A unique case of cutaneous calcinosis with transepidermal elimination.

A case of cutaneous calcinosis with unique clinical and histological features which occurred on the cheek of a 14-year-old girl, is reported. Our case had no abnormal findings in laboratory data. Serum calcium and phosphate were normal, there was no underlying disease, and the possibility of self-inflicted dermatoses was denied. Transmission electron microscopy and X-ray microanalysis showed calcium and phosphate deposited around collagen fibers, which were eliminated from the epidermis.     

Plaque-like osteoma cutis with transepidermal elimination

Osteoma cutis is a rare lesion that consists of the presence of bone tissue within the dermis and/or hypodermis. It may be classified as primary osteoma cutis, when bone tissue develops in the skin without any pre-existing lesion and secondary osteoma cutis, which is more frequent and occurs when osseous tissue develops on a pre-existing lesion. We present a case of primary plaque-like osteoma cutis involving the scalp, left forehead and left cheek, which appeared in an adult male. Histopathological study showed several islands of mature osseous tissue involving the full thickness of the dermis. In some areas, there was also transepidermal elimination of bone spicules. We review the literature about previously reported similar cases.     

A dystrophic calcinosis cutis case treated with CO2 laser

Abstract

Calcinosis cutis is the deposition of insoluble calcium salts within cutaneous tissue. It may be divided into four major subtypes: dystrophic, metastatic, idiopathic, and iatrogenic. The most common subtype is dystrophic calcinosis cutis. It can occur as a result of local tissue injury. We herein present a child with dystrophic calcinosis cutis developed following trauma and successfully treated with CO₂ laser.     

Development of a model for transepidermal elimination

Transepidermal elimination is a phenomenon which occurs spontaneously in certain skin disorders in which effete connective tissue or foreign materials is expelled via the epidermis to the exterior. In order to learn how this phenomenon is effected and what factors control it, we have attempted to produce an animal model for the process. When charcoal particles are deposited subepidermally in guinea-pig flank skin transepidermal elimination occurs within 4 days and we believe that this mimics the disorder seen in man. The hair follicles became hyperplastic and were intimately involved in the reaction, some of the particles actually being expelled via the follicular lumina. The reaction has some similarities to the wound healing response.     

Cutaneous calcinosis with transepithelial elimination in a patient with sarcoidosis

A 44-year-old man who had worked as a plumber and was currently working as a bricklayer was referred to our hospital because of a 2-year history of progressive dyspnea. Physical examination revealed cyanosis, clubbing of the fingers, and edema of the inferior extremities. Chest auscultation revealed bilateral inspiratory crackles predominantly at the lung bases. Remarkably, there were several painful, firm papules and nodular lesions over the fingertips of the hands, some with whitish crusts (Fig. 1). These lesions had appeared 2 years before and gradually increased in number and size. A full blood count was normal apart from moderate erythrocytosis and lymphopenia. The biochemical profile (including serum levels of calcium and phosphorus and daily urinary calcium excretion) was normal. Serum angiotensin converting enzyme activity was increased at 60 U/mL (normal range, 6.1–21.1 U/mL). An antinuclear antibody test was negative. Serum complement levels were normal. Chest X-ray film showed cardiomegaly, bilateral hilar lymphadenopathy, and interstitial infiltrates (reticulo-nodular pattern) with a predilection for the mid and lower lung zones. A computed tomography scan of the chest confirmed mediastinal adenopathy and revealed bilateral and diffuse parenchymal abnormalities consisting of nodular opacities along the bronchovascular bundles and interlobular septa, irregular linear opacities oriented along the bronchovascular bundles, and distortion of the lobules. A gallium-67 scan showed a “lambda” pattern created by uniform uptake in bilateral intrathoracic and right paratracheal lymphadenopathy, which is highly specific for the diagnosis of sarcoidosis.¹ The recovery of bronchoalveolar lavage [TAB1][TAB]showed 61% macrophages (normal range, 80%–90%) and 35% lymphocytes (normal value, <10%). The CD4/CD8 lymphocyte ratio was increased at 3.6. Smears and cultures of the bronchial washings failed to demonstrate any infectious organisms. Cytologic examination of three sputum samples gave negative results for malignant cells, as well as for hyphae and acid-fast bacilli. A biopsy specimen of a papular lesion of the fingertips revealed acanthosis and orthokeratotic hyperkeratosis in the epidermis. Remarkably, there were deposits of a basophilic and von Kossa-positive material in the upper and mid dermis (Fig. 2). In some areas, there were calcific deposits perforating into the epidermis, in the manner of transepithelial elimination.² The patient was diagnosed as having cutaneous calcinosis with transepithelial elimination associated with pulmonary sarcoidosis. Progressive pulmonary fibrosis developed despite treatment with high-dose oral glucocorticoids. The patient died 10 months after the initiation of treatment due to severe pulmonary hypertension and right heart failure. During this period, no new cutaneous lesions appeared on the fingertips and there was a reduction in size with symptomatic improvement in some of them.     

Two cases of dystrophic calcinosis cutis in burn scars

Dystrophic calcinosis cutis is defined as the abnormal deposition of insoluble calcium salts in dead or degenerated cutaneous tissues in the absence of abnormal serum calcium or phosphate concentrations. Although dystrophic calcification can occur in various diseases, its occurrence on a burn scar has rarely been reported in the dermatologic literature. Herein we describe two patients who presented with a solitary non-healing ulcer in a postburn scar, with histopathologic evidence of calcium deposition in the dermis.     

Porokeratosis plantaris discreta. A case showing transepidermal elimination

A 16-year old girl developed multiple, well-demarcated, extremely painful, hyperkeratotic nodules on her left sole. Histologic examination revealed a cornoid lamella and transepidermal elimination of blood vessels and collagen fibers which may be caused by the acceleration of keratinization. The pain and tenderness may have been partially related to epidermal disruption.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.     

成功实施一例去除母体细胞污染的大疱性表皮松解症的产前诊断

目的 对一例已生育过Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症患儿且突变位点明确的孕妇进行DNA为基础的产前诊断,并探索诊断过程中母体细胞污染的排除方法.方法 于孕16周行羊膜腔穿刺术,抽提羊水细胞中胎儿基因组DNA.PCR扩增、DNA直接测序法明确胎儿是否带有致病突变.羊水细胞贴壁培养技术将羊水中胎儿细胞与母体血细胞分离,去除母体细胞污染.核型分析法以期证实羊水中有父源性信息.微卫星标记连锁分析技术进一步证实胎儿基因型.结果 B 超下示胎盘位于腹前壁,故穿刺针无法避开胎盘,须经腹壁、胎盘后入羊膜腔抽取羊水,离心后示羊水细胞中有肉眼可见血细胞污染.直接测序显示,孕妇已生育的女儿(7岁,已确诊为Hallopeau-Siemens型隐性营养不良型大疱性表皮松解症)12号外显子上有母源性突变R525X,105号外显子上有父源性突变R2610X,胎儿12号外显子上存在和母亲相同的突变R525X,105号外显子正常.为排除该结果为穿刺过程中母亲血细胞污染羊水所致,将羊水细胞贴壁培养后,再次进行直接测序及家族单倍型连锁分析,显示两次直接测序和连锁分析结果一致,排除母体污染,证实胎儿为带有与母亲相同突变的临床表型正常的携带者.孕妇于孕40周产下一表型正常女婴.结论 用直接测序、羊水细胞贴壁培养、核型分析、连锁分析等多种技术联合,可提高产前诊断准确性.