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https://www.readbyqxmd.com/read/28329545/darier-white-disease
#1
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28326204/an-unusual-location-of-subungual-warty-dyskeratoma-a-case-report-and-review-of-the-literature
#2
Elena Vargas-Laguna, Adrián Imbernón-Moya, Antonio Aguilar-Martínez, Fernando Burgos
Warty dyskeratoma is an uncommon entity characterized by a solitary keratotic papule or nodule usually located in the head and neck of young adults. The histopathology shows a pattern of acantholytic dyskeratosis. We report a 32-year-old man who presented pain, serous exudation, a distal onycholysis with subungual hyperkeratosis, and roundish erythronychia in the nail plate of his left first toe 2 years ago. A histopathologic diagnosis of subungual warty dyskeratoma was made. When dealing with focal acantholytic dyskeratosis several differential diagnoses should be considered including Darier's disease, transient focal acantholytic dyskeratosis or Grover disease, and Hailey-Hailey disease...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/28260214/polydactylous-transverse-erythronychia-report-of-a-patient-with-multiple-horizontal-red-bands-affecting-the-fingernails
#3
Carina Chang, Bryce D Beutler, Philip R Cohen
INTRODUCTION: Redness of the nail plate-erythronychia-is a common condition involving one or multiple digits. It may affect the entire nail or present as longitudinal red bands that extend from the proximal nail fold to the distal tip of the nail plate. Rarely, red bands may traverse the nail bed horizontally. Although erythronychia is often idiopathic, it has also been associated with amyloidosis, Darier's disease, lichen planus, and various other cutaneous conditions. We describe the clinical features of a 64-year-old Caucasian man who presented with transverse and longitudinal erythronychia affecting his fingernails...
March 4, 2017: Dermatology and Therapy
https://www.readbyqxmd.com/read/28256765/mimickers-of-classic-acantholytic-diseases
#4
REVIEW
Jonathan Ho, Jag Bhawan
Acantholysis is a commonly encountered histological pattern which typically generates a differential of the pemphigus variants, Hailey-Hailey, Darier's and Grover's diseases. In addition to these diseases, the dermatologist and dermatopathologist must be aware of entities that mimic classic acantholytic dermatoses and of rare disease variants, which are characterized by acantholysis.
March 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28242091/-dermatoses-and-herpes-superinfection-a-retrospective-study-of-34%C3%A2-cases
#5
V Seta, F Fichel, J-F Méritet, S Bouam, N Franck, M-F Avril, N Dupin
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...
March 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28191686/dermoscopy-of-uncommon-variants-of-dermatofibrosarcoma-protuberans
#6
Claudia Costa, Milena Cappello, Giuseppe Argenziano, Vincenzo Piccolo, Massimiliano Scalvenzi
Darier-Ferrand dermatofibrosarcoma protuberans (DFSP) is a locally aggressive fibrohistiocytic tumour with a low metastatic potential.(1) Because of its rarity, slow progression and lack of early clinical clues, the diagnosis of DFSP is often delayed. Classical DFSP clinically appeared like an indurated, irregularly-shaped plaques exhibiting flesh to reddish-brown colour. Some lesions also showed thin teleangectasia on the surface (Fig. 1, a). This article is protected by copyright. All rights reserved.
February 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28156030/er-to-golgi-blockade-of-nascent-desmosomal-cadherins-in-serca2-inhibited-keratinocytes-implications-for-darier-s-disease
#7
Ning Li, Moonhee Park, Shengxiang Xiao, Zhi Liu, Luis A Diaz
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. We show here that inhibition of SERCA2 by 2 distinct inhibitors results in accumulation of DC precursors in keratinocytes, indicating ER-to-Golgi transport of nascent DC is blocked...
February 3, 2017: Traffic
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#8
Mark R Wick
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. Examples of such disorders include impetigo, Herpes virus infections, pemphigus, bullous pemphigoid and pemphigoid gestationis, epidermolysis bullosa acquisita, IgA-related dermatoses, inherited epidermolysis bullosa variants, Hailey-Hailey disease, and porphyria cutanea tarda...
December 14, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28094886/the-parathyroid-hormone-family-member-tip39-interacts-with-sarco-endoplasmic-reticulum-ca-2-atpase-activity-by-influencing-calcium-homeostasis
#9
Emi Sato, Michael R Williams, James A Sanford, George L Sen, Takekuni Nakama, Shinichi Imafuku, Richard L Gallo
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. Here, we report establishment of a three-dimensional (3D) epidermal model of DD, and use this model to evaluate peptide therapy with tuberoinfundibular peptide of 39 residues (TIP39) to normalize calcium transport...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28052370/acantholytic-dermatosis-of-the-vagina-the-diagnostic-challenge-of-acantholytic-disease-in-the-genital-region
#10
J Kentley, R Cerio, M Khorshid, K Gibbon
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. These findings were consistent with acantholytic dermatosis (AD), a rare lesion that resembles Hailey-Hailey and Darier disease histopathologically, but can be distinguished on a clinical basis...
