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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
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
Hiroshi Nagai, Chikako Nishigori
No abstract text is available yet for this article.
September 14, 2016: European Journal of Dermatology: EJD
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...
2016: Dermatology Online Journal
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%...
2016: Dermatology Online Journal
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)...
September 9, 2016: Dermatology and Therapy
Valeria Chiavetta, Corrado Romano, Francesco Calì, Giuseppa Ruggeri, Maddalena Siragusa, Donatella Greco, Valentino Romano, Carmelo Schepis
No abstract text is available yet for this article.
October 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Xiaoyan Zhao, Yong Gu, Xufeng Du, Minhua Shao, Hao Luo, Lude Zhu, Qian Zhou, Guolong Zhang
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. PCR was performed to amplify all coding exons of the ATP2A2 gene...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Arnaud Payerols, Eric Frouin, Aurélie Schiffmann, Nicolas Menjot de Champfleur, Danielle Canioni, Olivia Chandesris, Valérie Costes, Max Villain, Frédéric Mura
PURPOSE: Mastocytosis is characterized by clonal mast cell proliferation with accumulation within various organs and uncontrolled activation with excessive mast cell mediator release. Ocular manifestations have rarely been published. We describe a 63-year-old man with bilateral exophthalmos that led to the diagnosis of systemic mastocytosis. CASE REPORT: A patient presented with bilateral eyelid edema with exophthalmos associated with binocular diplopia. Ophthalmologic examination showed bilateral axial, symmetrical, and painless exophthalmos with eyelid edema, and limitation in elevation of the right eye...
August 24, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Kara Melissa Tiangco Torres, Jacqueline M Junkins-Hopkins
Acantholytic dyskeratosis (AD) is a histologic pattern seen in Darier's disease or dyskeratosis follicularis, warty dyskeratoma, and transient AD. This pattern is characterized by suprabasilar clefting, acantholysis, and formation of corps ronds and grains. We present a case of AD that is unique based on its genital location and cystic architecture. A 53-year-old woman presented with an otherwise asymptomatic cyst on her left vulva of uncertain duration. On microscopic examination, there were fragments of cystic epithelium with areas of hypergranulosis, acantholysis, corps ronds, and corps grains formation...
July 2016: Indian Dermatology Online Journal
Nafiseh Sadat Nabavi, Masumeh Hosseini Nejad, Shahab Feli, Behnoosh Bakhshoodeh, Pouran Layegh
Xanthelasmoid or pseudoxanthomatous mastocytosis is an extremely rare variant of diffuse cutaneous mastocytosis. Herein, we describe an adult male with cutaneous mastocytosis showing multiple widespread yellowish ovoid papules like eruptive xanthoma. A 60-year-old male visited our outpatient clinic with a 1-year history of generalized yellowish, ovoid, and skin color papular eruption located on the trunk, groin, extremities, with the modest pruritus. Vital signs were stable, and Darier's sign was negative. No other subjective and objective signs were detected during the examination...
July 2016: Indian Journal of Dermatology
Dennis Linder, Elena Marinello, Pietro Maria Donisi, Roberto Salmaso, Edoardo Zattra, Anna Zampetti
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. We described the case of an aged woman presenting with LDD, and we review the literature on this subject...
May 2016: Case Reports in Dermatology
Georges Bou Nassif, Maria Gomez Galdon, Gabriel Liberale
Leiomyomatosis peritonealis disseminata (LPD) is typically a benign and rare disorder found in female patients, prior to menopause. It can be found in the subperitoneal or peritoneal spaces and is represented by multiple different sized myomatous nodules (smooth muscle tumors). Additionally, it has also been found in women after menopause as well as in men. Despite the fact that high levels of estrogen and progesterone play a significant role in this disorder, the mechanism behind LPD development and a definitive therapeutic concept has yet to be conceived...
May 26, 2016: Acta Chirurgica Belgica
E Forbat, F R Ali, F Al-Niaimi
Botulinum neurotoxin (BoNT) is renowned for its inhibitory effects on the neuromuscular junction. The evidence for its use in cosmetic dermatology and in non-dermatological indications is well established. We have systemically analysed the evidence for the non-cosmetic dermatological uses of BoNT. This review presents the many small studies showing promising results for the use of BoNT in a multitude of dermatological diseases, including (but not limited to) hyperhidrosis, Darier's disease, Hailey-Hailey disease, pompholyx and hidradenitis suppurativa...
July 16, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Natasha Klimas, Cameron West, Michelle Tarbox
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. OBJECTIVES: The objective of this report is to describe an uncommon presentation of Darier's disease, which has been infrequently described in the literature...
July 12, 2016: Journal of Cutaneous Medicine and Surgery
Anil G Bahali, Ozlem Su, Dilek Biyik Ozkaya, Didem Dizman, Pelin Yildiz, Cuyan Demirkesen, Nahide Onsun
No abstract text is available yet for this article.
August 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Andrea Rosario, Ramesh M Bhat
Mastocytosis is a disorder characterized by the clonal proliferation of mast cells and their accumulation in skin, bone marrow, liver, and spleen. Cutaneous mastocytosis presents in children in over 90% of the cases and any cutaneous manifestation in an adult is the earliest sign of the systemic disease. A 45-year-old patient presented with itchy dark lesions over the body since childhood and Darier's sign was positive. Skin biopsy showed features of mastocytosis and immunohistochemistry was positive for CD34...
May 2016: Indian Journal of Dermatology
Jennifer Ornelas, Raja Sivamani, Smita Awasthi
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.
July 2016: Pediatric Dermatology
Rony Shreberk-Hassidim, Sivan Sheffer, Liran Horev, Abraham Zlotogorski, Yuval Ramot
No abstract text is available yet for this article.
July 2016: Dermatologic Therapy
Enzo Errichetti, Vincenzo Maione, Enrico Pegolo, Giuseppe Stinco
Type 1 segmental Darier's disease is a blaschkolinear variant of Darier's disease resulting from a postzygotic mosaicism. Since it usually lacks diagnostic clues typical of the generalized form, including positive family history of the disease, nail and mucosal abnormalities, and/or acral involvement, its distinction from other acquired inflammatory blaschkolinear dermatoses may often be quite challenging, thus requiring histopathological examination to reach a definitive diagnosis. We report a case of type 1 segmental Darier's disease with its dermoscopic findings in order to show the usefulness of dermoscopy in assisting the noninvasive identification of this condition...
April 2016: Dermatology Practical & Conceptual
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