Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The h...Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The histiocytes are immunopositive for S100 protein and are typically associated with an infiltrate of lymphocytes, plasma cells, and neutrophils. The classic clinical presentation is massive enlargement of (usually) cervical lymph nodes with a histologic appearance that mimics exaggerated sinus histiocytosis. RDD can also involve extranodal sites and skin involvement is common either as part of disseminated disease or as a result of primary disease. We report an exceptional case of cutaneous RDD with crystal deposition in a young male presenting with skin nodules. Skin biopsy showed classic features of cutaneous RDD with the additional feature of conspicuous rhomboidal and needle- shaped crystals within the cytoplasm of many lesional plasma cells, histiocytes, and also in an extracellular location. The plasma cells were polyclonal by light chain immunostaining. Crystal deposition has not been reported to date in RDD and is likely a result of the reactive plasma cell proliferation.展开更多
Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and specu...Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and speculate that it may be significantly under-reported due to misidentifying the causal drug, which may have serious consequences. We discuss treatment alternatives such as fondaparinux sodium, which may rarely cross-react.展开更多
We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uv...We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.展开更多
Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected...Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected individuals, who are chiefly fishermen and dock labourers. It involves regions of skin directly exposed to sea water and areas where water may course. As A. diaphanum is common in the coastal waters of Britain, Ireland and neighbouringmainland Europe, it is important for dermatologists to be aware of Dogger Bank itch. Data published in 1966 suggested that 7% of trawler- men at the UK port of Lowestoft had the condition. The current epidemiology is unknown, but the disease still occurs despite shrinkage of the fishing industry, and the condition is not confined to North Sea trawler- men as had been thought previously. It has been reported in trawler- men from Le Havre and shell fishermen from Cornwall, and we report it here in a fisherman using fixed nets in the eastern English Channel.展开更多
Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, w...Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.展开更多
Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main sy...Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.展开更多
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, a...Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and suscept-ibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previou-sly been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.展开更多
A heavily tattooed man presented with nodular, ulcerated sarcoidal lesions distributed throughout all the colours of his tattoos. The lesions developed within the confines of his tattoos 4 months into therapy with rib...A heavily tattooed man presented with nodular, ulcerated sarcoidal lesions distributed throughout all the colours of his tattoos. The lesions developed within the confines of his tattoos 4 months into therapy with ribavirin and interferon-α for chronic hepatitis C. This appears to be the first case of sarcoidosis in association with numerous pigment colours as well as dual therapy for hepatitis C.展开更多
Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2-...Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2- year history of SCLE that demonstrated a close temporal relationship with a squamous cell malignancy of the head and neck. This association has not been previously reported. We also review the evidence for SCLE as a ‘ paraneoplastic dermatosis’ and discuss the criteria for diagnosis and possible pathogenesis.展开更多
Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malign...Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malignancy. We describe four patients with variable cutaneous features, and their treatment response.展开更多
文摘Rosai- Dorfman Disease (RDD) is an idiopathic reactive proliferation of distinctive histiocytes that have abundant cytoplasm and commonly exhibit intracytoplasmic ingestion of inflammatory cells (emperipolesis). The histiocytes are immunopositive for S100 protein and are typically associated with an infiltrate of lymphocytes, plasma cells, and neutrophils. The classic clinical presentation is massive enlargement of (usually) cervical lymph nodes with a histologic appearance that mimics exaggerated sinus histiocytosis. RDD can also involve extranodal sites and skin involvement is common either as part of disseminated disease or as a result of primary disease. We report an exceptional case of cutaneous RDD with crystal deposition in a young male presenting with skin nodules. Skin biopsy showed classic features of cutaneous RDD with the additional feature of conspicuous rhomboidal and needle- shaped crystals within the cytoplasm of many lesional plasma cells, histiocytes, and also in an extracellular location. The plasma cells were polyclonal by light chain immunostaining. Crystal deposition has not been reported to date in RDD and is likely a result of the reactive plasma cell proliferation.
文摘Low-molecular-weight heparins are used extensively in acute medicine. They are generally well tolerated but may cause a rare, eczema-like type IV hypersensitivity reaction. We report 3 cases of this eruption and speculate that it may be significantly under-reported due to misidentifying the causal drug, which may have serious consequences. We discuss treatment alternatives such as fondaparinux sodium, which may rarely cross-react.
文摘We report the clinical and molecular abnormalities in a 19year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.
文摘Dogger Bank itch is an allergic contact dermatitis to the (2- hydroxyethyl) Dimethyl sulphoxonium ion, a metabolite produced by the marine Bryozoan Alcyonidium diaphanum. The condition may become disabling in affected individuals, who are chiefly fishermen and dock labourers. It involves regions of skin directly exposed to sea water and areas where water may course. As A. diaphanum is common in the coastal waters of Britain, Ireland and neighbouringmainland Europe, it is important for dermatologists to be aware of Dogger Bank itch. Data published in 1966 suggested that 7% of trawler- men at the UK port of Lowestoft had the condition. The current epidemiology is unknown, but the disease still occurs despite shrinkage of the fishing industry, and the condition is not confined to North Sea trawler- men as had been thought previously. It has been reported in trawler- men from Le Havre and shell fishermen from Cornwall, and we report it here in a fisherman using fixed nets in the eastern English Channel.
文摘Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
文摘Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and meso dermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.
文摘Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and suscept-ibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previou-sly been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.
文摘A heavily tattooed man presented with nodular, ulcerated sarcoidal lesions distributed throughout all the colours of his tattoos. The lesions developed within the confines of his tattoos 4 months into therapy with ribavirin and interferon-α for chronic hepatitis C. This appears to be the first case of sarcoidosis in association with numerous pigment colours as well as dual therapy for hepatitis C.
文摘Subacute cutaneous lupus erythematosus (SCLE) is characterized by clinical, laboratory and immunological features different from those of systemic lupus erythematosus (SLE). We describe the case of a patient with a 2- year history of SCLE that demonstrated a close temporal relationship with a squamous cell malignancy of the head and neck. This association has not been previously reported. We also review the evidence for SCLE as a ‘ paraneoplastic dermatosis’ and discuss the criteria for diagnosis and possible pathogenesis.
文摘Necrobiotic xanthogranuloma is a rare cutaneous condition that can be mistaken for atypical necrobiosis lipoidica. It has a strong association with a paraproteinaemia, which may progress to frank haematological malignancy. We describe four patients with variable cutaneous features, and their treatment response.
