Oesophageal stricture in epidermolysis bullosa

Epidermolysis bullosa is a rare hereditary skin disorder¹. Oesophageal involvement in this condition is rarer still². This presentation is one such case in which the patient presented with dysphagia and characteristic skin lesions.     

Epidermolysis bullosa herpetiformis (Dowling-Meara type) exhibits ultrastructural derangement of tonofilaments and desmosomes

Ultrastructural and immunohistochemical studies of clinically intact skin obtained from three severe neonatal cases of epidermolysis bullosa herpetiformis (Dowling-Meara type) demonstrated disorders in the assembly of keratin intermediate filaments and desmosomes of the keratinocytes. During mitosis, K5- and K14-positive and K1- and K10-negative tonofilaments were disrupted and formed spherical bodies associated with intracytoplasmic desmosomes by invagination of the desmosomes and the adjacent plasma membrane. During the invagination process, destructive changes in the internalized membrane were noted. These were accompanied by gradual loss of reactivity with a monoclonal antibody ZK31, which detected plasma membrane adjacent to the attachment plaques of desmosomes. However, the reactivity of the attachment plaques of the internalized desmosomes for desmoplakins and desmoglein did not decline during the process of internalization. In the suprabasal layers of the epidermis, filamentous substructures and K1 and K10 appeared at the periphery of the spherical bodies. Simultaneously, the desmosomes that were sparsely located in the lower epidermis, increased in number as cell differentiation progressed. Thus, the keratinocytes attained an almost normal appearance with respect to tonofilaments and desmosomes by the time they reached the upper layer of the epidermis. These findings may be relevant to the mechanism responsible for the clinical appearance of the herpetiform blisters in epidermolysis bullosa herpetiformis, which are also characterized by spontaneous involution during childhood or when exposed to high ambient temperatures.Part of this work was presented at the annual meeting of the Japanese Society for Ultrastructural Cutaneous Biology, 12 May 1990, Tokushima, Japan, at the joint meeting of the Society for Cutaneous Ultrastructure Research and the Japanese Society for Ultrastructural Cutaneous Biology, 23–25 May 1991, Vienna, Austria, and at the sixth Conference on Disorders of Keratinization, 6 July 1991, Tokyo, Japan     

Empfehlungen für die Anwendung der Immunapherese bei der Therapie bullöser Autoimmundermatosen

The etiology of epidermolysis bullosa acquisita (EBA) is unknown. EBA may be associated with other autoim‐mune systemic diseases; it also has been described in connection with different malignant tumors, showing complete remission after successful treatment of the tumor.In such cases, EBA may be regarded as a paraneo‐plastic dermatosis. We detected a highly differentiated neuroendocrine pancreatic cancer in a 78‐year‐old woman with EBA. Even thought her tumor was completely removed and the patient has been disease‐free for over seven years, a complete regression of her autoimmune bullous dermatosis could not be induced. By using intravenous immunoglobulins in combination with mycophenolate mofetil, further blister formation could be ameliorated.     

