结节性硬化症98例临床表现对诊断的意义

目的分析结节性硬化症(TS)的临床表现,着重分析其误诊原因,以期减少临床漏诊误诊。方法对98例TS患者的临床资料进行了分析,包括详细的病史询问、皮肤科检查、头颅CT和MRI、腹部B超、胸部X线及眼科检查。结果结节性硬化症的面部血管纤维瘤、前额纤维斑块易误诊为各种皮肤病。色素减退斑易误诊为白癜风。有癫痫、腰骶部鲨革样皮疹、脑肿瘤或肾脏肿瘤者因忽略TS其他表现易漏诊。结论识别结节性硬化症特征性的皮肤表现有助于早期正确诊断。对在出生时数目超过3个或者同时伴有癫痫的色素减退斑应想到TS可能。对于腰骶部结缔组织痣或侧脑室室管膜下巨细胞星形细胞瘤或肾脏血管平滑肌脂肪瘤的患者诊断时应注意有无TS其他表现。     

遗传性皮肤病

20050919 结节性硬化症67例临床分析/孙新芬(复旦大学华山医院皮肤科),闫春林,方丽…//临床皮肤科杂志.-2005,34(2).-78-81 回顾性分析67例结节性硬化症(TS)患者的临床、实验室及辅助检查资料。结果常受累的器官为皮肤、脑及肾脏,神经系统损害多见,头颅CT检查阳性率达94.3%,皮肤损害最常见和最早出现的表现是色素减退斑,有81.5%的患者色素减退斑数目>3个,其次常见     

结节性硬化症11例临床分析

目的熟悉结节性硬化症（tuberous sclerosis,TS）的特征性皮肤表现和皮肤以外的临床表现,使皮肤科医生能早期正确诊断TS。方法回顾性分析11例TS患者的临床资料和辅助检查,并复习相关文献。结果 11例TS患者的皮肤表现有面部血管纤维瘤（7/11）、腰骶部鲨革样斑（5/11）、色素脱色斑（4/11）、多发性甲周纤维瘤（1/11）和前额纤维斑块（1/11）。TS患者可出现癫痫（6/11）、智力障碍（3/11）、肾血管平滑肌脂肪瘤（2/11）、多发性肾囊肿（1/11）等皮肤外系统损害。结论皮肤科医生应重视TS患者的典型皮损以及皮肤外的症状和体征,掌握TS的诊断标准。TS的临床表现随年龄增长而相继出现,疑似病例需经长期的临床随访才能确诊。     

结节性硬化症临床研究

结节性硬化症是以错构瘤为主要表现的累及多个系统和器官的常染色体显性遗传性疾病。临床表现多样,最常累及的是皮肤、神经系统和肾脏,表现为色素减退斑、面部血管纤维瘤、鲨革样斑、癫痫、智力障碍、肾血管肌脂肪瘤、多囊肾等,严重者可出现肾功能衰竭、呼吸衰竭、心律失常、大出血等导致死亡。目前结节性硬化症仍主要根据其临床表现来诊断。     

结节性硬化症临床研究

结节性硬化症是以错构瘤为主要表现的累及多个系统和器官的常染色体显性遗传性疾病。临床表现多样，最常累及的是皮肤、神经系统和肾脏，表现为色素减退斑、面部血管纤维瘤、鲨革样斑、癫痫、智力障碍、肾血管肌脂肪瘤、多囊肾等，严重者可出现肾功能衰竭、呼吸衰竭、心律失常、大出血等导致死亡。目前结节性硬化症仍主要根据其临床表现来诊断。     

结节性硬化症1例

患者男,32岁,因色素减退斑、面部丘疹31年,甲周丘疹2年就诊。患者出生时躯干、四肢多发叶状色素减退斑。1岁时面中部出现丘疹并逐渐增多,无自觉症状。面部丘疹曾于外院行组织病理检查,符合"面部血管纤维瘤"。2年前甲周出现丘疹,伴轻度压痛。患者母亲面部有类似皮疹,有癫痫发作史。     

结节性硬化症20例分析

为了熟悉结节性硬化症的特征性皮肤表现和常见的皮肤以外病变，早期正确诊断本病并及早发现重要内脏器官的病变，对２０例结节性硬化症患者进行了体检、头颅ＣＴ、腹部Ｂ超、胸部Ｘ线、手足Ｘ线及眼科检查。结果发现结节性硬化症常累及皮肤、脑、肾等器官，色素减退斑是最常见、最早的皮肤表现，易误诊；头颅ＣＴ检查对本病的诊断有很大的价值。建议临床医师应对色素减退斑尤其伴有癫痫的患者提高警惕，并注意结节性硬化症患者内脏病变的检查和随访     

遗传性泛发性色素异常症7例及家系调查

报告1例遗传性泛发性皮肤色素异常症及家系调查.患者男,18岁.因全身皮肤色素沉着伴色素减退18年就诊.头面部、躯干、四肢和手足背面弥漫性密集分布褐色色素沉着斑,其间夹杂大量色素脱失斑,牙龈和足跖部少量褐色色素沉着斑.色素沉着处组织病理检查示基底层色素增加,黑素细胞数目正常;色素减退处组织病理检查示基底层色素减少,黑素细胞数目亦正常.     

肾脏疾病的皮肤表现

正皮肤的异常表现常常成为系统性疾病重要的诊断线索,而肾脏疾病在皮肤的表现较为常见且更为复杂。1肾脏疾病皮肤表现的一般情况肾脏疾病在皮肤表现主要有两大类:伴有肾脏受累的遗传相关性综合征和获得性肾病。伴有严重肾脏表现的遗传性综合征如结节性硬化症,可有血管纤维瘤、鲨革斑等皮肤病变,同时可能出现多囊肾、肾错构瘤等;Fabry病导致肾衰,可合并弥漫性血管角皮瘤;还有甲-髌骨综合征、Beckwith-     

遗传性对称性色素异常症1例并家系调查

报道1例遗传性对称性色素异常症。患者,男,12岁。手足背及四肢近端伸侧色素异常性皮疹11年。表现为手足背及四肢近端伸侧点状色素增加斑、色素减退斑与正常皮肤相间,呈网状外观;面部有雀斑样皮损。家系调查示13人中7人患病。诊断为遗传性对称性色素异常症。     

Facial angiofibromas in a mosaic pattern tuberous sclerosis: A case report

Tuberous sclerosis is a rare genetic disorder presenting clinically with multiple hamartomas in different organs including the skin. The cutaneous manifestations include facial angiofibromas, hypopigmented macules (ash leaves), connective tissue nevi (shagreen patches), and periungual fibromas (Koenen tumors). We present a case of facial angiofibromas in a mosaic pattern tuberous sclerosis in an 11-year-old boy.     

Discordant expression of tuberous sclerosis in monozygotic twins

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.     

Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.     

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas. Methods The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month–18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study. Results Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), “café-au-lait” macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and “confetti-like” macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were cafe-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. Conclusions Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.     

Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.     

Do you know this syndrome?

The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications.