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    1891 results match your criteria Keratosis Follicularis Darier Disease

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    Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.
    NPJ Schizophr 2018 Apr 13;4(1). Epub 2018 Apr 13.
    Department of Molecular Psychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
    Monozygotic twins are assumed to have identical genomes. Based on this assumption, phenotypic discordance in monozygotic twins has been previously attributed to environmental factors. However, recent genomic studies have identified characteristic somatic mutations in monozygotic twins discordant for Darier disease, Van der Woude syndrome, and Dravet syndrome. Read More

    A case of segmental Darier disease treated with doxycycline monotherapy.
    Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.
    Division of Dermatology, The Ohio State University Wexner Medical Center, Columbus, Ohio.
    Darier disease is a rare autosomal dominant disorder that results from a mutation in the gene coding for the endoplasmic reticulum membrane calcium pump Ca2+-ATPase type 2 (SERCA2), leading to compromised intercellular adhesion. Patients typically present in the first two decades of life with keratotic, greasy papules in a seborrheic distribution. Segmental Darier disease is a variant with localized disease that follows Blaschko lines. Read More

    Preliminary observations of a new approach to tissue repair: periphearal blood mononuclear cells in platelet- rich plasma injected into skin graft area.
    Exp Dermatol 2018 Mar 31. Epub 2018 Mar 31.
    Intensive Care Dermatology and Burn Center, Regional Skin Bank of Emilia-Romagna and Cell Factory, Bufalini Hospital, Cesena, Italy.
    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. Read More

    A Darier disease mutation relieves kinetic constraints imposed by the tail of sarco(endo)plasmic reticulum Ca-ATPase 2b.
    J Biol Chem 2018 Mar 23;293(11):3880-3889. Epub 2018 Jan 23.
    From the Department of Biomedicine, Aarhus University, DK-8000 Aarhus C, Denmark and
    The sarco(endo)plasmic reticulum Ca-ATPase (SERCA) 2b isoform possesses an extended C terminus (SERCA2b tail) forming an 11th transmembrane (TM) helix, which slows conformational changes of the Ca-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 Ca pump compared with the corresponding mutations of the SERCA2a and SERCA1a isoforms, lacking the SERCA2b tail. Read More

    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.
    J Nippon Med Sch 2017 ;84(5):246-250
    Department of Dermatology, Nippon Medical School Hospital.
    Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca 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. Read More

    The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond.
    Br J Dermatol 2017 Oct 31. Epub 2017 Oct 31.
    Department of Dermatology, University of California, Irvine, Irvine, CA, U.S.A.
    There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. This review aims to provide an update on the non-neuronal and nonmuscular effects of botulinum toxin. We critically analysed recent reports on the structure and function of cellular signalling systems subserving biological effects of BoNTs. Read More

    Grover's disease: dermoscopy, reflectance confocal microscopy and histopathological correlation.
    Dermatol Pract Concept 2017 Jul 31;7(3):51-54. Epub 2017 Jul 31.
    Dermatology Clinic, University of Catania, Italy.
    Grover's disease is a benign condition of unknown origin characterized clinically by an erythematous papulovesicular eruption and histopathologically by intraepidermal clefting and four different patterns of acantholysis: Darier-like, pemphigus-like, spongiotic, and Hailey-Hailey-like. A case of a 54-year-old female affected by Grover's disease and showing a Darier-like histopathological pattern is described. Polarized light dermoscopy (PLD) revealed the presence of polygonal, star-like shaped yellowish/brownish areas of various sizes surrounded by a thin whitish halo. Read More

    Spectrum of orocutaneous disease associations: Genodermatoses and inflammatory conditions.
    J Am Acad Dermatol 2017 Nov;77(5):809-830
    Division of Dermatology, Baylor University Medical Center, Dallas, Texas. Electronic address:
    The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant oral findings of which the dermatologist must be aware. The second article in this continuing medical education series reviews inflammatory orocutaneous conditions and a number of genodermatoses. Read More

    Novel mutations in Darier disease and association to self-reported disease severity.
    PLoS One 2017 13;12(10):e0186356. Epub 2017 Oct 13.
    Dermatology and Venereology Unit, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.
    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. Read More

    Darier disease: A rare genodermatosis.
    J Oral Maxillofac Pathol 2017 May-Aug;21(2):321
    Department of Oral Pathology and Microbiology, Chhattisgarh Dental College and Research Institute, Rajnandgaon, Chhattisgarh, India.
    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 Ca 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. Read More

    Rare ocular manifestations in keratosis follicularis (Darier-White disease).
    Indian J Ophthalmol 2017 Sep;65(9):874-876
    Department of Ophthalmology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India.
    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. Read More

    Dermatosis papular acantolítica de la vulva con buena respuesta a tacrólimus tópico.
    Dermatol Online J 2017 Apr 15;23(4). Epub 2017 Apr 15.
    Servicio de Dermatología, Hospital General Universitario de Ciudad Real, España.
    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. Read More

    Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.
    Am J Med Genet A 2017 May 12. Epub 2017 May 12.
    University of Newcastle, NSW, Australia.
    Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p. Read More

    Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf.
    Am J Dermatopathol 2017 May;39(5):370-373
    *Divisions of Dermatopathology and Dermatology, Department of Pathology, Albany Medical College, Albany, NY; †Division of Dermatology, Upper Hudson Valley Dermatology, Castleton, NY; and ‡Departments of Dermatology, Microbiology/Medical Genetics, and Internal Medicine, University of Texas Health Science Center, Houston, TX.
    The co-existence of Darier disease (DD) and acrokeratosis verruciformis of Hopf (AKV) has been noted for decades and the relationship between the 2 entities remains controversial. Although, it has been shown that both diseases are associated with mutations in ATPA2 gene, it is yet to be determined if they are the same disease, or separate but allelic, or interlinked in some other fashion. Herein, the authors report the case of a 13-year-old girl presenting with shiny flat-topped verruca plana-like papules, on the dorsal hands and feet and red-brown crusted papules on her forehead and along the sides of her neck. Read More

    Acral Hemorrhagic Darier Disease.
    Actas Dermosifiliogr 2017 Sep 10;108(7):e49-e52. Epub 2017 Apr 10.
    Servicio de Anatomía Patológica, Hospital General Universitario de Ciudad Real, Ciudad Real, España.
    Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Read More

    [Dermatoses and herpes superinfection: A retrospective study of 34 cases].
    Ann Dermatol Venereol 2017 Mar 24;144(3):176-181. Epub 2017 Feb 24.
    Service de dermatologie, hôpital Cochin, université Paris Descartes, Assistance publique-Hôpitaux de Paris (AP-HP), pavillon Tarnier, 89, rue d'Assas, 75006 Paris, France. Electronic address:
    Background: Although varicelliform Kaposi eruption is a well-known complication of dermatoses, it has not been widely investigated.

    Aim: To investigate features of dermatoses and herpes superinfection in patients hospitalized in a dermatology department.

    Patients And Methods: We performed a single-centre, retrospective study between 2008 and 2014 that included cases of Kaposi varicelliform eruptions defined by positive PCR of an unconventional site of herpetic recurrence in a setting of active dermatitis. Read More

    ER-to-Golgi blockade of nascent desmosomal cadherins in SERCA2-inhibited keratinocytes: Implications for Darier's disease.
    Traffic 2017 04 28;18(4):232-241. Epub 2017 Feb 28.
    Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    Darier's disease (DD) is an autosomal dominantly inherited skin disorder caused by mutations in sarco/endoplasmic reticulum Ca -ATPase 2 (SERCA2), a Ca pump that transports Ca from the cytosol to the endoplasmic reticulum (ER). Loss of desmosomes and keratinocyte cohesion is a characteristic feature of DD. Desmosomal cadherins (DC) are Ca -dependent transmembrane adhesion proteins of desmosomes, which are mislocalized in the lesional but not perilesional skin of DD. Read More

    Bullous, pseudobullous, & pustular dermatoses.
    Semin Diagn Pathol 2017 May 14;34(3):250-260. Epub 2016 Dec 14.
    Section of Dermatopathology, Division of Surgical Pathology & Cytopathology, University of Virginia Medical Center, Charlottesville, VA, United States. Electronic address:
    Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Read More

    The parathyroid hormone family member TIP39 interacts with sarco/endoplasmic reticulum Ca - ATPase activity by influencing calcium homoeostasis.
    Exp Dermatol 2017 Sep 21;26(9):792-797. Epub 2017 Apr 21.
    Department of Dermatology, University of California San Diego, La Jolla, CA, USA.
    Darier disease (DD) is a genetic skin disease that is associated with mutations in the ATP2A2 gene encoding the type 2 sarco/endoplasmic reticulum (ER) Ca - ATPase (SERCA2). Mutations of this gene result in alterations of calcium homoeostasis, abnormal epidermal adhesion and dyskeratosis. Silencing of ATP2A2 in monolayer cell culture of keratinocytes reduces desmoplakin expression at the borders of cells and impacts cell adhesion. Read More

    Acantholytic dermatosis of the vagina: the diagnostic challenge of acantholytic disease in the genital region.
    Clin Exp Dermatol 2017 Mar 4;42(2):189-191. Epub 2017 Jan 4.
    Department of Dermatology, Whipps Cross University Hospital, Barts Health NHS Trust, London, UK.
    We report the case of a 24-year-old woman with an 8-month history of deep pelvic pain and postcoital bleeding. Examination revealed desquamation of the vaginal epithelium with tender fissured plaques in the vagina, initially thought to be vaginal intraepithelial neoplasia. Histology showed squamous mucosa with suprabasal acantholysis and hyperkeratosis, and no evidence of viral infection, dysplasia or malignancy. Read More

    Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
    Hum Mutat 2017 Apr 15;38(4):343-356. Epub 2017 Feb 15.
    Departments of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
    The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. Read More

    Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias.
    J Am Acad Dermatol 2016 Dec;75(6):1101-1117
    Department of Dermatology, University of British Columbia, Vancouver, British Columbia, Canada; Department of Dermatology, New York University, New York, New York.
    Primary cicatricial alopecias can be frustrating for both patients and physicians. Proper diagnosis guides more successful management of these challenging conditions. Part II will cover the remaining lymphocytic primary cicatricial alopecias, which include pseudopelade of Brocq, central centrifugal cicatricial alopecia, alopecia mucinosa, and keratosis follicularis spinulosa decalvans. Read More

    Acrokeratosis verruciformis of Hopf - Case report.
    An Bras Dermatol 2016 Sep-Oct;91(5):639-641
    Instituto Lauro de Souza Lima (ILSL) - Bauru, SP, Brazil.
    A 54 year-old woman with a 3-year history of rheumatoid arthritis (RA) consulted us because of weight loss, fever and skin eruption. On physical examination, erythematous plaques with a pseudo-vesicular appearance were seen on the back of both shoulders. Histological examination was consistent with rheumatoid neutrophilic dermatosis (RND). Read More

    Exacerbation of Darier Disease under Interferon-α-2a Therapy with Clinical Signs of Lichen Nitidus.
    Case Rep Dermatol 2016 May-Aug;8(2):218-223. Epub 2016 Aug 16.
    Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Dessau, Germany.
    Darier disease/dyskeratosis follicularis is a genodermatosis characterized by brown, oily keratotic papules and plaques in the seborrheic areas of the face and chest. Responsible for the disease are mutations in the gene, encoding SERCA2, a calcium pump of the sarco-/endoplasmic reticulum. Mechanical trauma, heat, humidity, ultraviolet B radiation, oral corticosteroids and lithium are known trigger factors of the disorder. Read More

    Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features.
    Clin Exp Dermatol 2016 Oct;41(7):761-3
    Department of Pathology, Dicle University, Diyarbakir Faculty of Medicine, Turkey.
    The relationship between acrokeratosis verruciformis (AVH; also known as Hopf disease) and Darier disease (DD) has been debated for several decades. There is still substantial controversy over the characterization and association of AVH with DD. Certain histopathological features overlapping with those of DD have been demonstrated in patients with AVH. Read More

    Nilontinib induced keratosis pilaris atrophicans.
    Dermatol Online J 2016 Aug 15;22(8). Epub 2016 Aug 15.
    Department of Dermatology, Cleveland Clinic Foundation.
    Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Read More

    Segmental lesions along blaschko´s lines in an elderly man.
    Dermatol Online J 2016 Jun 15;22(6). Epub 2016 Jun 15.
    Department of Dermatology, Hospital 12 de Octubre, Madrid, Spain.
    Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple keratotic and crusted papules over seborrheic areas, along with a variable involvement of oral mucosa, palmoplantar region, and nails. Segmental subtypes (type 1 and 2) are uncommon clinically limited forms of DD that usually present at middle age with few cutaneous lesions following Blaschko´s lines. We report a case of extensive multi segmental DD type 1 that developed in an elderly man, an unusual clinical onset of DD that dermatologists should bear in mind. Read More

    Diclofenac sodium 3% gel for darier's disease treatment.
    Dermatol Online J 2016 Apr 18;22(4). Epub 2016 Apr 18.
    Hospital Universitario Doctor Peset, Valencia.
    Background: Darier's disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome 12q23-24. The lesions of DD are skin-coloured to brown, hyperkeratotic, greasy papules that coalesce into warty plaques commonly involving the seborrhoeic areas of the trunk and face, especially the scalp margins, temples, ears, and scalp. The most common complaint associated with the disease is itching, with exacerbations attributed to heat, sweating, sunlight, lithium, steroid therapy, stress, and menstruation

    Objectives: We report a patient with DD treated with topical diclofenac sodium 3%. Read More

    Dermoscopy in General Dermatology: A Practical Overview.
    Dermatol Ther (Heidelb) 2016 Dec 9;6(4):471-507. Epub 2016 Sep 9.
    Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.
    Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. Read More

    [Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Oct;33(5):641-4
    Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China; Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, Jiangsu 214023, China; Department of Phototherapy, Shanghai Skin Disease Hospital, Shanghai 200443, China. Email:
    Objective: To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.

    Methods: Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. Read More

    Inframammary Dermatitis: A Case of Localized Late-Onset Darier's Disease.
    Case Rep Dermatol 2016 May-Aug;8(2):189-92. Epub 2016 Jul 12.
    Rare Diseases and Periodic Fevers Research Centre, Department of Internal Medicine, Rome, Italy.
    Darier's disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in multiple seborrheic areas of the body. Localized DD (LDD) is a clinical variant, first described by Kreibich in 1906; only a few cases are reported in the literature. Read More

    A Bullous Flare of a Hyperkeratotic Affair: A Case Report.
    J Cutan Med Surg 2016 Nov 12;20(6):589-591. Epub 2016 Jul 12.
    Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
    Background: Darier's disease is an autosomal dominant genodermatosis typified by hyperkeratotic papules and plaques in a predominately seborrheic distribution. The vesiculo-bullous variant of Darier's disease is rare. Several previously reported cases have demonstrated clinical and microscopic features resembling familial benign chronic pemphigus or Hailey-Hailey disease. Read More

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