January 4, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28035777/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
#11
Ruud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
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. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28008204/novel-and-recurrent-atp2a2-mutations-in-japanese-patients-with-darier-s-disease
#12
Kana Noda, Takuya Takeichi, Yusuke Okuno, Hiromichi Takama, Shunsuke Miura, Shinji Kagami, Haruko Hino, Yuki Nakamura, Yumi Fujio, Izumi Konohana, Ayako Otani, Hideki Mukai, Kazumitsu Sugiura, Masashi Akiyama
Darier's disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes the cardiac muscle SERCA2a protein and the ubiquitously expressed SERCA2b. SERCA2 plays an important role as a calcium pump. It is thought that a mutation in ATP2A2 causes dyskeratosis and abnormality of cell-cell adhesion...
December 2016: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/27979330/-what-surgery-for-recurrent-darier-ferrand-sarcoma-of-the-chest-wall
#13
S Rabiou, Y Ouadnouni, B Efared, L Belliraj, I Issoufou, F Z Ammor, J Ghalimi, M Lakranbi, R Sani, A Oufkir, M Smahi
INTRODUCTION: Dermatofibrosarcoma protuberans (Darrier-Ferrand sarcoma, DFSP) is an uncommon tumor. This sarcoma has a tendency to local recurrence, requiring a wide surgical resection. OBSERVATION: We report herein two cases of patients presenting with recurrent dermatofibrosarcoma protuberans after several surgical resections. A wide surgical resection with guided tissue regenaration has been performed in one case, whereas the second case required a skin graft...
December 12, 2016: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/27902815/papulovesicular-eruption-in-a-pregnant-woman-with-darier-disease
#14
Carolyn Stull, Niraj Butala, Warren R Heymann
No abstract text is available yet for this article.
November 30, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27721754/exacerbation-of-darier-disease-under-interferon-%C3%AE-2a-therapy-with-clinical-signs-of-lichen-nitidus
#15
Ioannis Karagiannidis, Martina Brunner, Christos C Zouboulis
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. We report on a 48-year-old German woman with a flare-up of Darier disease under interferon-α-2a (IFNα-2a) therapy with clinical signs of lichen nitidus...
May 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27663152/acrokeratosis-verruciformis-of-hopf-exhibiting-darier-disease-like-cytological-features
#16
M Harman, M Durdu, I İbiloğlu
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. Although cytological findings have been described in DD, no study has identified the cytological changes in AVH. We report a case of AVH exhibiting a DD-like cytological manifestation...
October 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27629152/darier-s-sign-in-cutaneous-plasmacytosis
#17
Hiroshi Nagai, Chikako Nishigori
No abstract text is available yet for this article.
December 1, 2016: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/27617605/segmental-lesions-along-blaschko%C3%A2-s-lines-in-an-elderly-man
#18
Fátima Tous Romero, Sara Burillo Martinez, Carlos Raya-Morales, Vanessa Gargallo-Moneva, Lidia Maroñas-Jiménez
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...
June 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617470/diclofenac-sodium-3-gel-for-darier-s-disease-treatment
#19
Sergio Santos-Alarcon, Celia Sanchis-Sanchez, Almudena Mateu-Puchades
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%...
April 18, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27613297/dermoscopy-in-general-dermatology-a-practical-overview
#20
REVIEW
Enzo Errichetti, Giuseppe Stinco
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. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, Darier disease and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), hypopigmented macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, Dowling-Degos disease, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, urticaria pigmentosa and telangiectasia macularis eruptiva perstans), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), erythrodermas (due to psoriasis, atopic dermatitis, mycosis fungoides, pityriasis rubra pilaris and scabies), noninfectious balanitis (Zoon's plasma cell balanitis, psoriatic balanitis, seborrheic dermatitis and non-specific balanitis) and erythroplasia of Queyrat, inflammatory cicatricial alopecias (scalp discoid lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia and folliculitis decalvans), nonscarring alopecias (alopecia areata, trichotillomania, androgenetic alopecia and telogen effluvium) and scaling disorders of the scalp (tinea capitis, scalp psoriasis, seborrheic dermatitis and pityriasis amiantacea)...
December 2016: Dermatology and Therapy
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