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1.
A set of 20-year-old female Japanese twins, most probably monozygotic, had clinical evidence of tuberous sclerosis (TS). They were discordant for symptoms. One of the twins exhibited facial red-brown papules (adenoma sebaceum), a dorsal shagreen patch, intracerebral calcifications, angiomyolipoma in the right kidney, and hypopigmented macules; the other had only a few hypopigmented macules. Modification of TS gene expression by the effects of environmental (extrinsic) factors is suggested.  相似文献   

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Genomic DNA extracted from peripheral blood mononuclear cells of monozygotic twin patients with urticaria pigmentosa was investigated for mutations of proto-oncogene c-kit. Neither the patients nor their families had genomic mutations in exon 11 or exon 17 of c-kit. The patients did not have any systemic involvement or bone marrow abnormalities. There are indications that some genetic factors may participate in the pathogenesis of urticaria pigmentosa in monozygotic twins. In the present patients, factors other than genomic faults in exon 11 and exon 17 of c-kit may be responsible for the pathogenesis.  相似文献   

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Temporary tattooing with black henna is becoming increasingly popular among children and young adults. Complications are seen depending on additives added to henna for different purposes. Two sisters, aged 8 and 11, had a temporary tattoo. The tattoos began to disappear after 2 weeks. At the end of a month, pigmentation completely disappeared and hypertrichosis was observed on the site of the tattoo figures. There were no dermatitis findings in both cases. It was observed that hypertrichosis resolved spontaneously in two months. We think that it is meaningful to see the same effect by the same factor in two children with similar genetic background. In addition, knowing this benign complication related to temporary tattooing will prevent unnecessary invasive diagnostic and therapeutic interventions.  相似文献   

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报告1例以红斑结节伴多毛为主要表现的丛状血管瘤.患儿女,8岁.左上肢结节伴多毛和疼痛2年.皮肤科检查可见左前臂数个直径0.5~2 cm的暗褐色结节,部分结节萎缩.组织病理检查示真皮内散在毛细血管组成的团块,呈丛状或卵圆形,可见圆形或不规则形的管腔,含有较多的内皮细胞和周皮细胞,细胞无异形性.免疫组化染色结果示内皮细胞CD34、CD31阳性,周皮细胞平滑肌肌动蛋白(SMA)表达阳性.  相似文献   

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Fibrous hamartoma of infancy is a rare benign tumor, which usually occurs within the first year of life. Most cases present as a solitary, painless, skin-colored subcutaneous nodule; multiple lesions are rarely reported. There have also been a few cases which have showed overlying skin changes, including hypertrichosis and alterations in pigmentation. We report a rare case of fibrous hamartoma of infancy in a 6-month-old female who presented as multiple nodules with overlying hypertrichosis on the left buttock. To the best of our knowledge, there have been only two reported cases in the dermatological published work that showed these unusual findings simultaneously.  相似文献   

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Hypomelanosis of Ito and naevoid hypertrichosis are both uncommon disorders and their coexistence in the same patient is rarely described. Most previously reported patients, in addition to cutaneous lesions, had multiple neurological, musculoskeletal and other organ system involvements. We present the case of a 3‐year‐old girl with these two naevoid disorders at sites completely exclusive of each other and without any severe associated defects.  相似文献   

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Juvenile xanthogranuloma is usually a benign condition mainly seen in infants and children. It frequently presents as asymptomatic discrete papules on the head, trunk, and limbs. Extracutaneous manifestations, most commonly ocular, are rare but may be associated with significant morbidity. The etiology of juvenile xanthogranuloma is uncertain, although the occurrence in monozygotic twins may suggest genetic predisposition.  相似文献   

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Pigmented neurofibroma (PNF) is a rare cutaneous tumor that has been observed in patients with or without neurofibromatosis (NF). This tumor is histologically characterized by the coexistence of scattered melanin-laden cells and benign spindle cells with neural differentiations. Hypertrichosis is the excessive growth of hair on non-androgen-dependent areas of the body. It has been reported that hypertrichosis may sometimes overlie a neurofibroma. We highlight a case of PNF with hypertrichosis on a 17-year-old woman with no associated NF. We also discuss the possible underlying pathogenic mechanism of a localized hypertrichosis in PNF patients.  相似文献   

