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https://www.readbyqxmd.com/read/29761773/-dyskeratosis-follicularis
#1
Inger Lily Dorf, Mette Sommerlund, Ann-Bine Skytte, Uffe Koppelhus
Dyskeratosis follicularis (or Darier's disease) is a genetic skin disease with an autosomal dominant inheritance and a prevalence of 1:100,000-1:35,000. Mutations in the gene ATP2A2 encoding the Ca2+-ATPase SERCA2 in the endoplasmatic reticulum lead to acantholysis and dyskeratosis in the epidermis, nails and mucosal membranes with resultant brown-yellow coloured, often infested skin papules and nail changes. The newly established Danish database for genodermatoses is embarking on an extensive registration of all Danish patients with Darier's disease...
May 7, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29756235/long-term-safety-and-efficacy-of-continuous-acitretin-monotherapy-for-three-children-with-different-severe-hyperkeratotic-disorders-in-china
#2
Jingyao Liang, Pingjiao Chen, Huiheng Chen, Xin Tian, Zhenguang Wu, Sanqan Zhang, Changxing Li, Xibao Zhang
Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier's disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0...
May 14, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29732042/inflammatory-myopathies-in-a-patient-with-darier-disease-a-possible-association
#3
Kaveh Gharaei Nejad, Hojat Eftekhari, Rana Rafiei, Abbas Darjani, Narges Alizadeh
Background: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in the literature. Case presentation: The patient is a 59-year-old female, a known case of DD, who developed proximal muscle weakness 2 weeks prior to admission. Elevated muscle-enzymes, as well as typical electromyographic and radiologic confirmed the diagnosis of IM...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29687067/clinicopathologic-findings-of-guttate-leukoderma-in-darier-disease-a-helpful-diagnostic-feature
#4
Jennifer Nicole Harb, Kiran Motaparthi
No abstract text is available yet for this article.
April 2018: JAAD Case Reports
https://www.readbyqxmd.com/read/29667928/skin-cells-prefer-a-slower-calcium-pump
#5
Seth L Robia, Howard S Young
Naturally occurring mutations of a calcium ion transporter can cause a skin condition known as Darier's disease. In this issue of JBC, Mikkelsen et al. describe a particularly interesting Darier's mutation that alters calcium transport by disrupting a kinetic braking mechanism that is unique to the SERCA2b calcium pump isoform. The study provides new insight into the intrinsic regulation of this transporter and reveals how disruption of regulation can lead to disease in Darier's patients.
March 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29663107/the-serca2-a-gatekeeper-of-neuronal-calcium-homeostasis-in-the-brain
#6
REVIEW
Aikaterini Britzolaki, Joseph Saurine, Emily Flaherty, Connor Thelen, Pothitos M Pitychoutis
Calcium (Ca2+ ) ions are prominent cell signaling regulators that carry information for a variety of cellular processes and are critical for neuronal survival and function. Furthermore, Ca2+ acts as a prominent second messenger that modulates divergent intracellular cascades in the nerve cells. Therefore, nerve cells have developed intricate Ca2+ signaling pathways to couple the Ca2+ signal to their biochemical machinery. Notably, intracellular Ca2+ homeostasis greatly relies on the rapid redistribution of Ca2+ ions into the diverse subcellular organelles which serve as Ca2+ stores, including the endoplasmic reticulum (ER)...
April 16, 2018: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/29604139/preliminary-observations-of-a-new-approach-to-tissue-repair-periphearal-blood-mononuclear-cells-in-platelet-rich-plasma-injected-into-skin-graft-area
#7
Catuscia Orlandi, Elena Bondioli, Michela Venturi, Davide Melandri
Our purpose was accelerating the physiologic wound healing, stimulating tissue regeneration and the reparative tissue processes in resistant skin ulcers as in a case of an erosive lichen planus of the soles and after a surgical treatment as for severe Darier disease. The challenge was to establish an effective therapy to enhance tissue healing by the injection of a mixture of peripheral blood mononuclear cells (PB-MNCs) and platelet-rich plasma (PRP) into a skin autograft area. This new perioperative biotechnological approach enriches PRP with the effects of PB-MNCs...
March 31, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29460435/topical-pimecrolimus-for-paediatric-cutaneous-mastocytosis
#8
J Mashiah, A Harel, C Bodemer, S Hadj-Rabia, I Goldberg, E Sprecher, A Kutz
BACKGROUND: Most cases of paediatric cutaneous mastocytosis (CM) occur before the age of 2 years, and regression occurs in only 67% of children. Given the absence of any specific therapy, CM is usually treated symptomatically. A few publications have reported the beneficial effect of calcineurin inhibitors for CM. AIM: We sought to evaluate the clinical effectiveness and safety profile of topical pimecrolimus cream for the treatment of CM. METHODS: We performed a retrospective study of all diagnosed cases of CM treated with topical pimecrolimus 1% cream between 2013 and 2015...
February 20, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29441305/familial-case-of-darier-disease-with-guttate-leukoderma-a-case-series-from-india
#9
Naveen Kumar Kansal, Neirita Hazarika, Shalinee Rao
No abstract text is available yet for this article.
January 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29363575/a-darier-disease-mutation-relieves-kinetic-constraints-imposed-by-the-tail-of-sarco-endo-plasmic-reticulum-ca-2-atpase-2b
#10
Stine A Mikkelsen, Peter Vangheluwe, Jens Peter Andersen
The sarco(endo)plasmic reticulum Ca2+ -ATPase (SERCA) 2b isoform possesses an extended C terminus (SERCA2b tail) forming an 11th transmembrane (TM) helix, which slows conformational changes of the Ca2+ -pump reaction cycle. Here, we report that a Darier disease (DD) mutation of SERCA2b that changes a glutamate to a lysine in the cytoplasmic loop between TM8 and TM9 (E917K) relieves these kinetic constraints. We analyzed the effects of this mutation on the overall reaction and the individual partial reactions of the Ca2+ pump compared with the corresponding mutations of the SERCA2a and SERCA1a isoforms, lacking the SERCA2b tail...
