Background: Birt- Hogg- Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may ...Background: Birt- Hogg- Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may suffer from associated renal and colonic carcinomas. The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients. Objectives: This study reports the first Asian family that has been demonstrated to carry a BHD mutation. Patients/methods: The proband was a 26- year- old Japanese man with multiple asymptomatic, soft skin- coloured papules on his face, neck and trunk, which were clinically thought to be acrochordon. His father was also affected. Histopathologically, the papules revealed a fibrofolliculoma that had a circumscribed proliferation of fibroblasts and collagen fibres surrounding an abnormal hair follicle. Results: Mutational analysis of the BHD gene of the proband and the father detected 1733insC, a cytosine insertion mutation in an eight- cytosine tract (nucleotides 1733- 1740) in exon 11. Analysis of fibrofolliculoma in the proband showed heterozygous 1733insC mutation, suggesting the absence of loss of heterozygosity. Interestingly, previous mutational analysis in Caucasian patients revealed that both1733insC and 1733delC mutations were hot spots. Conclusions: This study is the first to find the same hot- spot 1733insC mutation in Asian kindred. The mutations in this polycytosine tract may have a wide, global distribution despite their arising from a different ethnic background.展开更多
Leuprorelin acetate, an agonist of gonadotropin- releasing hormone (GnRH), is indicated in the treatment of prostate cancer. Recently, depot formulations of leuprorelin acetate have been widely used. We report three p...Leuprorelin acetate, an agonist of gonadotropin- releasing hormone (GnRH), is indicated in the treatment of prostate cancer. Recently, depot formulations of leuprorelin acetate have been widely used. We report three patients who showed a granulomatous reaction after treatment using a leuprorelin acetate 3- month depot formulation. These patients presented with 56- cm subcutaneous nodules at injection sites, which developed after the depot type was changed from a 1- month to a 3- month formulation. Skin biopsy showed epithelioid cells and foreign body giant cells containing round, translucent microspheres which formed sarcoidal granulomas. Changing to other GnRH agonists resulted in no further problems. We have reviewed the previous reports of leuprorelin acetate- induced granuloma formation. The formation of such granulomas may be related to the polymers that allow slow release after injection, or leuprorelin acetate itself may be responsible. The depot injection methods using leuprorelin also seem to have a causal effect in granuloma formation. Dermatologists need to know that depot leuprorelin acetate may cause a granulomatous reaction which produces a subcutaneou snodule that might be misdiagnosed as a malignant tumour.展开更多
Twenty-five-and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with d...Twenty-five-and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.展开更多
Pyoderma gangrenosum(PG) is a neutrophilic dermatosis characterized by destructive,necrotizing and noninfective ulceration of the skin mostly on lower extremities PG is well known as a complication of Takayasus arte...Pyoderma gangrenosum(PG) is a neutrophilic dermatosis characterized by destructive,necrotizing and noninfective ulceration of the skin mostly on lower extremities PG is well known as a complication of Takayasus arteritis in Japan, However, this association is not commonly observed in North American and European patients We describe a case of PG that was associated with Takayasus arteritis who was successfully treated with systemic cyclosporin We have reviewed 35 well documented PG cases with Takayasus arteritis in comparison to 106 PG cases without Takayasus arteritis The results demonstrate that this association occurs pred ominantly in young females and that these cases exhibit more widespread PG展开更多
This paper reports a unique case of coexistence of vitiligo vulgaris, lichen planus and psoriasis vulgaris in a 53-year-old man. Five years after the onset of vitiligo, lichen planus developed on his lower lip. Anothe...This paper reports a unique case of coexistence of vitiligo vulgaris, lichen planus and psoriasis vulgaris in a 53-year-old man. Five years after the onset of vitiligo, lichen planus developed on his lower lip. Another 4 years after the onset of lichen planus, he also exhibited psoriasis on his upper arms and trunk. Both the lichen planus and psoriasis occurred on lesions of the preceding vitiligo vulgaris. We discuss potential mechanisms for association of these three dermatoses, including Koebner phenomenon and photodamage.展开更多
文摘Background: Birt- Hogg- Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis characterized by skin tumours, including multiple fibrofolliculomas, trichodiscomas and acrochordons. BHD patients also may suffer from associated renal and colonic carcinomas. The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients. Objectives: This study reports the first Asian family that has been demonstrated to carry a BHD mutation. Patients/methods: The proband was a 26- year- old Japanese man with multiple asymptomatic, soft skin- coloured papules on his face, neck and trunk, which were clinically thought to be acrochordon. His father was also affected. Histopathologically, the papules revealed a fibrofolliculoma that had a circumscribed proliferation of fibroblasts and collagen fibres surrounding an abnormal hair follicle. Results: Mutational analysis of the BHD gene of the proband and the father detected 1733insC, a cytosine insertion mutation in an eight- cytosine tract (nucleotides 1733- 1740) in exon 11. Analysis of fibrofolliculoma in the proband showed heterozygous 1733insC mutation, suggesting the absence of loss of heterozygosity. Interestingly, previous mutational analysis in Caucasian patients revealed that both1733insC and 1733delC mutations were hot spots. Conclusions: This study is the first to find the same hot- spot 1733insC mutation in Asian kindred. The mutations in this polycytosine tract may have a wide, global distribution despite their arising from a different ethnic background.
文摘Leuprorelin acetate, an agonist of gonadotropin- releasing hormone (GnRH), is indicated in the treatment of prostate cancer. Recently, depot formulations of leuprorelin acetate have been widely used. We report three patients who showed a granulomatous reaction after treatment using a leuprorelin acetate 3- month depot formulation. These patients presented with 56- cm subcutaneous nodules at injection sites, which developed after the depot type was changed from a 1- month to a 3- month formulation. Skin biopsy showed epithelioid cells and foreign body giant cells containing round, translucent microspheres which formed sarcoidal granulomas. Changing to other GnRH agonists resulted in no further problems. We have reviewed the previous reports of leuprorelin acetate- induced granuloma formation. The formation of such granulomas may be related to the polymers that allow slow release after injection, or leuprorelin acetate itself may be responsible. The depot injection methods using leuprorelin also seem to have a causal effect in granuloma formation. Dermatologists need to know that depot leuprorelin acetate may cause a granulomatous reaction which produces a subcutaneou snodule that might be misdiagnosed as a malignant tumour.
文摘Twenty-five-and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.
文摘Pyoderma gangrenosum(PG) is a neutrophilic dermatosis characterized by destructive,necrotizing and noninfective ulceration of the skin mostly on lower extremities PG is well known as a complication of Takayasus arteritis in Japan, However, this association is not commonly observed in North American and European patients We describe a case of PG that was associated with Takayasus arteritis who was successfully treated with systemic cyclosporin We have reviewed 35 well documented PG cases with Takayasus arteritis in comparison to 106 PG cases without Takayasus arteritis The results demonstrate that this association occurs pred ominantly in young females and that these cases exhibit more widespread PG
文摘This paper reports a unique case of coexistence of vitiligo vulgaris, lichen planus and psoriasis vulgaris in a 53-year-old man. Five years after the onset of vitiligo, lichen planus developed on his lower lip. Another 4 years after the onset of lichen planus, he also exhibited psoriasis on his upper arms and trunk. Both the lichen planus and psoriasis occurred on lesions of the preceding vitiligo vulgaris. We discuss potential mechanisms for association of these three dermatoses, including Koebner phenomenon and photodamage.
