A case of porphyria cutanea tarda in association with idiopathic myelofibrosis and CREST syndrome

We report a 56-year-old Korean woman with porphyria cutanea tarda (PCT), showing multiple scarring bullae and hypertrichosis on sun-exposed areas of skin with postinflammatory hyperpigmentation. Sclerodermoid changes were also found on both hands, the face and neck. The patient had suffered from CREST syndrome, manifesting with Raynaud's phenomenon and sclerodactyly, for more than 15 years. Anticentromere antibody was positive. She had presented with splenomegaly 3 years before the development of PCT, and was diagnosed as having idiopathic myelofibrosis, based on bone marrow biopsy. In summary, she had had CREST syndrome for 15 years and later developed idiopathic myelofibrosis and PCT. This is the first reported case of PCT in association with idiopathic myelofibrosis and CREST syndrome.     

The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. CREST syndrome

The distribution and clinical appearance of the telangiectasia in the CREST syndrome (calcinosis, Raynaud's phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) and hereditary haemorrhagic telangiectasia (HHT) are very similar. Several previously reported cases of the CREST syndrome simulating HHT illustrate this diagnostic quandary. We report a patient who met the diagnostic criteria for both the CREST syndrome and HHT, and discuss the distinguishing features of the two diseases, including the distinctive histopathological findings of telangiectasia in HHT.     

Prominent Telangiectasia Associated with Marked Bleeding in CREST Syndrome

A 64-year-old woman with CREST syndrome developed prominent telangiectases mimicking hereditary hemorrhagic telangiectasia (HHT) of Osler-Rendu-Weber. We have been following her since she first came to us with discrete telangiectatic mats and Raynaud's phenomenon 11 years ago. Telangiectatic lesions have been seen on her larynx and esophagus in addition to commonly affected sites. She has experienced spontaneous epistaxis and marked bleeding from the lesions on her lips, oral mucous membrane, and soles. This case illuminates new aspects of telangiectasia in CREST syndrome.     

Clinical and immunological characterization of patients with systemic sclerosis overlapping primary biliary cirrhosis: a comparison with patients with systemic sclerosis alone

Limited cutaneous systemic sclerosis (ISSc) or CREST syndrome is sometimes complicated by primary biliary cirrhosis (PBC). To characterize the clinical and immunological features of patients with SSc overlapping PBC (SSc-PBC), the clinical and laboratory data of 11 SSc-PBC were studied. Since all of the SSc-PBC were ISSc, the features of SScP-BC were compared with those of 266 patients with ISSc alone. The sera from SSc-PBC showed a significantly higher positivity for anti-centromere antibody (ACA) (p<0.0005) and higher reactivity to centromere protein-C. Although SSc-PBC more frequently exhibited calcinosis and telangiectasia (p<0.05), there was no statistical difference in other features of CREST syndrome. There was no statistical difference in other scleroderma-related features either. SSc-PBC were more frequently complicated with Sjögren syndrome (p<0.05). The most prominent feature of SSc-PBC was a higher incidence of ACA than in ISSc alone.     

Studies of the microvascular endothelium in uninvolved skin of patients with systemic sclerosis: direct evidence for a generalized microangiopathy

Various parameters for assessing endothelial cell (EC) metabolism, including immunohistochemistry and adenosine uptake, have been compared in the clinically uninvolved skin of patients with diffuse systemic sclerosis (DSS), CREST, incomplete CREST syndrome (ICREST), primary Raynaud's disease (1 degree RD) and normal controls. Evidence of platelet adhesion to EC, decreased EC storage of factor VII-related antigen, changes in EC morphology and decreased adenosine uptake by EC, were found in the dermal microvasculature of normal skin of patients with DSS, CREST and ICREST, but not in 1 degree RD. These data indicate that a generalized microvascular endothelial dysfunction is present in the skin of patients with the systemic forms of scleroderma.     

