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JAAD Case Rep 2020 May 30;6(5):441-443. Epub 2020 Apr 30.

Apex Dermatology and Skin Surgery Center, Mayfield Heights, Ohio.

Genes (Basel) 2020 Apr 28;11(5). Epub 2020 Apr 28.

Dermfocus, University of Bern, 3001 Bern, Switzerland.

A 4-month-old female Irish Terrier presented with a well demarcated ulcerative and crusting lesion in the right ear canal. Histological analysis revealed epidermal hyperplasia with severe acantholysis affecting all suprabasal layers of the epidermis, which prompted a presumptive diagnosis of canine Darier disease. The lesion was successfully treated by repeated laser ablation of the affected epidermis. Read More

Sci Rep 2020 Apr 23;10(1):6886. Epub 2020 Apr 23.

Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.

Human data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in heart disease is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the ATP2A2 gene encoding the sarcoendoplasmic-reticulum Ca2 ATPase isoform 2 (SERCA2), which causes calcium dyshomeostasis and ER stress. We hypothesized that DD patients would have an increased risk for common heart disease. Read More

J Eur Acad Dermatol Venereol 2020 Apr 20. Epub 2020 Apr 20.

Department of Dermatology, Keio University School of Medicine, Shinanomachi 35, Shinjuku, Tokyo, Japan.

Darier disease is an autosomal dominant skin disease characterized by keratotic greasy papules and plaques, primarily in seborrheic and intertriginous areas. Darier disease is caused by mutations in ATP2A2 that encodes a sarco/endoplasmic reticulum Ca2 -ATPase (SERCA2), leading to compromised intercellular adhesion. The mosaicism caused by a postzygotic genetic change in ATP2A2 results in a segmental form of the disease. Read More

G Ital Dermatol Venereol 2020 Mar 10. Epub 2020 Mar 10.

Dermatology Unit, University of Campania Luigi Vanvitelli, Naples, Italy.

Dermatol Online J 2020 Jan 15;26(1). Epub 2020 Jan 15.

Department of Dermatology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA.

A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease. It has been theorized that the mutation in ATP2A2 causes defective E-cadherin, which in turn disrupts the adhesion of melanocytes to keratinocytes, thus leading to impaired dendrite formation, hindered melanin transfer, and ultimately to melanocyte apoptosis. Read More

JAAD Case Rep 2020 Mar 19;6(3):189-191. Epub 2020 Feb 19.

Department of Dermatology, National Reference Center for Rare Skin Diseases, Bordeaux University Hospitals, Bordeaux, France.

An Bras Dermatol 2020 Mar - Apr;95(2):244-246. Epub 2020 Feb 12.

Department of Dermatology, Dokuz Eylul Universitesi, Balcova, Izmir, Turkey.

The clinical diagnosis of Kyrle's disease may sometimes be challenging, due to the clinical similarity of lesions to other pruritic dermatosis. Although the dermoscopy is being increasingly used in daily practice, there is insufficient data in literature describing the dermoscopic patterns of Kyrle's disease, since only one report has been published to date. Herein we report our dermoscopic observation with additional diagnostic tips in a case who was diagnosed with Kyrle's disease histopathologically. Read More

Indian Dermatol Online J 2020 Jan-Feb;11(1):72-78. Epub 2020 Jan 13.

Department of Dermatology, Venereology and Leprosy, Dr. R.P. Govt. Medical College, Kangra (Tanda), Himachal Pradesh, India.

Darier's disease is an uncommon chronic dermatosis of autosomal dominant inheritance with significant psychosocial morbidity and shows unsatisfactory response to several topical and systemic therapies or various resurfacing or surgical procedure. A 24-year-old woman having characteristic asymptomatic and progressive, hyperkeratotic papular lesions involving the scalp, face, upper trunk, and dorsal hands and feet was diagnosed clinicopathologically as Darier's disease. She was treated successfully with oral Vitamin A 25000 IU given twice daily. Read More

Diabetol Metab Syndr 2020 5;12:12. Epub 2020 Feb 5.

1Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.

Background: Human data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in diabetes is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the gene encoding the sarcoendoplasmic-reticulum ATPase 2 (SERCA2) calcium pump, which causes calcium dyshomeostasis and ER stress. We hypothesize that DD patients have a diabetes-like metabolic phenotype and the objective of this study was to examine the association between DD with impaired glucose tolerance and diabetes. Read More

Acta Dermatovenerol Croat 2019 Dec;27(4):270-272

Assoc. Prof. Suzana Ljubojević Hadžavdić, MD, PhD, Department of Dermatology and Venereology, Zagreb University Hospital Center, University of Zagreb School of Medicine, Šalata 4, 10000 Zagreb, Croatia;

The prevalence of psoriasis is 2% of the world's population (1). Inverse psoriasis is characterized by the development of erythematous shiny plaques at intertriginous areas of the body. The prevalence of only anogenital involvement appears to be low, but involvement of the anogenital area together with other areas is found in up to 45% of patients with psoriasis (2). Read More

Cureus 2019 Dec 4;11(12):e6292. Epub 2019 Dec 4.

