Epidermolysis bullosa nevus: case report and literature review

Acquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi'. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with Epidermolysis bullosa simplex. The global dermoscopic pattern was suggestive of benignity, and the histopathological findings were compatible with a compound melanocytic nevus. This is the first published case of Epidermolysis bullosa nevi in Brazilian literature. Despite their benign behavior, we emphasize the importance of regular clinical and dermoscopic monitoring, since a malignant course still cannot be totally excluded.     

Epidermolysis bullosa simplex in Israel: clinical and genetic features

BACKGROUND: Epidermolysis bullosa simplex (EBS) is the most common form of epidermolysis bullosa. The disease is characterized by intraepidermal blistering due in most cases to mutations in cytokeratin genes 5 (K5) or 14 (K14). Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion. OBJECTIVE: To assess the possibility that the molecular features of EBS may differ according to the type of population studied. DESIGN: We assessed 10 Israeli families diagnosed as having EBS and compared their clinical and genetic features with previous observations. Affected individuals underwent complete clinical evaluation. DNA from all family members was assessed for mutations in K5 or K14 using polymerase chain reaction amplification, direct sequencing, and subsequent mutation verification. In addition, specific cases were genotyped using a panel of microsatellite markers spanning the K14 locus. RESULTS: Eight distinct pathogenic mutations in K5 (3 mutations) and K14 (5 mutations) were identified. Six of these mutations are novel. The mutations included 2 nonsense mutations and 6 missense mutations. A third of the affected families inherited EBS in a recessive fashion, in contrast with previous observations in Europe and the United States. In addition, we identified a unique case that resulted from compound heterozygosity for a missense and a nonsense mutation in K14. Homozygous nonsense mutations were strongly associated with a severe phenotype. CONCLUSION: The present study demonstrates a unique mutation spectrum and a strikingly different pattern of inheritance for EBS in a series of Israeli families compared with families of European or US extraction.     

Epidermolysis bullosa: prospects for cell-based therapies

Heritable forms of epidermolysis bullosa (EB) are characterized by chronic, lifelong blistering and erosions due to mutations in 10 distinct genes expressed at the cutaneous basement membrane zone. No specific treatment for this group of intractable diseases is currently available. Recent progress in molecular therapies has indicated that cell-based approaches may potentially offer amelioration--and perhaps even cure--for afflicted individuals. In this issue, Wong et al. (2008) demonstrate the feasibility of direct intradermal injection of allogeneic fibroblasts to the lesional skin of patients with recessive dystrophic EB, with improvement in skin fragility.     

Epidermolysis bullosa : Diagnosis and therapy

Hereditary epidermolysis bullosa is characterized by mechanically induced blistering of the skin and mucous membranes. The causative mechanisms are based on mutations in genes for structural proteins of the epidermis and the dermal-epidermal junction zone. EB is genetically and clinically heterogeneous. Based on the clinical phenotype alone, the diagnosis is difficult in newborns and toddlers, and sometimes even in adults. A precise diagnosis is only possible with laboratory tests like immunofluorescence mapping, electron microscopy and mutation analysis in specialized centers. The treatment is symptomatic and based on the principles of good wound management and ?C for severe cases ?C on multidisciplinary care. New data on the pathogenetic mechanisms of epidermolysis bullosa deliver perspectives for development of novel molecular therapies.     

Key points in dermoscopic differentiation between early acral melanoma and acral nevus

Acral skin is the most prevalent site of malignant melanoma in non-Caucasian populations. On acral skin, other various kinds of pigmented lesions are also detected. Particularly, melanocytic nevus is commonly seen on acral volar skin; approximately 10% of Japanese have a nevus on their soles. Prognosis of acral melanoma is still generally poor because of delayed detection in the advanced stages. To improve the prognosis, early detection is essential. Early acral melanoma is seen as a brownish macule, which is clinically quite similar to acral nevus. Therefore, clinicians often face a dilemma when they see a pigmented macule on acral volar skin. Introduction of dermoscopy was a great epoch in this field. Pigmentation pattern on dermoscopy is completely opposite between early acral melanoma and acral nevus; pigmentation on the ridges of the surface skin markings is detected in early acral melanoma, whereas pigmentation along the furrows of the skin markings is seen in acral nevus. We termed these dermoscopic patterns the parallel ridge pattern and the parallel furrow pattern, respectively. These features are highly helpful in the differentiation between the two biologically distinct entities. The sensitivity and specificity of the parallel ridge pattern in diagnosing early acral melanoma is 86% and 99%, respectively. However, we must be aware that dermoscopic features in acral nevus sometimes mimic the parallel ridge pattern and that other conditions also could show dermoscopic features similar to the parallel ridge pattern. In this review article, we summarize key points of the dermoscopic diagnosis of early acral melanoma and then describe the three-step algorithm for the management of acral melanocytic lesions, which surely aids us in effectively detecting early acral melanoma and in reducing unnecessary resection of benign nevus.     

