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    1848 results match your criteria Keratosis Follicularis Darier Disease

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    ER-to-Golgi Blockade of Nascent Desmosomal Cadherins in SERCA2-inhibited Keratinocytes: Implications for Darier's Disease.
    Traffic 2017 Feb 3. Epub 2017 Feb 3.
    Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
    Darier's disease (DD) is an autosomal dominantly inherited skin disorder caused by mutations in SERCA2, a Ca(2+) pump that transports Ca(2+) 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(2+) -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 2016 Dec 14. 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(2+) - ATPase activity by influencing calcium homeostasis.
    Exp Dermatol 2017 Jan 17. Epub 2017 Jan 17.
    Department of Dermatology, University of California San Diego, La Jolla, CA, 92093.
    Darier disease (DD) is a genetic skin disease that is associated with mutations in the ATP2A2 gene encoding the type 2 sarco/endoplasmic reticulum Ca(2+) -ATPase (SERCA2). Mutations of this gene result in alterations of calcium homeostasis, 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 2016 Dec 30. Epub 2016 Dec 30.
    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

    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 ATP2A2 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

    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

    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 Report of Two Patients with Darier Disease and Hidradenitis Suppurativa.
    Pediatr Dermatol 2016 Jul 10;33(4):e265-6. Epub 2016 Jun 10.
    Department of Dermatology, University of California, Davis, Sacramento, California.
    We report two unique cases of patients with Darier disease and hidradenitis suppurativa. Although it is unknown whether there is a connection between the two diseases, it is possible that an interaction between sarcoendoplasmic reticulum calcium transport ATPase and Notch homolog 1, translocation-associated (Drosophila) caused both diseases in these individuals. Read More

    Fractional Carbon Dioxide Laser for Keratosis Pilaris: A Single-Blind, Randomized, Comparative Study.
    Biomed Res Int 2016 9;2016:1928540. Epub 2016 May 9.
    Division of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
    Objective. Keratosis pilaris (KP) is a common condition which can frequently be cosmetically disturbing. Topical treatments can be used with limited efficacy. Read More

    Papular acantholytic dyskeratosis of the anogenital and genitocrural area: case series and review of the literature.
    J Cutan Pathol 2016 Sep 1;43(9):749-58. Epub 2016 Jun 1.
    Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
    Background: Papular acantholytic dyskeratosis (PAD) of the anogenital/genitocrural area is described as a rare distinct clinicopathological entity known to dermatopathologists, although its characteristic histopathologic pattern resembles both Hailey-Hailey disease and Darier disease. The objective of this study is to describe the clinical characteristics, histopathologic features and response to treatment of PAD.

    Methods: We report in detail six cases of PAD. Read More

    Kyrle's Disease in a Patient with Delusions of Parasitosis.
    Rom J Intern Med 2016 Jan-Mar;54(1):66-9
    Acquired perforating disorders are a group of uncommon skin conditions characterized by transepidermal extrusion of altered dermal material, most often associated with diabetes mellitus and chronic kidney failure. Delusional parasitosis is a primary psychiatric disorder in which affected patients have fixed, false beliefs that their skin is infested by parasites, in the absence of any evidence supporting their statements. A 69 year old malepatient addressed the Dermatology Department for a skin eruption consisting of multiple umbilicated keratotic papules with a generalized distribution. Read More

    Novel allelic mutations in murine Serca2 induce differential development of squamous cell tumors.
    Biochem Biophys Res Commun 2016 Aug 27;476(4):175-82. Epub 2016 Apr 27.
    Team for Advanced Development and Evaluation of Human Disease Models, Riken BioResource Center (BRC), Tsukuba, Ibaraki, Japan; Department of Cell Biology, Cancer Institute, The Japanese Foundation for Cancer Research, Tokyo, Japan. Electronic address:
    Dominant mutations in the Serca2 gene, which encodes sarco(endo)plasmic reticulum calcium-ATPase, predispose mice to gastrointestinal epithelial carcinoma [1-4] and humans to Darier disease (DD) [14-17]. In this study, we generated mice harboring N-ethyl-N-nitrosourea (ENU)-induced allelic mutations in Serca2: three missense mutations and one nonsense mutation. Mice harboring these Serca2 mutations developed tumors that were categorized as either early onset squamous cell tumors (SCT), with development similar to null-type knockout mice [2,4] (aggressive form; M682, M814), or late onset tumors (mild form; M1049, M1162). Read More

    Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey.
    Psychiatry Clin Neurosci 2016 Aug 3;70(8):342-50. Epub 2016 Jun 3.
    Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako, Japan.
    Aim: Though genetic factors play a major role in the pathophysiology of psychoses including bipolar disorder (BD) and schizophrenia, lack of well-established causative genetic mutations hampers their neurobiological studies. Darier's disease, an autosomal dominant skin disorder caused by mutations of ATP2A2 on chromosome 12q23-24.1, encoding sarco/endoplasmic reticulum calcium transporting ATPase 2 (SERCA2), reportedly cosegregates with BD. Read More

    Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease.
    Clin Exp Dermatol 2016 Aug 30;41(6):628-31. Epub 2016 Mar 30.
    The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, USA.
    Papular acantholytic dyskeratosis (PAD) of the vulva is a rare, chronic disorder first described in 1984. It presents in young women as white to skin-coloured smooth papules over the vulva, which are persistent but asymptomatic. Histologically, there is hyperkeratosis and focal parakeratosis with acantholytic and dyskeratotic cells forming corps ronds and grains, placing PAD within Ackerman's spectrum of focal acantholytic dyskeratoses with Hailey-Hailey disease (HHD) and Darier disease. Read More

    Darier disease.
    J Dermatol 2016 Mar;43(3):275-9
    Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
    Darier disease (DD) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists through adolescence, and causes small papules predominantly in seborrheic areas such as the face, chest and back. Read More

    A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
    Sci Rep 2016 Feb 23;6:21815. Epub 2016 Feb 23.
    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai 200092, China.
    Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks--mutilating palmoplanter and periorificial keratoderma. However, there's a growing body of literature reporting on the phenotypic diversity of OS, including the absence of aforementioned hallmarks and the presence of some unusual clinical features. Here we presented an atypical familial case of OS that could be confused with Huriez syndrome due to the presence of a scleodactyly-like appearance and tapered fingers in the proband. Read More

    Dermoscopy of Grover's disease: Variability according to histological subtype.
    J Dermatol 2016 Aug 19;43(8):937-9. Epub 2016 Feb 19.
    Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.
    Distinguishing Grover's disease from other papular dermatoses is often a troublesome task. According to two relatively recent case reports, dermoscopy may be useful in assisting the diagnosis of such a disorder by showing a peculiar pattern. The aim of this study was to evaluate the dermoscopic features of Grover's disease in a larger series of patients and correlate dermoscopy with histopathological findings. Read More

    Twenty-Nail Dystrophy and Darier's (Darier-White) Disease.
    Skinmed 2015 Jul-Aug;13(4):313-5. Epub 2015 Aug 1.
    Department of Pathology, University College of Medical Sciences, and Associated Guru Teg Bahadur Hospital, Shahdara, Delhi, India.
    A 35-year-old married man presented with progressive distortion of all the nails of the hands and toes for the past 30 years. Initially, his parents noticed yellowish discoloration and roughness of the thumb nail at the age of 5 years. Since then, the changes have been insidious to involve the other nails. Read More

    Dowling-Degos disease co-presenting with Darier disease.
    Clin Exp Dermatol 2016 Jun 18;41(4):410-2. Epub 2015 Dec 18.
    Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.
    We present a case of a patient with long-standing hyperpigmented macules and erythematous papules over his chest, abdomen, back and arms, suggestive of Dowling-Degos disease (DDD). In addition, there were hyperkeratotic papules, alternating red and white nail-bed discolouration, and V-shaped nail notching consistent with Darier disease (DD). Histology showed findings consistent with DDD and DD on separate specimens. Read More

    Extensive Darier Disease Successfully Treated with Doxycycline Monotherapy.
    Case Rep Dermatol 2015 Sep-Dec;7(3):311-5. Epub 2015 Oct 29.
    Department of Dermatology, Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, France.
    Darier disease (DD) is a rare dominantly inherited genodermatosis characterized by loss of intercellular adhesion (acantholysis) and abnormal keratinization. DD is often difficult to manage. Numerous treatments have reportedly been used for the treatment of DD, with limited success. Read More