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One underreported, rare side effect of laser hair removal is paradoxical hypertrichosis. It is largely unknown what the long-term outcomes are of patients who develop this complication. We report a 21-year-old, Fitzpatrick II, male patient, who had patchy areas of dark hair affecting various body areas. An Alexandrite 755 nm laser was used to address the desired areas at energies between 20 and 22 J/cm2 at 10–12-week intervals over a course of seven treatments. After three treatments, the patient noted a significant increase in the density and length of hairs involving the back, shoulders, neck, and upper arms. The patient was followed on a biannual basis, without further epilatory intervention. After 10 years, the areas of paradoxical hair growth were sparser compared to immediate post-treatment but remained denser compared to pre-treatment. This case illustrates improvement in the condition over time without intervention. Further studies are needed to determine the etiopathogenesis of this phenomenon.  相似文献   

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Chondrodermatitis nodularis chronica helicis (CNCH) is a benign inflammatory nodule of the helix. Patients report severe tenderness upon pressure. Commonly seen in middle-aged men, there are no reports of this disease in twins. We report middle-aged male monozygotic twins who simultaneously developed CNCH. This suggests, but does not prove, the possibility of a hereditary factor in the pathogenesis of CNCH.  相似文献   

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We report monozygotic twins with congenital self-healing reticulohistiocytosis, whose lesions initially presented as hemorrhagic bullae at birth with rapid progression into crusted papules the following day. Physical examination disclosed crusted papules on the right side of the neck of twin 1 and a similar solitary lesion on the lateral side of the right thumb of twin 2. Excisional biopsy specimen findings of the neck and thumb lesions were consistent with Langerhans cell histiocytosis, which was further confirmed by positive CD1a staining. The lesions resolved completely by 2 months with no evidence of recurrence or systemic involvement. Congenital self-healing reticulohistiocytosis is a rare, self-limited form of Langerhans cell histiocytosis. Although familial clustering in Langerhans cell histiocytosis was previously reported, to the best of our knowledge there is no report suggesting familial clustering in congenital self-healing reticulohistiocytosis. Our patients are interesting in terms of raising the question of whether the presence of congenital self-healing reticulohistiocytosis in monozygotic twins is implicative of a genetic role in its pathogenesis.  相似文献   

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I report a 78-year-old female patient with multiple erosive and erythematous inflammatory lesions of the vulva of seven months duration. She was diagnosed as bullous pemphigoid based on the following findings: subepidermal blister in the histological examination, linear deposition of IgG and C3 at the basement membrane zone on direct immunofluorescence studies, and positive IgG deposition on the epidermal side of saline-split normal skin on the indirect immunofluorescence study.  相似文献   

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Localized linear scleroderma with cutaneous calcinosis   总被引:3,自引:0,他引:3  
A 38-year-old woman developed sclerotic and atrophic changes of the left femur in the winter of 1976. In 1980, she was referred to our dermatology clinic and was diagnosed with localized linear scleroderma from the results of the physical examinations and the histological findings. Although several local and systemic treatments were employed over the following 10 years, the sclerotic lesion did not show any remarkable improvement. In 1991, several hard and white papules appeared in the lesion, and a biopsy specimen of these white papules revealed calcinosis.  相似文献   

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Abstract:  Juvenile xanthogranuloma, a histiocyte disorder, usually presents with a solitary cutaneous lesion. Juvenile xanthogranuloma with extracutaneous involvement is a rare disease in which significant morbidity and occasional deaths may occur. Monozygotic twins with congenital systemic juvenile xanthogranuloma who presented with multiple skin lesions, hepatosplenomegaly, liver failure, and bone marrow involvement were reported. The diagnosis of systemic juvenile xanthogranuloma was confirmed by histology and immunohistochemical stains of the skin with liver biopsies revealing dense infiltration of lymphohistiocytes with typical Touton giant cells staining positive for CD68 and negative for CD1a and S-100 protein. Both of them received systemic prednisolone 1 mg/kg/day which was gradually tapered off with time according to clinical and investigative responses. At the 17-month follow-up period, both patients showed remarkable regression in all symptoms and laboratory studies.  相似文献   

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