Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies

ABSTRACT

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.     

Biological therapy of autoimmune blistering diseases

Introduction: Autoimmune blistering skin diseases are a group of disorders subdivided according to the location of blister formation: intraepidermal blistering in the pemphigus group and subepidermal in the pemphigoid group. These conditions are clinically heterogeneous and are treated with systemic corticosteroids and/or other forms of immunosuppression on the basis of clinical subtype and disease severity. These approaches may not be effective for the induction and maintenance of clinical response or need to be stopped because of intolerable side effects.

Areas covered: Biological therapies can represent a valid alternative strategy in various autoimmune blistering disorders and this review article will address this issue with a special focus on pemphigus vulgaris and bullous pemphigoid. These biological approaches are designed to target B cells, autoantibodies, complement proteins, and several cytokines.

Expert opinion: Innovative strategies for the treatment of autoimmune blistering conditions primarily depend on the use of drugs with a high degree of specificity targeting crucial steps in the immunopathology of these disorders. Novel biological agents offer treatment alternatives to patients with autoimmune blistering conditions by targeting B cells, pathogenic autoantibodies, complement and cytokines.     

Selective plasma exchange can reduce auto‐antibodies in patients with bullous pemphigoid without affecting factor XIII and fibrinogen

Bullous pemphigoid (BP) is an autoimmune blistering skin disorder characterized by circulating serum IgG antibodies against two hemidesmosomal proteins: BP180 and BP230. Fundamentally, immunosuppressive therapies are administered to treat this disease, but plasmapheresis can be added for refractory patients. We experienced the case of a 63‐year‐old patient with refractory BP for which we administered double filtration plasmapheresis (DFPP). His skin lesions improved along with decreased IgG BP180 antibodies, but factor XIII (FXIII) and fibrinogen were also reduced by DFPP repetition. Reportedly, deficiency of those factors can cause lethal bleeding. Especially, decreased FXIII cannot be detected by prolongation of bleeding or coagulation time. To prevent further reduction of those factors and bleeding complications, DFPP was switched to selective plasma exchange (SePE), a new modality of plasmapheresis that uses a membrane plasma separator with smaller than ordinary pores. SePE further reduced pathogenic IgG BP180 antibodies, but FXIII and fibrinogen recovered. For this case, we measured the mean of reduction ratios in serum IgG and FXIII both before and after plasmapheresis sessions and detected the decreased levels of FXIII and fibrinogen during DFPP. We were able to switch to SePE from DFPP appropriately before any bleeding event occurred. The utility of SePE was demonstrated, especially for the reduction of pathogenic antibodies with retention of FXIII and fibrinogen, which have the longest half‐lives among coagulation factors and which take a long time to recover.     

“中药偏方”引起大疱性表皮松解型药疹案例分析

1例男性17a患者,因急进性肾炎伴肾功能不全（失代偿期）自服“中药偏方”汤剂,3d后出现全身弥漫性皮疹,伴瘙痒,6d后入院检查：体温升高至39．0℃,部分皮肤表皮松懈伴有水疱,结膜充血、糜烂,口唇糜烂,八院后给予抗感染、激素冲击疗法、抗过敏、纠正电解质紊乱、基础疾病治疗、营养支持疗法、创面处理等对症治疗。14d全身皮肤出现较多的大小水疤及皮肤破渍,18d全身水疱融合成片,皮肤破溃、部分皮肤脱落,伴少量渗血,21d足部、背部大面积皮肤破溃、脱落,腿部皮肤多处撕裂,伴有较多渗血,阴囊皮肤破溃、脱落、渗血,24d血氧饱和度持续下降,家属拒绝抢救,出院后5h患者死亡。     

Dermatologic causes of vaginitis: a clinical review

The concept of vaginitis is widely accepted. Most physicians assume that vaginitis represents an infection, with nearly all vaginal complaints diagnosed as Candidiasis, bacterial vaginosis, or trichomonas. However, like the mouth, the vagina is covered with squamous epithelium, and therefore affected by various dermatoses. Some dermatoses prominently affect mucous membranes, such as lichen planus, pemphigus vulgaris, cicatricial pemphigoid, and blistering forms of erythema multiforme. In addition, some dermatoses affect only the vagina, including desquamative inflammatory vaginitis and atrophic vaginitis. The diagnosis and management of these diseases are hampered by the difficulty of visualizing the vagina, and the lack of medications other than antimicrobials available for use in the vagina.     

大疱性类天疱疮患者发生静脉血栓6例临床分析

目的探讨大疱性类天疱疮患者发生静脉血栓的临床特点。方法回顾性分析6例大疱性类天疱疮患者发生静脉血栓的临床资料。结果 6例大疱性类天疱疮静脉血栓患者年龄为46至74岁,上肢静脉血栓4例,下肢静脉血栓2例,表现为单侧肢体肿胀疼痛,嗜酸细胞比值>5%,血小板计数>300×109,D-D二聚体阳性。结论大疱性类天疱疮患者可发生静脉血栓,多见于中老年患者,病因尚须进一步探讨。     

656例自身免疫性大疱病住院患者皮肤感染的危险因素及病原学分析

目的: 总结自身免疫性大疱病住院患者皮肤感染的相关因素、病原体以及药物敏感特征.方法: 收集2013-2019年自身免疫性大疱病住院患者的临床资料,并对其感染相关因素以及皮肤感染病原体、药物敏感试验进行回顾性分析.结果: 共656例自身免疫性大疱病住院患者纳入分析,皮肤感染率为74.29％,住院时长≥14天与<14天患...     

Myringitis: An update

Myringitis can be acute or chronic. Though they commonly present with ear discharge with or without pain, the etiology and the management principles differ. Granular myringitis generally is an external ear pathology extending to tympanic membrane and present as painless otorrhea, whereas the bullous myringitis is commonly associated with acute inflammation of middle ear cleft and present with severe ear pain. This literature review discusses the clinical as well as the therapeutic aspects of these inflammatory conditions.