    Linear Darier's disease: A case with bilateral presentation.
    Indian Dermatol Online J 2015 Sep-Oct;6(5):345-7
    Department of Dermatology, Gauhati Medical College and Hospital and Dr. K.N.Barua Institute of Dermatological Sciences (BIDS), Guwahati, Assam, India.
    Darier's disease is an autosomal dominant genodermatosis characterized by a persistent eruption of hyperkeratotic greasy papules mainly over the seborrheic sites of the body, usually associated with nail abnormalities and sometimes with mucous membrane lesions. The lesions typically occur in the younger age group and are associated with pruritus. We report here an atypical case of Linear Darier's disease with bilateral presentation in a middle-aged adult that could be confused with conditions such as lichen planus, inflammatory linear verrucous epidermal nevus, and wart. Read More

    Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
    Br J Dermatol 2016 Mar 17;174(3):562-8. Epub 2015 Dec 17.
    The Rappaport Faculty of Medicine, Technion, Haifa, Israel.
    Background: Darier disease (DD) is a rare genodermatosis caused by heterozygous mutations in the ATP2A2 gene. It has been associated with neuropsychiatric manifestations.

    Objectives: To investigate the genetic basis of Israeli patients with DD, and its association with the neuropsychiatric phenotype. Read More

    Diffuse cutaneous bullous mastocytosis with IgM deposits at dermo-epidermal junction.
    J Cutan Pathol 2016 Mar 29;43(3):263-9. Epub 2015 Oct 29.
    Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
    Cutaneous mastocytosis is a disease characterized by the infiltration and proliferation of mast cells in the skin. In children, the most common form of presentation is urticaria pigmentosa, while the diffuse cutaneous bullous mastocytosis is one of the rarest subtypes seen. The aim of this paper is to present a case of diffuse bullous mastocytosis with detection of IgM deposits at dermo-epidermal junction using direct immunofluorescence (DIF) microscopy. Read More

    Kyrle Disease A Rare Dermatologic Condition Associated with the Diabetic Foot.
    J Am Podiatr Med Assoc 2015 Sep;105(5):451-5
    We report two cases of biopsy-confirmed Kyrle disease. Kyrle disease is one of the perforating dermatoses associated with diabetic patients undergoing renal dialysis. In this report, we describe the clinical and histopathologic features, the differential diagnoses, and successful treatment of this unusual disorder. Read More

    Severe Darier's disease in a psychiatric patient.
    An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):66-8
    Complexo Hospitalar Padre Bento de Guarulhos, São Paulo, SP, BR.
    Darier's disease is characterized by dense keratotic lesions in the seborrheic areas of the body such as scalp, forehead, nasolabial folds, trunk and inguinal region. It is a rare genodermatosis, an autosomal dominant inherited disease that may be associated with neuropsichiatric disorders. It is caused by ATPA2 gene mutation, presenting cutaneous and dermatologic expressions. Read More

    Segmental Darier's disease: a presentation of difficult diagnosis.
    An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):62-5
    Universidade do Estado do Rio de Janeiro, Guarulhos, SP, BR.
    Darier's disease is a rare autosomal dominant genodermatosis. It has an estimated prevalence of 1 in 55,000 to 100,000 individuals, regardless of gender. It is characterized by multiple keratotic papules on the seborrheic areas of the trunk, scalp, forehead and flexures, and the clinical picture is worsened by heat, sun exposure, perspiration and mechanical trauma. Read More

    Acantholytic dermatosis of the vulva.
    Dermatol Online J 2015 May 18;21(5). Epub 2015 May 18.
    Hebrew University Medical Center, Jerusalem, Israel.
    Acantholytic dermatosis of the vulva is a rare condition, presenting with papular eruption in the genital area without history of Darier disease or Hailey-Hailey disease. We report a case with a papular pruritic eruption in the region of the vulva, coalescing into plaques. Biopsy specimen showed irregular acanthosis with an area of split-like bullous formation in the deeper part of the epidermis, as well as acantholytic cells, marked hypergranulosis and hyperkeratosis, compatible with the rare diagnosis of acantholytic dermatosis of the vulva. Read More

    Darier's Disease in Gastric Malignancy: An Unusual Paraneoplastic Phenomenon.
    Indian J Dermatol 2015 Jul-Aug;60(4):423
    Department of Dermatology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
    Darier's disease is an autosomal dominant genodermatosis resulting from ATP2A2 gene mutation. A 62-year-old male presented at our outpatient (OPD) with sudden-onset numerous dirty, warty papules over the head, neck, and back since 2 months. Histopathology of the skin lesions revealed acantholytic dyskeratosis suggestive of Darier's disease. Read More

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