Myofibroblastoma and Darier Ferrand’s dermatofibrosarcoma are rare entities that are similar both in terms of clinical morphological characteristics and histological characteristics. We report the case of a 49-year-o...Myofibroblastoma and Darier Ferrand’s dermatofibrosarcoma are rare entities that are similar both in terms of clinical morphological characteristics and histological characteristics. We report the case of a 49-year-old non-menopausal woman with a history of right breast lumpectomy. Supported by the Chompret criteria, an oncogenetic consultation was performed. Clinical examination revealed a firm 25 mm mass on the medial part of the left breast with skin involvement. A biopsy was performed and analysis result came back in favor of a cellular type myofibroblastoma showing a fibrous component consisting of spindle cells with a herringbone arrangement. Anatomopathological results concluded to a dermatofibrosarcoma of Darier Ferrand while immunohistochemistry stated a tumor population strongly positive for CD34 expression. The search for a rearrangement of the collagen type I alpha 1 gene (COL1A1) by fluorescence in situ hybridization (FISH) was positive. The diagnosis of Dermatofibrosarcoma of Darier Ferrand can be suspected on imaging and confirmed by histology. Surgical treatment of Darier Ferrand dermatofibrosarcoma consists of wide excision of the lesions with margins greater than 2 cm, on which the prognosis mainly depends. Micrographic surgery and oncoplastic breast surgery are of major interest in this location.展开更多
Darier’ s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the A...Darier’ s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F)- and one splice-site mutation (1288- 6A → G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype-phenotype correlations.展开更多
Darier disease (DD), also known as follicular keratosis, is a rare autosomal dominant hereditary acantholytic dermatosis caused by a mutation in the ATP2A2 gene. Skin lesions are characterized by persistent confluent ...Darier disease (DD), also known as follicular keratosis, is a rare autosomal dominant hereditary acantholytic dermatosis caused by a mutation in the ATP2A2 gene. Skin lesions are characterized by persistent confluent papules, preferentially located on the seborrheic areas of the face, chest and back. The hands, feet and nails are also commonly affected. DD has a chronic course with frequent relapses. Their treatment is often difficult and unsatisfactory. We present the case of a 54-year-old male with a history of keratotic papules with a brownish-black color, with a foul-smelling, pruritic and ardent appearance on the back and trunk, since the age of 19, which worsen in the summer. His 27-year-old daughter has a similar picture with her skin lesions started at age of 17 in the region below the breast, back, trunk, feet and hands. After the skin biopsy, the diagnosis was confirmed and acitretin 30 mg/day was instituted. The importance of this case report is to alert health professionals that the diagnosis of DD should be considered in family members of patients, especially those in the first degree, and also in patients with follicular keratolytic dermatoses, being an important differential diagnosis of this group of patients diseases.展开更多
Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associ...Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. The serum lipid profile, liver function and renal function within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.展开更多
We report the case of a human immunodeficiency virus-positive patient presenting linear Darier disease with varicella-zoster virus superinfection following the lines of Blaschko. The lesions healed after treatment wit...We report the case of a human immunodeficiency virus-positive patient presenting linear Darier disease with varicella-zoster virus superinfection following the lines of Blaschko. The lesions healed after treatment with brivudine.展开更多
Background:Hailey-Hailey disease (HHD) (OMIM 16960) and Darier disease (DD) (OMIM 124200) are dominantly inherited acantholytic skin diseases, respectively, caused by mutations in the genes encoding the Golgi secretor...Background:Hailey-Hailey disease (HHD) (OMIM 16960) and Darier disease (DD) (OMIM 124200) are dominantly inherited acantholytic skin diseases, respectively, caused by mutations in the genes encoding the Golgi secretory pathway Ca2+-ATPase (SPCA1, ATP2C1) and the sarco/endoplasmic reticulum Ca2+ATPase type 2 (SERCA2, ATP2A2) genes. Objectives:To investigate calcium regulation in keratinocytes cultured from patients with HHD and DD by measuring intracellular calcium resting levels and the cellular responses to ATP and