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(2+) 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

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 Sep 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

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

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 Apr 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(2+) -ATPase 2 (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

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(2+) - 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 Dec;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 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

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

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

G Ital Dermatol Venereol 2016 Oct;151(5):582-5

Laboratorio di Genetica Molecolare, Unità Operativa Complessa di Genetica Medica, IRCCS Associazione Oasi Maria SS., Troina, Enna, Italy -

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

J Am Acad Dermatol 2016 Sep;75(3):e99-e101

Dermatology Unit, Second University of Naples, Naples, Italy.

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

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

G Ital Dermatol Venereol 2016 Aug;151(4):449-50

Department of Dermatology and Venereology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey -

Pediatr Dermatol 2016 Jul 10;33(4):443-6. Epub 2016 Jun 10.

Division of Clinical Dermatology, Mayo Clinic, Rochester, Minnesota.

Background: Keratosis pilaris rubra is a common but rarely reported condition characterized by follicular-based hyperkeratotic papules on a background of erythema. It can be embarrassing and symptomatic for patients, particularly adolescent boys. We sought to explore the efficacy of pulsed dye laser (PDL) in the treatment of keratosis pilaris rubra. Read More

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

Dermatol Ther 2016 Jul 6;29(4):222-3. Epub 2016 Jun 6.

Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Br J Dermatol 2016 Jul 7;175(1):224. Epub 2016 Jun 7.

The Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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

Acta Derm Venereol 2017 01;97(1):139-140

Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, Hellerup, Denmark.

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

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

Biochem Biophys Res Commun 2016 Aug 27;476(4):175-182. 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

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

Photomed Laser Surg 2016 Jul 15;34(7):305-7. Epub 2016 Apr 15.

1 "Laser in Dermatology," University of Rome , Tor Vergata, Italy .

J Indian Soc Pedod Prev Dent 2016 Apr-Jun;34(2):177-9

Department of Oral Medicine and Radiology, Saveetha Dental College and Hospital, Chennai, Tamil Nadu, India.

Darier's disease, also known as keratosis follicularis, is a rare autosomal dominant genodermatosis, manifesting clinically as hyperkeratotic, firm papule that predominates in the seborrheic areas and flexures with accompanying nail abnormalities. Heat, sweating, sunlight, and stress are exacerbating factors of the lesion. The oral lesions are asymptomatic and comprise multiple white papules in the buccal mucosa and hard palate, giving a cobblestone appearance, and it is characterized histologically by loss of desmosomal adhesion and abnormal keratinization resulting in mucocutaneous abnormalities. Read More

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

Acta Derm Venereol 2016 11;96(7):993-994

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

Postgrad Med J 2016 Jul 23;92(1089):425-6. Epub 2016 Mar 23.

Department of Dermatology, Weill Cornell Medicine, New York, New York, USA.

Br J Dermatol 2016 Mar;174(3):488-9

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

J Cutan Med Surg 2016 Sep 18;20(5):478-80. Epub 2016 Mar 18.

Dermatrials Research Inc, Hamilton, ON, Canada

Background: Darier's disease is an autosomal-dominant inherited disorder with pathogenic changes of keratinization with various forms of cutaneous phenotypes. Rare forms of Darier's disease are uncommonly seen.

Methods: The investigators report the case of a 65-year-old woman who presented with hemorrhagic vesicles on the dorsum of her hands. Read More

Br J Dermatol 2016 Jul 7;175(1):223-4. Epub 2016 Jun 7.

Prezens and GGZ Ingeest Mental Health Services and the Department of Psychiatry, VU University Medical Center, Amsterdam, the Netherlands.