March 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29142187/an-atp2a2-missense-mutation-in-a-japanese-family-with-darier-disease-a-case-report-and-review-of-the-japanese-darier-disease-patients-with-atp2a2-mutations
#11
REVIEW
Min Li, Naoyuki Higashi, Hajime Nakano, Hidehisa Saeki
Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in a few families with DD. We herein report a classic Japanese DD case with a previously described mutation (p.C560R) in ATP2A2. In Japan, 26 mutations in the ATP2A2 gene in 7 pedigrees and 19 sporadic cases with DD have been reported, among which one pedigree and one sporadic case were accompanied by neuropsychiatric symptoms...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29141083/vegetating-darier-disease-treated-with-botulinum-toxin
#12
Lidia Ossorio-García, Cristina Collantes-Rodríguez, Isabel Villegas-Romero, Mario Linares-Barrios
No abstract text is available yet for this article.
January 1, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29090468/clinicopathologic-characteristics-of-early-onset-becker-s-nevus-in-korean-children-and-adolescents
#13
Young J Kim, Mi R Roh, Ji H Lee, Jung I Na, Joo Y Ko, Joon M Jung, Jong H Lee, Sung E Chang
BACKGROUND: Becker's nevus (BN) presents as a hairy patch or plaque with or without proliferation of the dermal smooth muscles. BN has been described as acquired as found in a similar entity, congenital smooth muscle hamartoma (CSMH). This study was aimed at evaluating the clinicopathological aspects of BN in Korean cases in differential diagnosis with CSMH. METHODS: We performed a retrospective study of 103 patients histopathologically diagnosed as having BN or CSMH...
January 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29028823/novel-mutations-in-darier-disease-and-association-to-self-reported-disease-severity
#14
Ivone U S Leong, Alexander Stuckey, Tara Ahanian, Martin Cederlöf, Jakob D Wikstrom
Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and is caused by mutations in the ATP2A2 gene, which encodes to the sarco/endoplasmic reticulum calcium-ATPase isoform 2 that pumps calcium into the endoplasmic reticulum. Although many ATP2A2 variants have been described, it is not known if genotype correlates with phenotype, which could be important for prognosis and treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28932344/-a-pink-nodule-on-the-face
#15
Amina Kissou, Badredine Hassam
We report the case of a 32-year old female patient, with no notable medical history, requiring dermatology consultation for evaluation of a nodule on her right cheek which had evolved over the past 10 years. Clinical examination showed a reddish dermal-based nodule with a smooth surface. The lesion measured 1cm in diameter and was located at the level of the right cheek (A). There was no adenopathy and the remainder of the clinical examination was normal. The patient underwent skin biopsy which showed tumor proliferation composed of fusiform cells with poorly limited eosinophilic cytoplasm and lightly atypical elongated nuclei without mitosis and with mononuclear inflammatory cell infiltrate at the level of the dermis...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28932054/darier-disease-a-rare-genodermatosis
#16
Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination...
May 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28905836/rare-ocular-manifestations-in-keratosis-follicularis-darier-white-disease
#17
Savitha H Kanakpur, Divya Upendra Caculo
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifestations that have not been reported so far to the best of our knowledge.
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28764581/skin-diseases-of-the-vulva-inflammatory-erosive-ulcerating-and-apocrine-gland-diseases-zinc-and-vitamin-deficiency-vulvodynia-and-vestibulodynia
#18
Freja Lærke Sand, Simon Francis Thomsen
Chronic, inflammatory and ulcerating mucocutaneous diseases that can affect the vulvar area are reviewed: lichen sclerosus, lichen planus, plasma cell vulvitis, complex aphthosis, Behcet's disease, pyoderma gangrenosum, metastatic Crohn's disease, dyskeratotic skin diseases (Hailey-Hailey disease and Darier's disease), autoimmune bullous diseases (mucous membrane pemphigoid and pemphigus vulgaris) and hidradenitis suppurativa. Also, vulvodynia and vestibulodynia, zinc and vitamin B deficiency are described.
February 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28541878/dermatosis-papular-acantol%C3%A3-tica-de-la-vulva-con-buena-respuesta-a-tacr%C3%A3-limus-t%C3%A3-pico
#19
Miguel Angel Flores-Terry, Pamela Zamberk Majlis, Monserrat Franco-Muñoz, Elena Vera-Iglesias, Mónica García-Arpa, Francisco Martín-Dávila
Papular acantholytic dermatosis of the vulva is a rare, chronic disorder and is an entity that remains to be fully understood. It shares clinical and histopathological overlap with Darier disease and Hailey-Hailey disease. We describe a 30-year-old woman with papular acantholytic dermatosis of the vulva. The lesions consisted of whitish papules and erosions on the labia majora. Histologically, there was hyperkeratosis and focal parakeratosis with acantholytic and dyskeratotic cells. She did not respond completely to topical steroids but clinical improvement occurred after the use of topical tacrolimus...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28507500/the-coexistence-of-darier-s-disease-and-hailey-hailey-disease-symptoms
#20
Katarzyna A Tomaszewska, Zofia Gerlicz-Kowalczuk, Magdalena Kręgiel, Marcin Noweta, Katarzyna Płużańka-Srebrzyńska, Anna Żuchowska, Andrzej Kaszuba
No abstract text is available yet for this article.
April 2017: Postȩpy Dermatologii i Alergologii
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