1,897 results match your criteria Keratosis Follicularis Darier Disease
Australas J Dermatol 2018 May 16. Epub 2018 May 16.
Sydney Medical School Central, The University of Sydney, Sydney, New South Wales, Australia.
J Dermatol 2018 May 14. Epub 2018 May 14.
Institute of Dermatology, Guangzhou Medical University, Guangzhou, China.
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 0.2-0. Read More
Caspian J Intern Med 2018 ;9(2):201-203
Skin Research Center, Department of Dermatology, Razi Hospital, Guilan University of Medical Sciences, Rasht, Iran.
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. Read More
JAAD Case Rep 2018 Apr 6;4(3):262-266. Epub 2018 Mar 6.
Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.
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
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
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
Indian Dermatol Online J 2018 Jan-Feb;9(1):62-63
Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
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
Australas J Dermatol 2018 Jan 4. Epub 2018 Jan 4.
Department of Pathology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Pediatr Dermatol 2018 Jan 21;35(1):e70-e71. Epub 2017 Nov 21.
Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India.
We describe 25 cases of erythromelanosis follicularis faciei et colli from India. The male:female ratio was 5.25:1 and the average age of onset was 12. Read More
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
JAMA Dermatol 2018 Jan;154(1):106-108
Department of Dermatology, Hospital Universitario Puerta del Mar, Cádiz, Spain.
Br J Dermatol 2018 May 25;178(5):1011-1019. Epub 2018 Mar 25.
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
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
Int J Dermatol 2018 Jan 26;57(1):116-117. Epub 2017 Oct 26.
Dermatology Department, Hôpital Nord Franche-Comté, Trevenans, France.
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
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
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
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
J Am Acad Dermatol 2017 08;77(2):e33-e35
Department of Pathology, JIPMER, Puducherry, India.
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
Actas Dermosifiliogr 2017 09 17;108(7):608. Epub 2017 May 17.
Clínica Dermalar, Santiago de Compostela, A Coruña, España. Electronic address:
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
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
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
Zhonghua Yi Xue Za Zhi 2017 Apr;97(14):1076-1078
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
To investigate the clinicopathological features of acantholytic mammary Paget's disease (AMPD). From January, 2010 to October, 2016, a total of 28 patients were diagnosed as AMPD in the Department of Dermatology, Peking Union Medical College Hospital. The clinical and histopathological data of these patients were analyzed retrospectively. Read More
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
Dermatol Ther 2017 May 17;30(3). Epub 2017 Feb 17.
Department of Dermatology, Hospital San Pedro, Logroño, Spain.
Indian J Dermatol Venereol Leprol 2017 May-Jun;83(3):369-371
Department of Genomics and Molecular Medicine, Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology, New Delhi, India.
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
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
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
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
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
JAMA Dermatol 2017 Apr;153(4):317-318
Division of Dermatology, Cooper Medical School, Rowan University, Camden, New Jersey3Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
J Am Acad Dermatol 2016 12;75(6):e235
Department of Medicine, Southern Illinois University School of Medicine, Springfield.
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
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
Int J Dermatol 2016 Dec 6;55(12):e623-e625. Epub 2016 Aug 6.
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
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
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
Actas Dermosifiliogr 2017 Jan - Feb;108(1):78-79. Epub 2016 Sep 9.
Servicio de Dermatología, Hospital Clínic, Universitat de Barcelona, Barcelona, España.
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
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
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
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