The molecular basis for inherited bullous diseases

In the past 5 years enormous progress have been made in our understanding of the molecular basis for a number of inherited skin diseases characterized by easy blistering of the skin and the mucous membranes after minor physical trauma. This increased fragility of the skin or its appendages is due to molecular defects in genes coding for different intra- and extracellular structural proteins which are responsible for mechanical strength at their sites of expression. These diseases encompass the group of epidermolysis bullosa and disorders of cornification such as bullous forms of ichthyosis, palmoplantar keratoderma, and pachyonychia congenita. On the basis of clinical, morphological, and ultrastructural observations the epidermolysis bullosa group has been divided into three major categories. In epidermolysis bullosa simplex blister formation appears within the basal cell layer of the epidermis, and many mutations have been found in the genes of keratin 5 and 14 which are both expressed in basal keratinocytes. Epidermolytic hyperkeratosis leads to an epidermal separation in the suprabasal cell layers. In these patients numerous point mutations have now been described in the suprabasally expressed genes of keratin 1 and 10. In ichthyosis bullosa of Siemens blisters occur in the more upper suprabasal epidermis coincidental with the expression of keratin 2e, and mutations have been detected in the corresponding gene. In epidermolytic palmoplantar hyperkeratosis the suprabasal epidermal splitting is restricted to palms and soles of the patient. In keratin 9, which reveals such an exclusive expression pattern, molecular defects have indeed been recognized. Most recently in two different clinical subtypes of pachyonychia congenita, which is characterized by defective nails and focal palmoplantar hyperkeratosis, point mutations have been found in the genes coding for keratins 6, 16, and 17. In junctional epidermolysis bullosa the separation takes place within the dermal-epidermal basement membrane at the level of the lamina lucida, and mutations have been found in three genes coding for different laminin chains, in the ₄ gene of ₆₄ integrin, and in the gene of collagen XVII. In dystrophic epidermolysis bullosa the tissue separation occurs beneath the basement membrane within the papillary dermis at the level of the anchoring fibrils, and several mutations have been identified in the collagen VII gene. The rapid unraveling of molecular defects in these disabling or even lethal inherited skin diseases makes possible a more precise and earlier prenatal diagnosis, creates new options for suitable therapeutic regimens, and even offers the hope of curing these diseases by means of somatic cell gene therapy.Abbreviations BM Basement membrane - BPAg Bullous pemphigoid antigen - DEB Dystrophic epidermolysis bullosa - EB Epidermolysis bullosa - EBS Epidermolysis bullosa simplex - EHK Epidermolytic hyperkeratosis - EPPK Epidermolytic palmoplantar keratoderma - IBS Ichthyosis bullosa of Siemens - JEB Junctional epidermolysis bullosa - KIF Keratin intermediate filaments - NC Noncollagenous domain - NEPPK Nonepidermolytic palmoplantar keratoderma - PC Pachyonychia congenita     

Pneumatised superior turbinate: a common anatomic variation?

Summary Anatomic variations are important in preendoscopic CT evaluation of the paranasal sinuses. In this study, we investigated whether the superior turbinate could become pneumatised like the middle turbinate, pneumatisation of which is well-known. Images of 52 patients who underwent CT examination prior to endoscopic sinus surgery and who had normally aerated posterior ethmoidal cells and an unobscured nasal cavity were retrospectively evaluated. The patients were 12–68 years old (median age, 35 years); 28 were women and 24 were men. Pneumatisation of the superior turbinates was graded in two groups as minimal or marked. Pneumatisation was evident in 25 patients (48%). 13 unilateral (25%), 8 bilateral (15%) pneumatisations were detected in the group graded as minimal, whereas 1 unilateral and 3 bilateral pneumatisations were present in the markedly (8%) pneumatised group of patients. Superior turbinates were seemingly aerated through the posterior ethmoid cells. The superior turbinates can be pneumatised as the middle turbinate is a not frequent anatomic variation that should be taken into account in preendoscopic CT evaluation of the paranasal sinuses.

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La pneumatisation du cornet nasal supérieur : une variation anatomique courante ?

