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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

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 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

Skin Res Technol 2019 Jan 9. 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 2018 Dec 21. 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.

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 2018 Nov 18. Epub 2018 Nov 18.

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

Eur J Dermatol 2018 Aug;28(4):566-567

Department of Dermatology and Venereology, Hospital de Santo António dos Capuchos - Centro Hospitalar de Lisboa Central, Alameda de Santo António dos Capuchos, 1169-050 Lisbon, Portugal.

Am J Med Genet B Neuropsychiatr Genet 2018 Dec 22;177(8):717-726. Epub 2018 Oct 22.

Department of Psychological Medicine, University of Worcester, Worcester, United Kingdom.

Darier disease (DD) is an autosomal dominant skin disorder caused by mutations in ATP2A2 encoding the sarco/endoplasmic reticulum Ca ATPase Isoform 2 (SERCA2). Evidence of a population-level association between DD and psychiatric disorders suggests that mutations in ATP2A2 may have pleiotropic effects on the brain as well as skin. Evidence of genotype-phenotype relationships between ATP2A2 mutations and neuropsychiatric phenotypes would further support this suggestion. Read More

Clin Exp Dermatol 2019 03 7;44(2):e10-e12. Epub 2018 Oct 7.

Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan.

J Cutan Pathol 2018 Dec 21;45(12):958-961. Epub 2018 Oct 21.

Department of Dermatology, University of California Irvine, Irvine, California.

Keratosis pilaris (KP) is a benign cutaneous disorder characterized by folliculocentric hyperkeratotic papules most often occurring on the proximal extremities. Erythema is usually limited to perifollicular skin, but when keratosis pilaris presents on a background of confluent erythema, the term keratosis pilaris rubra (KPR) is used. The histological findings associated with KP have not been well described in the literature. Read More

Clin Dermatol 2018 Sep - Oct;36(5):631-640. Epub 2018 Jun 1.

Department of Dermatology, Mt Sinai West, Icahn School of Medicine at Mt Sinai, New York, NY. Electronic address:

Atopic dermatitis is a common chronic pruritic inflammatory skin disorder, characterized by an abnormal skin barrier, immune dysfunction, and an altered skin microbiome. Atopic dermatitis may be seen in conjunction with a variety of other skin disorders due to the complex pathogenesis of atopic dermatitis, involving genetic and environmental factors that are associated with immune dysfunction, barrier defects, and altered skin microbiomes. Skin disorders associated with atopic dermatitis include diseases sharing similar genetic origins like ichthyosis vulgaris, infectious diseases such as impetigo, and eczema herpeticum, in addition to the cutaneous autoimmune diseases, alopecia areata, and vitiligo. Read More

SAGE Open Med Case Rep 2018 10;6:2050313X18795071. Epub 2018 Sep 10.

Division of Dermatology, The Ottawa Hospital, Ottawa, ON, Canada.

Darier's disease, an autosomal dominant genodermatosis, arises from a mutation in the gene that codes for sarco/endoplasmic reticulum Ca-ATPase in the endoplasmic reticulum and is characterized by greasy keratotic papules commonly found in seborrheic regions. Conventional treatments, including topical corticosteroids, antibiotics, antifungals and retinoids, often have limited efficacy. The present article reports the novel use of oral magnesium chloride supplementation (300 mg daily) in the treatment of Darier disease. Read More

J Cutan Pathol 2019 Jan 5;46(1):6-15. Epub 2018 Nov 5.

Department of Dermatology, University of California San Francisco, San Francisco, California.

Background: Acantholysis can be seen in multiple skin diseases. Adnexal acantholysis has been regarded as a feature distinguishing pemphigus vulgaris (PV) from acantholytic conditions.

Methods: A retrospective review of the histopathologic features of diseases with acantholysis including PV, pemphigus foliaceus (PF), Hailey-Hailey disease (HHD), Darier disease (DD), Grover disease, and pityriasis rubra pilaris (PRP) was performed. Read More

Dermatol Clin 2018 Oct 16;36(4):487-501. Epub 2018 Aug 16.

Dermatology Clinic, University of Catania, Via Santa Sofia 78, Catania 95123, Italy.

Dermatoscopy and in vivo reflectance confocal microscopy are noninvasive techniques that provide a horizontal approach, with an en face view of the skin structures. Both techniques assist in the clinical diagnosis of a variety of inflammatory and infectious cutaneous disorders. In many cases, they have shown concordance. Read More

Clin Exp Dermatol 2018 Sep 3. Epub 2018 Sep 3.

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

An Bras Dermatol 2018 Sep-Oct;93(5):749-751

Dermatology Service, Hospital Regional de Presidente Prudente, Universidade do Oeste Paulista, Presidente Prudente (SP), Brazil.