thapsigargin. Methods The study was carried out using keratinocyte cultures established from four patients with HHD and four with DD. Calcium concentrations were measured with fluorescence ratio imaging using fura-2 loading. Results:Control and HHD keratinocytes displayed approximately the same Ca2+levels in resting phase, while DD keratinocytes showed elevated Ca2+levels. Application of ATP caused less pronounced elevation of intracellular calcium concentration ([Ca2+] i) in both HHD and DD keratinocytes than in control cells. HHD keratinocytes did not lower their [Ca2+] i as efficiently as control keratinocytes after treatment with thapsigargin. In addition, DD keratinocytes were practically incapable of lowering their [Ca2+]i after treatment with thapsigargin. Conclusions:The results demonstrate that the defects in SPCA1 and SERCA2 calcium ATPases result in distinct patterns of calcium metabolism. This is also supported by the different clinical features of the diseases.展开更多
Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition du...Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition due to a mutation in the SERCA2 12q23q24,1 resulting in a faulty organization of the tonofilaments. We pr esent two siblings affected with the linear form of this disorder and discuss th ese cases as an example of the genetic mechanism of loss of heterozygosity. Case reports. A 7 year-old girl was referred for evaluation of linear lesions prese nt since the first year of age. Examination disclosed red, 1 to 2 mmpapulesthatc oalescedtoformlinearplaquesontheleftside of the vulvar and perianal areas, and o n the left hand and foot. Her older brother had similar lesions in a linear arra ngement on the left side of the face neck and homolateral foot. No lesions were found in their parents. Biopsies of both affected children revealed an intraepid ermal suprabasal cleft. Dyskeratotic cells were present in the spinous layer, an d corps ronds and grains near the granular layer. Discussion. The linear form of Darier’s disease could result from genetic mosaicism for this autosomal domina nt disorder. As these children have a more pronounced involvement than the usual Darier’s disease lesions, disposed in a linear arrangement, they probably repr esent a type 2 segmental manifestation of the disorder. Likewise, the presence o f the same linear disorder in two siblings could be explained by loss of heteroz ygosity for the Darier’s disease gene.展开更多
Background: Nail thickening of idiopathic or hereditary aetiology originating in the matrix is difficult to treat. Objective: The purpose is to describe an easy surgical technique to reduce the thickness of the nail. ...Background: Nail thickening of idiopathic or hereditary aetiology originating in the matrix is difficult to treat. Objective: The purpose is to describe an easy surgical technique to reduce the thickness of the nail. Methods and results: The result is achieved by shortening the matrix with an excellent cosmetic appearance in the newly formed nail plate. Conclusion: Nail thickening in Darier s disease originating in the matrix, and other similar hereditary or idiopathic conditions, may benefit from this surgical approach.展开更多
文摘Myofibroblastoma and Darier Ferrand’s dermatofibrosarcoma are rare entities that are similar both in terms of clinical morphological characteristics and histological characteristics. We report the case of a 49-year-old non-menopausal woman with a history of right breast lumpectomy. Supported by the Chompret criteria, an oncogenetic consultation was performed. Clinical examination revealed a firm 25 mm mass on the medial part of the left breast with skin involvement. A biopsy was performed and analysis result came back in favor of a cellular type myofibroblastoma showing a fibrous component consisting of spindle cells with a herringbone arrangement. Anatomopathological results concluded to a dermatofibrosarcoma of Darier Ferrand while immunohistochemistry stated a tumor population strongly positive for CD34 expression. The search for a rearrangement of the collagen type I alpha 1 gene (COL1A1) by fluorescence in situ hybridization (FISH) was positive. The diagnosis of Dermatofibrosarcoma of Darier Ferrand can be suspected on imaging and confirmed by histology. Surgical treatment of Darier Ferrand dermatofibrosarcoma consists of wide excision of the lesions with margins greater than 2 cm, on which the prognosis mainly depends. Micrographic surgery and oncoplastic breast surgery are of major interest in this location.
文摘Darier’ s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F)- and one splice-site mutation (1288- 6A → G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype-phenotype correlations.
