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Darier's Disease (darier + disease)
Selected AbstractsPreliminary evaluation of in vivo reflectance confocal microscopy features of discoid lupus erythematosusBRITISH JOURNAL OF DERMATOLOGY, Issue 6 2007M. Ardig̣ Summary Background, Discoid lupus erythematosus (DLE) can simulate other inflammatory diseases both clinically and histologically. In vivo reflectance confocal microscopy (RCM) is a noninvasive, reproducible imaging technique already reported to be useful in the evaluation of several inflammatory skin conditions such as contact dermatitis, psoriasis and Darier disease. Objectives, The aims of our study were to define RCM features of DLE and to evaluate its feasibility in biopsy site selection. Methods, Discoid lesions were selected for RCM evaluation from 10 patients with an established diagnosis of DLE. Subsequently, a 4-mm punch biopsy of the same areas evaluated with RCM was rendered for histopathological examination. Results, A series of RCM features of DLE was identified and shown to correlate well with histopathological evaluation. Interface changes, as well as epidermal, dermal and adnexal inflammatory cell infiltration, were identified with RCM in a high percentage of the lesions. A limitation of RCM examination besides imaging depth was the inability to distinguish lymphocytes from other white blood cells. Conclusions, The utility of RCM as a diagnostic tool for DLE awaits further evaluation, although it appears to be promising for biopsy site selection. [source] Letter: Botulinum Toxin Type A: An Alternative Symptomatic Management of Darier's DiseaseDERMATOLOGIC SURGERY, Issue 7 2007GEORGE KONTOCHRISTOPOULOS MD No abstract is available for this article. [source] A unique variant of Darier's diseaseINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2001Christopher M. Peterson MD A 45-year-old black woman presented with a chief complaint of an increasing number of ,,light spots'' on her face, upper trunk, and legs. She had a 4-year history of a pruritic eruption on the dorsum of her hands. The eruption was particularly pruritic in the summer months. Other family members, including her sister and her daughters, reportedly had a similar dermatologic problem. The patient had been previously evaluated and biopsied by another dermatologist. The earlier biopsy was nondiagnostic, however, and she presented for further evaluation of this problem. On physical examination, the patient had hypopigmented macules along her jawline (Fig. 1), lateral neck, and upper chest. She had similar hypopigmented macules on her thighs. She had hyperkeratosis of the palmoplantar surface of her hands and feet. The dorsum of her hands had numerous coalescing, shiny, flat-topped, hypopigmented papules (Fig. 2), and several of her fingernails had distal, V-shaped notching. Figure 1. Hypopigmented macules on the cheek and along the jawline Figure 2. Coalescing, hypopigmented papules on the dorsal aspect of the fingers and hand, with distal notching of the fingernails A punch biopsy from a papule on the dorsum of her hand was obtained. The epidermis had corps ronds present with focal areas of acantholysis above the basal layer (Fig. 3). The dermis had sparse, superficial, perivascular infiltrates composed of lymphocytes and histiocytes. These changes were consistent with our clinical diagnosis of Darier's disease (keratosis follicularis). Figure 3. Corps ronds (large arrow) and focal acantholysis with suprabasal clefts (small arrow) are present in the epidermis (hematoxylin and eosin; original magnification, ×,40) [source] Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's diseaseJOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2001Megumi Hakuno Background: Autoimmune blistering diseases, pemphigus vulgaris (PV) and pemphigus foliaceus (PF), are known to be caused by binding of autoantibodies to the desmosomal cadherins, desmoglein 3 and desmoglein 1, respectively. Recently, mutations in the genes coding Ca2+ pumps leads to inherited blistering diseases, Hailey-Hailey disease (HHD) and Darier's disease (DD). Cadherins are a family of Ca2+ -dependent cell adhesion molecules and P-cadherin is one of the major cadherins expressed in the epidermis. Although detailed mechanisms of acantholysis of these blistering diseases have not been fully clarified, abnormal expression of cadherins caused by altered Ca2+ concentration due to the binding of autoantibodies to cell surface or by mutations in Ca2+ pumps is suggested to be involved in mechanisms of acantholysis of these atuoimmune and inherited blistering diseases. The purpose of the present study was to determine whether altered P-cadherin expression is present in these diseases. Method: Distribution patterns of P-cadherin in skin specimens from patients with PV (n=2), PF (n=2), HHD (n=4) and DD (n=3), were examined with confocal laser scanning microscopy using two anti-P-cadherin antibodies, 6A9 and NCC-CAD-299. Results: In normal control skin, P-cadherin expression was restricted to the basal layer. In contrast, positive immunostaining of P-cadherin was observed not only in the basal cells, but also in the suprabasal cells in lesional skin of all the acantholytic diseases. Conclusions: The present results clearly demonstrated that upregulation of P-cadherin expression occurs in the acantholysis in all the four blistering diseases PV, PF, HHD and DD. Upregulation of P-cadherin may be involved in the pathomechanism of both the autoimmune blistering diseases and the inherited blistering diseases. [source] Histological characterization of Darier's disease in Tunisian familiesJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2009S Kassar Abstract Background, Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase type 2 isoform (SERCA2). Objective, We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. Results, The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient. Conclusion, Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation. [source] Photodynamic therapy in a patient with Darier's diseaseJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 7 2006SC Van't Westeinde No abstract is available for this article. [source] Clinicopathological study of Fox,Fordyce diseaseTHE JOURNAL OF DERMATOLOGY, Issue 9 2009Pei-Han KAO Abstract Fox,Fordyce disease (FFD) is a rare skin disease manifesting as multiple pruritic follicular papules involving the skin-bearing apocrine glands. Reports of FFD in Asian people are scant. In this retrospective study, we describe