We present a different and rare manifestation of Darier's disease, namely linear Darier's disease. Only a few cases have been described in the literature. The case report is a male patient, 60 years old, presenting brown to red papules and plaques with hyperkeratosis distributed on the abdomen, following Blaschko's lines, with 6 years' evolution. Read More

Int J Dermatol 2018 11 27;57(11):e140-e141. Epub 2018 Aug 27.

Department of Dermatology, University of Health Sciences, Ankara Numune Training and Research Hospital, Ankara, Turkey.

BMJ Case Rep 2018 Aug 27;2018. Epub 2018 Aug 27.

Dermatology Residency, Affiliated Dermatology, Scottsdale, Arizona, USA.

Acta Derm Venereol 2019 Jan;99(1):115-116

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Mol Med Rep 2018 Sep 31;18(3):3153-3158. Epub 2018 Jul 31.

Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of the present study was to identify the disease‑causing genes and their association with functional alterations in the development of KP and NC. Peripheral blood samples of one KP family, two NC families and 100 unrelated healthy controls were collected. Read More

Am J Clin Dermatol 2018 Oct;19(5):733-757

The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 240 East 38th Street, 11th Floor, New York, NY, 10016, USA.

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Read More

Dermatol Ther 2018 Jul 20;31(4):e12641. Epub 2018 Jul 20.

Vitalogy Skincare, Georgetown, Texas.

Allergol Int 2018 Oct 11;67(4):532-534. Epub 2018 Jul 11.

Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Indian J Pathol Microbiol 2018 Jul-Sep;61(3):414-417

Postgraduate Program in Public Health; School of Medicine, Health Sciences Center, University of Fortaleza, Fortaleza, Ceara, Brazil.

Kyrle's disease (KD) is a rare skin pathology characterized by transepidermal elimination of abnormal keratin. The aim of this article is to report a rare case of KD associated with diabetes mellitus, chronic kidney disease, and HIV. A 51-year-old male patient complained of diarrhea for 8 months. Read More

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

Acta Derm Venereol 2018 Aug;98(8):809-810

Department of Dermatology, "Emek" Medical Center, Afula, Israel.

Australas J Dermatol 2018 Nov 16;59(4):e301-e302. Epub 2018 May 16.

Sydney Medical School Central, The University of Sydney, Sydney, New South Wales, Australia.

J Dermatol 2018 Aug 14;45(8):1003-1008. 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

J Drugs Dermatol 2018 May;17(5):554-556

Chlorine dioxide complex™ is a new molecule to dermatology that is a unique, non-toxic, broad spectrum anti-microbial and keratolytic compound. Chlorine dioxide has been used as an antiseptic in industrial settings for decades, primarily in water treatment facilities for municipal water supplies and food preparation. The compound has exceptional antiseptic properties with no known potential for development of resistance. 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.

J Biol Chem 2018 03;293(11):3890-3891

Department of Biochemistry, University of Alberta, Edmonton, Alberta T6G 2R3, Canada

Naturally occurring mutations of a calcium ion transporter can cause a skin condition known as Darier's disease. In this issue of JBC, Mikkelsen describe a particularly interesting Darier's mutation that alters calcium transport by disrupting a kinetic braking mechanism that is unique to the SERCA2b calcium pump isoform. The study provides new insight into the intrinsic regulation of this transporter and reveals how disruption of regulation can lead to disease in Darier's patients. Read More

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 07;27(7):795-797

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

J Drugs Dermatol 2018 Mar;17(3):285-288

Keratosis pilaris (KP) is a common skin finding that presents as follicular hyperkeratotic papules on the proximal extremities in patients with a propensity for atopy. Although often asymptomatic, the stippled appearance is cosmetically disturbing to patients and difficult to treat as current therapies are limited in availability and efficacy. Nitric oxide (NO) has been found to be essential in basic systemic and cutaneous physiologic function, specifically in terms of its anti-microbial and anti-inflammatory properties, which evolutionarily was maintained by ammonia-oxidizing bacteria (AOB). 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 03 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 Aug 4;59(3):e231-e233. Epub 2018 Jan 4.

Department of Pathology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

J Dermatolog Treat 2018 Sep 10;29(6):630-632. Epub 2018 Jan 10.

a Section of Dermatology, Department of Medicine , University of Verona , Verona , Italy.

Background: Kyrle's disease (KD) is a primary perforating dermatosis that affects more commonly 30-50 year old females, and clinically characterized by pruritic hyperkeratotic and ulcerated nodules, papules and plaques, localized on extensor surface of upper and lower limbs, and on the trunk.

Objective: To determine the effectiveness of the treatment with oral isotretinoin in KD.

Methods: We present the case of a 63-year-old woman with hyperkeratotic, erythematous-brown nodules and plaques localized on arms and legs, intensely itching; some lesions were ulcerated and discharging. Read More