Résumé Les variations anatomiques sont importantes à connaitre dans le cadre du bilan tomodensitométrique précédant une chirurgie endoscopique des sinus paranasaux. Dans cette étude, nous avons recherché si le cornet nasal supérieur pouvait être pneumatisé comme l'est le cornet nasal moyen, entité anatomique bien connue. Les images de 52 patients ayant eu une tomodensitométrie avant chirurgie endoscopique et montrant des cellules ethmoïdales postérieures normalement pneumatisées et une cavité nasale nonopaque, ont été évaluées rétrospectivement. Les patients, 28 femmes et 24 hommes, étaient âgés de 12 à 68 ans (moyenne : 35 ans). La pneumatisation du cornet nasal supérieur a été classée en deux groupes; minime et prononçée. Cette pneumatisation était patente chez 25 patients (48 %). Treize pneumatisations unilatérales (25 %) et 8 pneumatisations bilatérales (15 %) furent retrouvées dans le groupe présentant une pneumatisation minime alors que 1 pneumatisation unilatérale et 3 bilatérales (8 %) étaient présentes dans le groupe dont la pneumatisation était plus marquée. Les cornets nasaux supérieurs semblaient être aérés par les cellules ethmoïdales postérieures. Les cornets nasaux supérieurs peuvent être pneumatisés, comme le sont les cornets nasaux moyens, avec une fréquence non-exceptionnelle. Cette variation anatomique mérite d'être prise en considération dans le bilan tomodensitométrique précédant toute chirurgie endoscopique des sinus paranasaux.

     

鼠抗人单克隆抗体LH7：2在营养不良型大疱性表皮松解症诊断中的应用

目的 探讨鼠抗人单克隆抗体LH7：2诊断营养不良型大疱性表皮松解症的意义。方法 采用间接免疫荧光法对临床诊断为营养不良型大疱性表皮松解症（DEB）,分别来源于3个不同家系各1名患者,包括2名显性遗传型营养不良型大疱性表皮松解症（dominant DEB,DDEB)和1名隐性遗传型营养不良型大疱性表皮松解症（recessive DEB,RDEB)进行皮肤基底膜带（BMZ）Ⅶ型胶原检测,同时选择单纯型大疱性表皮松解症（EBS）、大疱性类天疱疮及正常人各1名做对照。结果 3名对照BMZ免疫荧光阳性,2名DDEB荧光均减弱,RDEB荧光阴性。结论 鼠抗人单克隆抗体LH7：2诊断营养不良性大疱性表皮松解症有重要意义。     

The eye in epidermolysis bullosa.

AIMS: To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. METHODS: A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. RESULTS: 181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic EB; nine patients (5%) with dystrophic EB whose inheritance could not be ascertained; and seven cases (4%) of EB that could not be classified. Ocular problems were found in 12% (n = 6) of simplex patients and 40% (n = 6) of those with junctional disease. One patient (of 28) in the autosomal dominant dystrophic group had ocular involvement and 51% (37/72) of patients in the autosomal recessive dystrophic group had ophthalmic complications: corneal (25/72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). CONCLUSION: Ophthalmic complications are common in EB overall but the incidence varies widely with subtype. Ophthalmic complications are the most severe in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubricants.     

14例大疱性表皮坏死松解型药疹治疗体会

报告14例大疱性表皮坏死松解型药疹的治疗。以磺胺类药和解热镇痛药引起者居多,各4例。皮损面积按九分法计算,皮损面积80％以上者9例,80％以上者5例,治愈9例,死亡5例,我们认为早期使用足够剂量皮质激素类药物是有效措施。病程中注意防治感染,给予足够的液体以防止水电解质失平衡,局部治疗使用本院中药“五黄油”。     

痒疹样营养不良型大疱性表皮松解症一家系调查

报告痒疹样营养不良型大疱性表皮松解症一家系调查结果。该家系共5代34名成员,其中患病者15例(男8例,女7例),属常染色体显性遗传。先证者,女性,18岁。于1岁左右双踝部出现数个水疱,双胫前皮肤在外伤、搔抓后形成圆形或卵圆形丘疹、结节,似米粒至花生米大,暗红色,质地较硬,部分皮损表面有痂壳。双足多个趾甲增厚或脱失。皮损组织病理学表现为多处表皮下裂隙形成,真皮内散在较多的表皮样囊肿,并有少量淋巴细胞浸润。该家系中其他患者的皮损与先证者类似。     

15例重症新生儿单纯型大疱性表皮松解症的护理体会

对15例重症新生儿单纯型大疱型表皮松解症的患儿，通过正确的皮肤无菌护理，环境的消毒处置，适当的喂养，避免感染性休克。