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https://www.readbyqxmd.com/read/28932344/-a-pink-nodule-on-the-face
#1
Amina Kissou, Badredine Hassam
We report the case of a 32-year old female patient, with no notable medical history, requiring dermatology consultation for evaluation of a nodule on her right cheek which had evolved over the past 10 years. Clinical examination showed a reddish dermal-based nodule with a smooth surface. The lesion measured 1cm in diameter and was located at the level of the right cheek (A). There was no adenopathy and the remainder of the clinical examination was normal. The patient underwent skin biopsy which showed tumor proliferation composed of fusiform cells with poorly limited eosinophilic cytoplasm and lightly atypical elongated nuclei without mitosis and with mononuclear inflammatory cell infiltrate at the level of the dermis...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28932054/darier-disease-a-rare-genodermatosis
#2
Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar
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. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination...
May 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28905836/rare-ocular-manifestations-in-keratosis-follicularis-darier-white-disease
#3
Savitha H Kanakpur, Divya Upendra Caculo
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.
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28764581/skin-diseases-of-the-vulva-inflammatory-erosive-ulcerating-and-apocrine-gland-diseases-zinc-and-vitamin-deficiency-vulvodynia-and-vestibulodynia
#4
Freja Lærke Sand, Simon Francis Thomsen
Chronic, inflammatory and ulcerating mucocutaneous diseases that can affect the vulvar area are reviewed: lichen sclerosus, lichen planus, plasma cell vulvitis, complex aphthosis, Behcet's disease, pyoderma gangrenosum, metastatic Crohn's disease, dyskeratotic skin diseases (Hailey-Hailey disease and Darier's disease), autoimmune bullous diseases (mucous membrane pemphigoid and pemphigus vulgaris) and hidradenitis suppurativa. Also, vulvodynia and vestibulodynia, zinc and vitamin B deficiency are described.
August 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28541878/dermatosis-papular-acantol%C3%A3-tica-de-la-vulva-con-buena-respuesta-a-tacr%C3%A3-limus-t%C3%A3-pico
#5
Miguel Angel Flores-Terry, Pamela Zamberk Majlis, Monserrat Franco-Muñoz, Elena Vera-Iglesias, Mónica García-Arpa, Francisco Martín-Dávila
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. The lesions consisted of whitish papules and erosions on the labia majora. Histologically, there was hyperkeratosis and focal parakeratosis with acantholytic and dyskeratotic cells. She did not respond completely to topical steroids but clinical improvement occurred after the use of topical tacrolimus...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28507500/the-coexistence-of-darier-s-disease-and-hailey-hailey-disease-symptoms
#6
Katarzyna A Tomaszewska, Zofia Gerlicz-Kowalczuk, Magdalena Kręgiel, Marcin Noweta, Katarzyna Płużańka-Srebrzyńska, Anna Żuchowska, Andrzej Kaszuba
No abstract text is available yet for this article.
April 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28498512/recurrent-atp2a2-p-pro602leu-mutation-differentiates-acrokeratosis-verruciformis-of-hopf-from-the-allelic-condition-darier-disease
#7
Anne Ronan, Angela Ingrey, Natalia Murray, Paul Chee
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...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28426905/acantholytic-dyskeratotic-acanthoma-a-possible-skin-adverse-event-of-vemurafenib-treatment
#8
Takaya Komori, Atsushi Otsuka, Yo Kaku, Tetsuya Honda, Kenji Kabashima
Acantholytic dyskeratotic acanthoma (ADA) is a solitary small papule that is pathologically characterized by dyskeratosis with acantholytic acanthosis (1). Vemulafenib is a specific inhibitor of BRAF protein kinase with V600E mutation and is administered to treat metastatic melanoma. Various skin adverse events associated with vemurafenib, including acantholysis and flare up of Darier's disease, have been reported (2, 3). Here we report a case of ADA that developed during vemulafenib treatment for metastatic melanoma...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28426487/brief-report-hpv-17-infection-in-darier-disease-with-acrokeratosis-verrucosis-of-hopf
#9
Andrew Matsumoto, Neal Gregory, Peter L Rady, Stephen K Tyring, John A Carlson
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...
May 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28407871/acral-hemorrhagic-darier-disease
#10
M Á Flores-Terry, M García-Arpa, M Llamas-Velasco, C Mendoza-Chaparro, C Ramos-Rodríguez
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. Other classic signs of the disease may be present in the same patient or relatives. Histopathology reveals dyskeratosis and suprabasal acantholysis with hemorrhagic lacunae...
April 10, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28395432/-clinicopathological-features-of-acantholytic-mammary-paget-s-disease-a-report-of-28-cases
#11
Y P Zeng, C Chen, K Fang, Q N Jia, D L Ma
Objective: To investigate the clinicopathological features of acantholytic mammary Paget's disease (AMPD). Methods: 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. Results: The patients were all female. The mean age of onset was (51±15)years (range, 24 to 78 years). The median course of disease was 10.5 months (range, 3 months to 2 years)...
April 11, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28329545/darier-white-disease
#12
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
#13
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
#14
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...
June 2017: Dermatology and Therapy
https://www.readbyqxmd.com/read/28256765/mimickers-of-classic-acantholytic-diseases
#15
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
#16
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
#17
LETTER
C Costa, M Cappello, G Argenziano, V Piccolo, M Scalvenzi
No abstract text is available yet for this article.
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
#18
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...
April 2017: Traffic
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#19
REVIEW
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...
May 2017: 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-homoeostasis
#20
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 (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. 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...
September 2017: Experimental Dermatology
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