嗜酸性粒细胞增多综合征1例

患者女,53岁。反复咳嗽、咳痰1年,全身起疹伴瘙痒2个月入院。入院检查外周血和骨髓嗜酸性粒细胞明显增多,组织病理改变符合嗜酸性粒细胞改变。诊断:嗜酸性粒细胞增多综合征。给予糖皮质激素、抗感染和支持对症等治疗14d后出院。现随访中。     

Syndrome in question

Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.     

血燥证理论在皮肤科中的应用

血燥泛指人体中津液、血液之干燥、枯涩。血燥证是气血津液辨证《新血证论》中与血热、血虚、血瘀证等同一范畴独立的证。其具有津液、血液功能之紊乱,亦有津液、血液物质基础之改变。其病因以"邪"、"虚"、"瘀"为主。邪有"风"、"热"、"毒"三者,虚有"阴虚"、"血虚"致病。血燥证的辨证论治有其特定的理法方药。血燥证的诊断指征主要根据临床皮肤黏膜、毛发爪甲之燥,以及五脏六腑之燥,实验室有皮肤屏障功能及血液物化特征之异常。血燥证常见于银屑病、干燥综合征、特应性皮炎和鱼鳞病和光感性皮炎等多种皮肤病。血燥证的本质实验研究提示,血燥证患者具有皮肤屏障功能异常、血液流变学物化特征紊乱、体液代谢失调和免疫功能紊乱。中药药物之研究,具有润燥功能的生地黄、山药、益母草、桔梗、首乌、白芨、甘草等均有促进皮肤神经酰胺生成的作用。前述血燥证指标异常的患者经调血、润燥法外用或内服治疗后均获得明显改善,说明血燥证的本质与体液代谢和免疫功能异常相关,调血润燥有改善血燥证上述异常的作用。     

Proteus综合征

Proteus综合征是一种散发且表现复杂的罕见疾病,病因不明。特征为多种组织非对称性、不规则的过度生长,脑回状结缔组织痣、表皮痣、血管畸形及脂肪组织异常。可出现严重的并发症,如肺栓塞、肺囊肿及各种肿瘤。因临床表现差异大,容易误诊,故着重强调了其各种临床表现特征和最新诊断标准。至今,本病尚无特效疗法。     

Syndrome in question

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.     

Menkes''s Syndrome

Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes's syndrome may be a storage disease in which copper is irreversibly trapped in some tissues by metallothionein, a heavy-metal-binding protein. This then gives rise to a deficiency elsewhere, particularly in the brain, causing irreversible damage in the fetus. We present a patient with Menkes's syndrome and review the clinical and metabolic aspects of this disease.     

Anticentromere antibodies (ACA): clinical distribution and disease specificity

Sera from 3528 patients with autoimmune disease, and non-autoimmune disease, and 500 normal individuals were studied For the presence of anticentromere antibodies (ACA) by indirect immunofluorescence on HEP-2 cells. Sixty-seven specimens were identified showing discrete speckled staining: 55 (82.1%), 11 (16.4%), and one (1.5%), were from patients with autoimmune disease, non-autoimmune disease and normal control subjects, respectively. These ACA were present frequently in CREST syndrome (55%), Raynaud's disease (29.6%) and primary biliary cirrhosis (30%). Only 16.4% of the antibody positive patients carried a clinical diagnosis of CREST, which means that ACA are not specific for CREST syndrome. High antibody titre persisted irrespective of whether or not the patients had active disease. The ACA were present infrequently in Sjögren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, immune thrombocytopenic purpura, Graves' disease, immune haemolytic anaemia, and vitiligo. Sera from 107 patients with various other autoimmune diseases were negative for ACA.     