the clinicopathological findings of five cases of FFD affecting Taiwanese subjects. Clinically, all patients presented with numerous uniform, 2,3-mm, skin-colored to light brown, dome-shaped papules with smooth surface, which were distributed in the apocrine gland-containing areas. Pruritus varied from mild to severe. The histopathology is characterized by focal spongiosis in the upper infundibulum with perifollicular fibrosis and lymphohistiocytic infiltrate. FFD needs to be differentiated from lichen amyloidosis, Darier's disease, syringoma, lichen simplex chronicus and spongiotic dermatitis clinically or pathologically. The findings of focal spongiosis in upper infundibulum associated with a perifollicular lymphohistiocytic infiltrate can facilitate the diagnosis of FFD. [source] Clinical improvement in Darier's disease with photodynamic therapyAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2010Helen L Avery ABSTRACT We report a patient with Darier's disease successfully treated with photodynamic therapy. She had previously been recalcitrant to treatment with emollients, topical corticosteroids and retinoids. Photodynamic therapy was trialled with significant clinical improvement in her cutaneous symptoms and signs that was maintained for over 27 months. [source] Darier's disease in SingaporeBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2005B.K. Goh Summary Background, Darier's disease is a rare, dominantly inherited genodermatosis. Although it has been well studied in caucasians, very little is known about the clinical spectrum of this disorder among Asians. Objectives, To determine the demographic and clinical profile of Asian patients with Darier's disease. Methods, This is a retrospective study of all new cases of Darier's disease seen in our centre over a 20-year period (1982,2002). Results, Twenty-four nonrelated cases of Darier's disease were studied. The incidence rate was 3·1 per million per decade. The gender distribution was 19 males and five females, and the ethnic origin was 21 Chinese, two Malays and one Nepalese. The peak age of onset was between 11 and 20 years. Sun exposure exacerbated the disease in 13 of the patients, and three had neuropsychiatric disorders. The disease affected predominantly seborrhoeic areas in 19 patients, flexural in three, acral in one and was segmental in one patient. Hand involvement was common and included palmar pits in nine patients, acrokeratosis verruciformis in four and nail changes in 12 patients. Haemorrhagic macules were not seen. Rare features included oral mucosal lesions (two patients) and guttate leucoderma (three patients). Pathogens involved in cutaneous infections included herpes simplex virus, Staphylococcus aureus, Streptococcus species and Morganella morgani. All patients treated with oral retinoids had improvement of clinical signs. In contrast, the response to topical retinoids was poor. Conclusions, Compared with western studies, our results show a similar incidence rate, age of onset, distribution of disease patterns and association with neuropsychiatric disorders. Features that differ include co-occurrence of guttate leucoderma, rarity of acrokeratosis, absence of haemorrhagic macules and poor response to topical retinoids. [source] A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutationBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2003T. Wada Summary Darier's disease is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease. Segmental Darier's disease is a rare type of Darier's disease in which there is characteristic localization of the keratotic papules in a linear pattern following Blaschko's lines. In this study we examined ATP2A2 mutations in a Japanese patient with segmental Darier's disease. The samples from affected skin, unaffected skin and peripheral leucocytes were subjected to polymerase chain reaction (PCR). Direct sequencing of the PCR products was performed. Sequence analysis revealed that the patient had 160A,G substitution mutation which predicts I54V. This novel mutation was present in the affected skin, but not in the unaffected skin or peripheral leucocytes. This is the first report of segmental Darier's disease caused by mosaicism for an ATP2A2 mutation in Japan. [source] The behaviour of Bcl-2, Bax and Bcl-x in Darier's diseaseBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2002M.R. Bongiorno SummaryBackground Darier's disease (DD) is a rare autosomal dominant disorder of keratinization caused by a mutation of the ATP2A2 gene. There is little information on the behaviour of Bcl-2, Bax and Bcl-x in DD. Objectives To investigate the dynamic control and the behaviour of Bax, Bcl-2 and Bcl-x in DD. We asked whether members of the Bcl-2 family might manifest their effects through modulation of intracellular calcium signalling or whether the gene that encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) modulates the Bcl-2 family in the regulation of apoptosis in DD. Methods Immunohistochemical methods were used. Results There was no immunoreactivity for Bcl-2 and Bcl-x in epidermal keratinocytes in lesional epidermis. Staining for Bax was evident in the cells of the perilesional uninvolved skin, but decreased in the epidermal cells of lesional involved skin. Conclusions The decrease or absence of Bcl-2 and Bcl-x and the imbalance of Bax in the epithelial cells of affected DD skin is likely to be an important control point determined by the genetic mutation of SERCA2, which modifies the programme of the antiapoptotic proteins. The consequent imbalance of the factors controlling apoptosis in keratinocytes underlines another apoptotic pathway responsible for the dyskeratotic cells in DD. [source] Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 geneBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2000J. Powell No abstract is available for this article. [source] Multiple white papules in the palate: oral manifestation of Darier's diseaseCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 7 2009D. G. Bernabé No abstract is available for this article. [source] Histological characterization of Darier's disease in Tunisian familiesJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2009S Kassar Abstract Background, Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase type 2 isoform (SERCA2). Objective, We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. Results, The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient. Conclusion, Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation. [source] | ||||||||||