alive 2 years after the diagnosis. There was a significant Spearman correlation between TCF and blood tumour burden in patients with SS (absolute numbers of CD4 + CD26 À T cells, r = 0Á59, P < 0Á001; CD4 + CD7 À , r = 0Á45, P = 0Á01; CD4 + CD158k + , r = 0Á4, P = 0Á03). Clonality analyses in skin and blood were performed by HTS TRB and PCR of TRG in nine patients with SS. Both techniques identified an identical T-cell clone in all blood-skin couples of samples, except in one blood sample in which a dominant T-cell clone was identified by HTS TRB, identical to the skin, but no dominant Tcell clone was identified by PCR.In conclusion, the TCF of TRB determined by HTS was a robust criterion for CTCL diagnosis, and especially useful for early-stage MF, with 95% specificity and 89% sensitivity at the 5% threshold. This compares with 88% specificity and 72% sensitivity using PCR of TRG. 8 This threshold is identical to that used in the study by Sufficool et al., 7 who used HTS of TRG and found 85% sensitivity for CTCL diagnosis (specificity was not analysed because no cases of ID were included). Rea et al. 8 used HTS TRB clonality score and found 100% specificity and 68% sensitivity at the 0Á175 cutoff. In our dataset, clonality score was less accurate than TCF. Further multicentre prospective studies are needed to validate international criteria for T-cell clonality analysis by HTS of TCR genes in the diagnosis of CTCL.

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Management of familial benign chronic pemphigus

Cited by 42 publications

References 64 publications

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

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

Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease

Hailey–Hailey disease treated with dupilumab: a case series

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