文摘Darier disease (DD), also known as follicular keratosis, is a rare autosomal dominant hereditary acantholytic dermatosis caused by a mutation in the ATP2A2 gene. Skin lesions are characterized by persistent confluent papules, preferentially located on the seborrheic areas of the face, chest and back. The hands, feet and nails are also commonly affected. DD has a chronic course with frequent relapses. Their treatment is often difficult and unsatisfactory. We present the case of a 54-year-old male with a history of keratotic papules with a brownish-black color, with a foul-smelling, pruritic and ardent appearance on the back and trunk, since the age of 19, which worsen in the summer. His 27-year-old daughter has a similar picture with her skin lesions started at age of 17 in the region below the breast, back, trunk, feet and hands. After the skin biopsy, the diagnosis was confirmed and acitretin 30 mg/day was instituted. The importance of this case report is to alert health professionals that the diagnosis of DD should be considered in family members of patients, especially those in the first degree, and also in patients with follicular keratolytic dermatoses, being an important differential diagnosis of this group of patients diseases.
文摘Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good respond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. The serum lipid profile, liver function and renal function within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.
文摘We report the case of a human immunodeficiency virus-positive patient presenting linear Darier disease with varicella-zoster virus superinfection following the lines of Blaschko. The lesions healed after treatment with brivudine.
文摘Background:Hailey-Hailey disease (HHD) (OMIM 16960) and Darier disease (DD) (OMIM 124200) are dominantly inherited acantholytic skin diseases, respectively, caused by mutations in the genes encoding the Golgi secretory pathway Ca2+-ATPase (SPCA1, ATP2C1) and the sarco/endoplasmic reticulum Ca2+ATPase type 2 (SERCA2, ATP2A2) genes. Objectives:To investigate calcium regulation in keratinocytes cultured from patients with HHD and DD by measuring intracellular calcium resting levels and the cellular responses to ATP and thapsigargin. Methods The study was carried out using keratinocyte cultures established from four patients with HHD and four with DD. Calcium concentrations were measured with fluorescence ratio imaging using fura-2 loading. Results:Control and HHD keratinocytes displayed approximately the same Ca2+levels in resting phase, while DD keratinocytes showed elevated Ca2+levels. Application of ATP caused less pronounced elevation of intracellular calcium concentration ([Ca2+] i) in both HHD and DD keratinocytes than in control cells. HHD keratinocytes did not lower their [Ca2+] i as efficiently as control keratinocytes after treatment with thapsigargin. In addition, DD keratinocytes were practically incapable of lowering their [Ca2+]i after treatment with thapsigargin. Conclusions:The results demonstrate that the defects in SPCA1 and SERCA2 calcium ATPases result in distinct patterns of calcium metabolism. This is also supported by the different clinical features of the diseases.
文摘Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition due to a mutation in the SERCA2 12q23q24,1 resulting in a faulty organization of the tonofilaments. We pr esent two siblings affected with the linear form of this disorder and discuss th ese cases as an example of the genetic mechanism of loss of heterozygosity. Case reports. A 7 year-old girl was referred for evaluation of linear lesions prese nt since the first year of age. Examination disclosed red, 1 to 2 mmpapulesthatc oalescedtoformlinearplaquesontheleftside of the vulvar and perianal areas, and o n the left hand and foot. Her older brother had similar lesions in a linear arra ngement on the left side of the face neck and homolateral foot. No lesions were found in their parents. Biopsies of both affected children revealed an intraepid ermal suprabasal cleft. Dyskeratotic cells were present in the spinous layer, an d corps ronds and grains near the granular layer. Discussion. The linear form of Darier’s disease could result from genetic mosaicism for this autosomal domina nt disorder. As these children have a more pronounced involvement than the usual Darier’s disease lesions, disposed in a linear arrangement, they probably repr esent a type 2 segmental manifestation of the disorder. Likewise, the presence o f the same linear disorder in two siblings could be explained by loss of heteroz ygosity for the Darier’s disease gene.
文摘Background: Nail thickening of idiopathic or hereditary aetiology originating in the matrix is difficult to treat. Objective: The purpose is to describe an easy surgical technique to reduce the thickness of the nail. Methods and results: The result is achieved by shortening the matrix with an excellent cosmetic appearance in the newly formed nail plate. Conclusion: Nail thickening in Darier s disease originating in the matrix, and other similar hereditary or idiopathic conditions, may benefit from this surgical approach.