Otolaryngology, St. George's University School of Medicine, St. George's, GRD.

Darier disease (DD), also known as dyskeratosis follicularis, is a rare genodermatosis classically characterized by persistent hyperkeratotic papules and plaques affecting the seborrheic areas. Due to its variable expressivity, it can present with very discrete clinical features for many years, leading to diagnostic errors and incorrect treatments. We report an unusual case of Darier disease in a 69-year-old male patient in which the classical features of DD had a remarkably late onset. Read More

Case Rep Dermatol 2019 Sep-Dec;11(3):327-333. Epub 2019 Dec 10.

Division of Dermatology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Darier's disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the gene. The condition is characterized by multiple hyperkeratotic papules predominantly in seborrheic areas on the head, neck, and trunk, with less frequent involvement of the oral mucosa. Histopathologically, the lesions reveal suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells. Read More

Clin Ter 2019 Nov-Dec;170(6):e418-e420

Department of Dermatology, Policlinico Umberto I, "Sapienza" University of Rome, Italy.

Acrokeratosis verruciformis of Hopf is a rare heritable autosomal dominant genodermatosis and keratinization disorder, first described in 1931 by Hopf. It presents with multiple flat skin colored papules, mainly localized at the dorsal region of the hands and feet. AKV is an allelic disorder, associated with heterozygous missense mutation in ATP2A2 gene, which is involved in Darier's disease. Read More

Pan Afr Med J 2019 13;33:297. Epub 2019 Aug 13.

Head of Department of Dermatology and Venereology at Zhongnan Hospital of Wuhan University, Wuhan City, Hubei Province, People's Republic of China.

Usually most patients with dermatofibrosarcoma protuberans (DFSP) may present rather late when the tumor is in protuberant phase due to its rarity and indolent onset. It has a high propensity for local recurrence and destructive nature. Management of DFSP requires a biopsychosocial and Multidisplinary approach regardless of the clinical or immunohistochemical variant. Read More

Heliyon 2019 Sep 26;5(9):e02520. Epub 2019 Sep 26.

Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, University of Lisbon, Portugal.

Background: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca transporting 2 () gene, which encodes an ATPase responsible for pumping Ca from the cytosol to the lumen of the ER. Read More

Dermatol Ther 2019 11 24;32(6):e13114. Epub 2019 Oct 24.

State Department of Dermatology and Venereology, Andreas Sygros Hospital, Athens, Greece.

Acta Dermatovenerol Croat 2019 Sep;27(3):192-194

Professor Nikolina Bašić-Jukić, MD, PhD, Department of Nephrology, Arterial , Hypertension, Dialysis and Transplantation, University Hospital Centre Zagreb, Kišpaticeva 12, 10000 Zagreb, Croatia;

Dear Editor, It is not unusual for patients with renal insufficiency to develop skin pathologies. There are reports in the literature of increased incidence of calciphylaxis, pruritus, perforating dermatoses, and porphyria cutanea tarda in this patient population (1). Although it is quite rare, Grover's disease (GD) has been reported in several patients with renal insufficiency, but only once in a renal transplant recipient (2). Read More

J Community Hosp Intern Med Perspect 2019 5;9(4):347-350. Epub 2019 Sep 5.

Department of Dermatology, Greater Baltimore Medical Center, Towson, MD, USA.

The occurrence of eczema herpeticum (EH) in patients with Darier's disease (DD) is a rare occurrence. It is considered a dermatologic emergency due to its high mortality rate if misdiagnosed or left untreated. Here, we present a case of a 42-year-old woman with a longstanding history of DD who presented with EH secondary to herpes simplex 1. Read More

Psychosomatics 2020 May - Jun;61(3):281-283. Epub 2019 Jul 30.

Department of Psychiatry, Creighton University School of Medicine, Phoenix, AZ. Electronic address:

Pan Afr Med J 2019 22;33:46. Epub 2019 May 22.

Department of Surgical Oncology, Salah Azaiez Institute, University of Tunis El Manar, Tunis, Tunisia.

Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade sarcoma of dermal origin that rarely presents in the vulva, typically occurring on the trunk of young to middle-aged adults. Even though it has a low potential for distant metastases, it often recurs locally. Therefore, surgical excision is the treatment of choice. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):794-797

Department of Biochemistry and Molecular Biology, Center for DNA Typing, the Fourth Military Medical University, Xi' an, Shaanxi 710032, China.

Objective: To explore the molecular basis for a pedigree affected with Darier-White disease.

Methods: Genomic DNA was isolated from 3 patients and 1 unaffected member from the pedigree, as well as 80 healthy controls. Targeted sequence capture and next-generation sequencing were used to screen mutations of skin disease-related genes. Read More

J Cutan Pathol 2020 Jan 2;47(1):61-64. Epub 2019 Sep 2.

Dermatology Department, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

We present a challenging case of chronic, erosive, scarring dermatosis of the vulva with clinical features of long standing lichen sclerosus (LS), namely pallor and loss of vulval architecture, but with histopathology consistently showing features of an acantholytic process. The history and clinical features of this case do not resemble other acantholytic conditions such as pemphigus vulgaris, Hailey-Hailey disease, Darier disease, or the entities described as acantholytic dermatoses affecting the vulva. As far as we are aware, the combination of the clinical features and histopathologic findings in our case do not fit with any previously described condition and we propose that this is a rare entity of a collision of LS and an erosive acantholytic process occurring together. Read More

Clin Case Rep 2019 Jul 3;7(7):1362-1364. Epub 2019 Jun 3.

Department of Dermatology Wayne State University School of Medicine Detroit Michigan.

Unilateral segmental Darier's disease (DD) is a rare variant of DD that presents with erythematic lesions in a unilateral distribution without other associated features of DD. Although diagnosis is challenging, unilateral segmental DD should be considered for an acantholytic dermatosis in a unilateral distribution and a history of neuropsychiatric disorders. Read More

J Cutan Med Surg 2019 Jul/Aug;23(4):453-454

1 Division of Dermatology, McGill University Health Centre, Montreal General Hospital, QC, Canada.

J Am Acad Dermatol 2019 12 1;81(6):1425-1426. Epub 2019 Jun 1.

Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

Indian Dermatol Online J 2019 May-Jun;10(3):337-340

Department of Pathology, Pandit Bhagwat DayalSharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.

Dermatol Online J 2019 Apr 15;25(4). Epub 2019 Apr 15.

Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas.

Darier disease (DD), also known as keratosis follicularis or Darier-White disease, is a rare autosomal dominant genodermatosis that presents as hyperkeratotic, warty papules affecting the seborrheic and intertriginous areas. Patients with DD are at risk of secondary infections including the rare complication of Kaposi varicelliform eruption (KVE), a widespread viral infection most commonly caused by herpes simplex virus (HSV). Darier disease with secondary KVE can lead to widespread systemic infection and death. Read More

Dermatol Online J 2019 Mar 15;25(3). Epub 2019 Mar 15.

Texas A & M University College of Medicine, College Station, Texas.

Epidermodysplasia verruciformis (EV) is an autosomal recessive genodermatosis characterized by susceptibility to beta-genus human papillomavirus (HPV) infection. Owing to TMC6/EVER1 and TMC8/EVER2 mutations that lead to abnormal transmembrane channels in the endoplasmic reticulum involved in immunological pathways, keratinocytes cannot combat infection from non-pathogenic HPV strains. Mutations involving RHOH, MST-1, CORO1A, and IL-7 have also been associated with EV in patients without TMC6 or TMC8 mutations. Read More

Int J Dermatol 2019 Aug 9;58(8):e151-e152. Epub 2019 Apr 9.

Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

JAMA Dermatol 2019 05;155(5):633-635

Cutaneous Biology Research Institute, Department of Dermatology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

J Eur Acad Dermatol Venereol 2019 08 3;33(8):1450-1451. Epub 2019 Apr 3.

Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Meilahdentie 2, PO Box 160, 00029 HUS, Helsinki, Finland.

J Drugs Dermatol 2019 Feb;18(2):213-214

Darier disease is an autosomal dominant genodermatosis of abnormal keratinization characterized by hyperkeratotic papules and plaques with a predilection for seborrheic areas. We report a case of a rare vesiculobullous variant of treatment-resistant Darier disease in a 55-year-old woman that failed topical tacrolimus and topical and oral glucocorticoids. Cetirizine was initiated at 10 mg daily and increased to 40 mg daily over four weeks, with resultant marked improvement of the patient’s burning sensation. Read More

J Dermatol 2019 08 25;46(8):e298-e299. Epub 2019 Feb 25.

