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Hailey-Hailey Disease
Published in Charles Theisler, Adjuvant Medical Care, 2023
Hailey-Hailey disease, also known as familial benign pemphigus, is an inherited skin disorder. Signs and symptoms include a painful rash, blistering, and erosions in skin folds such as the armpits, groin, neck, under the breasts, and between the but-tocks.1 Symptoms are typically relapsing and remitting and are often worse in summer months due to increased heat, sweating, sunburn, infections, and friction.1,2 The lesions may develop a yellow, crusty, overlying layer. Bacterial overgrowth can cause a bad odor and social isolation in severe cases. Treatment focuses on reducing symptoms and preventing flare-ups.
Nail in dermatological diseases
Published in Archana Singal, Shekhar Neema, Piyush Kumar, Nail Disorders, 2019
Piyush Kumar, Niharika Ranjan Lal
It is noteworthy that nail involvement may occur without other manifestations of Darier’s disease. Also, nail involvement may range from 2–3 nails to all 20 nails.22 In children carrying the gene for Darier’s disease, nail changes may be first to appear and precede skin lesions.24 The differentials for nail changes in Darier’s disease include lichen planus and onychomycosis. Longitudinal red or white streaks may occur in tumors of nail matrix or nail bed. Longitudinal white bands are common in Hailey–Hailey disease (HHD).
Miscellaneous inflammatory diseases
Published in Aimilios Lallas, Enzo Errichetti, Dimitrios Ioannides, Dermoscopy in General Dermatology, 2018
Enzo Errichetti, Aimilios Lallas
Hailey–Hailey disease, also known as familial benign chronic pemphigus, is a rare autosomal dominantly inherited acantholytic skin disorder caused by mutations in the ATP2C1 gene (encoding a calcium pump present on the Golgi apparatus), usually developing in the second to fourth decades of life.23
Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria
Published in Expert Review of Clinical Pharmacology, 2021
Debby Wensink, Margreet A.E.M. Wagenmakers, Janneke G. Langendonk
Afamelanotide is also being investigated for the treatment of diseases other than EPP, like solar urticarial, polymorphic light eruption, vitiligo, and Hailey-Hailey disease. In the future afamelanotide will also be investigated in patients with variegate porphyria, xeroderma pigmentosum, and arterial ischemic stroke. A phase II trial of afamelanotide for solar urticaria showed promising results on reducing the solar urticarial response across a broad spectrum of wavelengths [81]. In studies on afamelanotide treatment, combined with ultraviolet therapy, for vitiligo it resulted in superior and faster regimentation [82]. Afamelanotide was also effective for the treatment of skin lesions in Hailey-Hailey disease, resulting in improved patient reported outcome (SF-36) and clearance of skin lesions, independently of the lesion location [83].
Skin diseases of the vulva: inflammatory, erosive-ulcerating and apocrine gland diseases, zinc and vitamin deficiency, vulvodynia and vestibulodynia
Published in Journal of Obstetrics and Gynaecology, 2018
Freja Lærke Sand, Simon Francis Thomsen
Hailey–Hailey disease or chronic benign familial pemphigus is a rare autosomal dominant genodermatosis with incomplete penetrance characterised by chronic recurrent vesico-bullae mainly affecting the neck, axillae, groynes and vulva (Burge 1992; Wieselthier and Pincus 1993). The disease is caused by a defect in keratinocyte adhesion resulting in acantholytic changes usually seen in young and middle-aged women (Wieselthier and Pincus 1993). Bacterial and yeast infections as well as friction and heat are commonly precipitating factors. Painful and pruritic erythematous plaques with vesicles and flaccid bullae are rapidly replaced by multiple erosions that may crust in the femoral folds and vulva (Figure 12). Isolated Hailey–Hailey disease of the vulva may occur (Figure 13). Superinfection with Staphylococcus aureus or Candida albicans are frequent complications.
Low-dose bisphenol A (BPA)-induced DNA damage and tumorigenic events in MCF-10A cells
Published in Cogent Medicine, 2019
Nasir Jalal, Jing Wei, Yaxin Jiang, Janak L. Pathak, Austin R. Surendranath, Chang Y. Chung
Being a second messenger, imbalance in the cytoplasmic Ca2+ sequestration triggers critical events that lead to tumorigenesis via apoptosis, cell motility or proliferation. Cytoplasmic Ca2+ is partly homeostasized via the secretory pathway of calcium ATPase which has two isoforms SPCA1 and SPCA2. SPCA1 occurs ubiquitously in vertebrates, including Humans, and has orthologs in lower eukaryotes (Missiaen, Dode, Vanoevelen, Raeymaekers, & Wuytack, 2007). SPCA1 (ATP2C1) mutations cause Hailey–Hailey disease that produces stratified epithelium of skin due to loss of intercellular adhesion or Acantholysis (Mascia, Denning, Kopan, & Yuspa, 2012; Missiaen et al., 2004). Both protein isoforms are ATP powered and pump Ca2+ and Mn2+ from cytosol into the lumen of Golgi for protein sorting, processing and glycosylation (Dürr et al., 1998). The siRNA gene silencing of SPCA1 has varying effects on the regulation of calcium-dependent enzymes in MDA MB231 cell line and SPCA1 knockdown in mice causes embryonic lethality (Okunade et al., 2007). SPCA1 inhibition in-vitro alters the cell surface levels of exogenously expressed proteins indicating a functional involvement of SPCA1 in cellular protein trafficking (Lissandron, Podini, Pizzo, & Pozzan, 2010). SPCA1 is a thapsigargin-sensitive intracellular Ca2+ pump found mostly in the Golgi compartment (Sagara, Fernandez-Belda, de Meis, & Inesi, 1992). Contribution of Ca2+ pump to cytosolic Ca2+ signaling in HeLa cells via RNA-mediated interference disrupts the baseline Ca2+ but detectable in the cytoplast (Van Baelen et al., 2003). Moreover, Bis (2-hydroxy-3-tert-butyl-5-methyl-phenyl)-methane is a potent and selective inhibitor of SPCA1 (Lai & Michelangeli, 2012).