Wells' Syndrome Associated with Churg-Strauss Syndrome

Churg-Strauss syndrome (CSS) is a multisystem granulomatous vasculitis that is characterized by peripheral eosinophilia and the infiltration of eosinophils into systemic organs. The skin lesions of CSS consist mainly of palpable purpura and nodules. Wells'' syndrome (WS) is a rare inflammatory dermatosis that is associated with recurrent granulomatous dermatitis and eosinophilia. Since these two diseases are rare, any overlap between them is very unusual. Herein, we report a patient with CSS, who initially presented a skin eruption of erythematous urticarial-plaques, vesicles, and blisters. Upon biopsy, the histology of these plaques indicated eosinophilic infiltration and "flame figures" within the dermis, which was consistent with a diagnosis of WS. Although the association between WS and CSS that was observed in our patient may be purely coincidental, it could also suggest a common pathogenetic background of these two distinct diseases, as both share several many common features.     

Familial lichen sclerosus et atrophicus in association with CREST syndrome: a case report

Lichen sclerosus et atrophicus is an uncommon disease which appears to be multifaetorial in aetiology. We describe a case of a young woman with CREST syndrome (calcinosis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasial who has a documented family history of two sisters with lichen sclerosus et atrophicus. She presented with vulvar pruritas in association with dyspareunia. and biopsy of atrophic white vulvar lesions was consistent with lichen sclerosus et atrophicus. Lichen sclerosus et atrophicus has been previously noted to occur in association with morphoea and lichen planus, although it has never been reported in conjunction with CREST syndrome.     

孢子丝菌病样皮肤淋巴管综合征

孢子丝菌病样皮肤淋巴管综合征因临床上易误诊为皮肤淋巴管型孢子丝菌病导致治疗失败而引人关注。该综合征可由某些真菌、细菌、分枝杆菌、寄生虫等病原体经皮肤直接外伤种植引起。特征性表现为向心性淋巴管引流区域分布的皮下结节和/或淋巴管炎。寻找相关的流行病学因素及合适的实验室检查确定病原体是确诊的关键。根据分离的病原体及相应的药敏试验结果确定最佳治疗方案。     

Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patient''s epilepsy episodes from his first year of life had been ignored and separated from the entity of SWS by his physicians, which led to delayed treatment. This case illustrates the importance of careful examination of patients of any age with hemangiomas in the trigeminal nerve with concomitant episodes of epilepsy. In such cases, there should be yearly neuroimaging screenings to guaranteed early interdisciplinary interventions from the time of definite diagnosis.     

Well’s综合征1例

报告1例Well's综合征。患者女,31岁。四肢反复出现皮疹,伴瘙痒、疼痛1年余,加重1月。组织病理示:真皮内大量嗜酸性细胞浸润,并可见火焰现象。诊断为嗜酸性蜂窝织炎(Well's综合征)。     

Multiple Epidermal Cysts in Lowe Syndrome

Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characteristic of Lowe syndrome, but skin lesions have rarely been described. Recently, mechanisms for the association of Lowe syndrome and skin lesions have been proposed. We report this case of Lowe syndrome involving multiple epidermal cysts on the scalp in a 6-year-old male child.     

药物超敏反应综合征发病机制及治疗的研究进展

药物超敏反应综合征是一种具有特异征候的重症药疹。目前认为,在一定的遗传背景下,机体对药物活性代谢产物解毒功能的缺陷是其病因之一,人疱疹病毒-6感染再激活也参与了此病的发生。药物及病毒再激活引发的免疫过敏反应所致组织损害主要南CD8 细胞毒性T淋巴细胞造成。针对其病理生理改变,最有效的治疗是采用激素与免疫球蛋白联合疗法。     

Primary localized cutaneous nodular amyloidosis successfully treated with cyclophosphamide

Primary localized cutaneous nodular amyloidosis (PLCNA) is a rare subtype of localized cutaneous amyloidosis and can be associated with various connective tissue disorders. It can be difficult to treat and past therapies include surgical excision, dermabrasion, electrodessication and curettage, cryotherapy and laser therapy. We present a case of a middle‐aged woman with PLCNA associated with CREST (calcinosis, Raynaud phenomenon, oesophageal motility disorders, sclerodactyly and telangiectasia) syndrome and Sjögren's syndrome responding to cyclophosphamide with no new amyloid deposits and resolution of skin ulceration after many years of resistance to drug therapy. It is important to monitor these patients for progression into systemic amyloidosis.