Institute of Dermatology, "Santa Maria della Misericordia" University Hospital, Udine, Italy.

Int J Dermatol 2019 Oct 20;58(10):1160-1164. Epub 2019 Feb 20.

Marshfield Medical Center, Marshfield, WI, USA.

Background: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic syndrome and member of a diverse group of disorders known as ciliopathies. Improved understanding of dermatoses in BBS will further understanding of the syndrome and will help define the role of dermatologists in providing care for patients with BBS. The purpose of this study was to describe the cutaneous phenotype of BBS in patients attending a large, multispecialty BBS clinic. Read More

J Eur Acad Dermatol Venereol 2019 May 5;33(5):950-953. Epub 2019 Mar 5.

Dermatology, Technical University of Munich, Munich, Germany.

Background: Darier disease is a rare autosomal-dominant genodermatosis with a loss of function of a Ca -ATPase pump (SERCA2-pump). Clinically, the disease is characterized by red-brown keratotic papules mainly in seborrhoeic areas and has only limited and unsatisfactory treatment options. Previously, low-dose naltrexone was described as a successful treatment option in Hailey-Hailey disease, a genodermatosis with a genetic mutation coding for a similar loss of function of a Ca -ATPase pump (hSPCA1-pump). Read More

J Dermatol 2019 Jun 21;46(6):e211-e212. Epub 2019 Jan 21.

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Skin Res Technol 2019 May 9;25(3):404-406. Epub 2019 Jan 9.

Department of Dermatology, Hospital de Santa Maria, Lisbon, Portugal.

J Pak Med Assoc 2019 Jan;69(1):113-115

Aga Khan University Hospital, Karachi.

In 1924, Darier and Ferrand described Dermatofibrosarcoma Protuberans as a progressive and recurring dermatofibroma. It is a locally aggressive sarcoma originating from dermal and subdermal tissue of the skin. It usually begins as a small plaque that grows over a period and later manifests as multiple small subcutaneous nodules. Read More

Ann Dermatol Venereol 2018 Dec;145 Suppl 6:VIS63-VIS100

Clinique dermatologique, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France. Electronic address:

J Am Acad Dermatol 2019 Jun 21;80(6):1746-1752. Epub 2018 Dec 21.

Medical University of South Carolina, Charleston, South Carolina.

Background: Naltrexone in standard and reduced doses is efficacious in many inflammatory and acantholytic disorders.

Objective: We summarized the current data of naltrexone that are relevant to dermatologic practice.

Methods: An English language PubMed literature search was performed using the terms naltrexone, low-dose naltrexone, Hailey-Hailey, psoriasis, lichen planopilaris, alopecia, opioid, opioid receptor, treatment, dermatology, monitoring, side effect, skin, pruritus, cutaneous, acantholytic, and Darier. Read More

JAAD Case Rep 2019 Jan 11;5(1):75-77. Epub 2018 Dec 11.

Department of Dermatology, CHU Nantes, Nantes, France.

Skinmed 2018;16(6):421-422. Epub 2018 Dec 21.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

A 12-year-old girl was referred to the University Hospital of Southern Denmark with multiple small, punched-out scars on both cheeks, proximal and lateral on the nose, and in the auricular conchae. According to the history, the skin lesions had been progressing since the age of 3 years. The family had consulted several dermatologists and one plastic surgeon without any specific diagnosis or therapeutic solution. Read More

Clin Exp Dermatol 2019 Oct 21;44(7):794-796. Epub 2018 Dec 21.

Department of Dermatology, Hospital General Universitario de Valencia, Valencia, Spain.

Am J Clin Dermatol 2019 02;20(1):165

Private practice, St Albans, UK.

JAAD Case Rep 2018 Nov 14;4(10):1062-1064. Epub 2018 Nov 14.

Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina.

Dermatol Pract Concept 2018 Oct 31;8(4):283-291. Epub 2018 Oct 31.

Postgraduate Department of Dermatology, STD & Leprosy, Government Medical College, Srinagar, University of Kashmir, Jammu & Kashmir, India.

Background: Nail disorders comprise approximately 10% of all dermatological conditions. Because diagnosis is not always possible by clinical means alone, additional diagnostic procedures may be required at times. Dermoscopy of nails (onychoscopy) has shown promising results in diagnosing various nail disorders and also avoids time-consuming investigations such as culture and biopsy. Read More

Australas J Dermatol 2019 May 18;60(2):e171-e172. Epub 2018 Nov 18.

Department of Dermatology, Shandong Provincial Hospital for Skin Disease, Shandong University, Jinan, Shandong, China.