Amelanotic/hypomelanotic melanoma: clinical and dermoscopic features

BACKGROUND: Amelanotic malignant melanoma is a subtype of cutaneous melanoma with little or no pigment on visual inspection. It may mimic benign and malignant variants of both melanocytic and nonmelanocytic lesions. OBJECTIVES: To evaluate whether dermoscopy is also a useful technique for the diagnosis of amelanotic/hypomelanotic melanoma (AHM). METHODS: We conducted a retrospective clinical study of 151 amelanotic/hypomelanotic skin lesions from 151 patients with a mean age of 47 years (+/- 17.5 SD). Digitized images of amelanotic/hypomelanotic skin lesions were converted to JPEG format and sent by e-mail from the five participating centres. Lesions included 55 amelanotic/hypomelanotic nonmelanocytic lesions (AHNML), 52 amelanotic/hypomelanotic benign melanocytic lesions (AHBML), and 44 AHM, 10 (23%) of which were nonpigmented, truly amelanotic melanomas (AM). The 44 AHM lesions were divided into thin melanomas (TnM) 1 mm (15 cases), according to the Breslow index. Five clinical features (elevation, ulceration, shape, borders and colour) as well as 10 dermoscopic criteria (pigment network, pigmentation, streaks, dots/globules, blue-whitish veil, regression structures, hypopigmentation, leaf-like areas, multiple grey-bluish globules, central white patch) and eight vascular patterns (comma, arborizing, hairpin, dotted, linear irregular, dotted and linear irregular vessels, and milky-red areas) were evaluated in order to achieve clinical and dermoscopic diagnoses. Statistical analyses were performed with the chi2-test and Fisher's exact test, when appropriate. RESULTS: The most frequent and significant clinical features for TnM and TkM were asymmetry and ulceration (the latter only for TkM) compared with AHBML. Irregular dots/globules (62% vs. 35%; P 相似文献   

Epidermolysis bullosa acquisita: a retrospective clinical analysis of 30 cases

Epidermolysis bullosa acquisita (EBA) is an acquired, autoimmune blistering disorder caused by autoantibody production against type VII collagen. The aim of this study was to examine the clinical types, treatments, and outcomes of 30 patients with EBA. In our cohort, the median age of onset was 44.0 years, with a similar incidence for both genders (46.7% male, 53.3% female). The majority of patients had classic type (36.7%) and bullous pemphigoid (BP)-like type (46.7%) EBA. The remaining patients had mucous membrane pemphigoid-like (6.7%), Brunsting-Perry pemphigoid-like (6.7%), and linear IgA bullous dermatosis-like type (3.3%) EBA. All patients were treated initially with a combination of methylprednisolone, dapsone and colchicine. No significant differences in time to remission were identified between patients with classic vs. BP-like EBA. In a second subset analysis of 19 patients, a group treated with high-dose (>?8 mg) methylprednisolone achieved remission earlier (median time to remission: 3 months) than a group treated with low-dose (≤?8 mg) methylprednisolone (median time to remission: 12 months), irrespective of clinical type (p?=?0.003).     

Epidermolysis bullosa: new and emerging trends

Epidermolysis bullosa is a family of inherited blistering skin disorders characterized by blister formation in response to mechanical trauma. Major types of epidermolysis bullosa include epidermolysis bullosa simplex, hemidesmosomal epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. Current treatment for epidermolysis bullosa consists of supportive care for skin and other organ systems and entails a combination of wound management, infection support for chronic wounds, surgical management as needed, nutritional support, and preventative screening for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. The regimen must be tailored specifically to the severity and extent of skin and systemic involvement in each case. Recent studies have identified specific protein and genetic abnormalities for most epidermolysis bullosa subtypes. These new advancements in the understanding of molecular pathophysiology have provided much of the basis for current efforts to develop effective gene and protein therapy for epidermolysis bullosa.     

Epidermolysis bullosa: diagnosis and prenatal diagnosis

Recent advances in the diagnosis and prenatal diagnosis of severe forms of epidermolysis bullosa (EB) have been reviewed. Using electron microscopy and immunohistochemistry of specific monoclonal antibody, foetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB. Recently, elucidation of the specific gene mutation in affected individuals allowed us to perform DNA-based prenatal diagnosis during the first trimester of pregnancy. Our own experience with prenatal diagnosis of EB at the Special Clinic for Inherited Skin Disorders at Keio University Hospital for the last six years is summarized.     

Epidermolysis bullosa: the challenges of wound care

Epidermolysis bullosa (EB) is a severe blistering skin disorder. Care for an individual diagnosed with EB can be challenging. Wound care for the more severe types of EB can consume an individual's life; therefore, one of the most important nursing considerations is to educate individuals and family members about proper wound care, products, and different dressing techniques.     

Epidermolysis bullosa acquisita: an autoimmune disease with distinctive immunoultrastructural features

Epidermolysis bullosa acquisita is a subepidermal bullous disease of the skin with distinctive clinical, histologic, immunologic, and ultrastructural features. A case of epidermolysis bullosa acquisita is presented in which the onset of the disease was heralded by inflammatory blisters similar to herpes simplex or herpes zoster. The immunofluorescent findings were indistinguishable from bullous pemphigoid. Although some inflammatory blisters persisted throughout the evolution of the disease, the patient eventually developed noninflammatory blisters that healed with milia formation and scarring, lesions typical of classic epidermolysis bullosa acquisita. The diagnosis of epidermolysis bullosa acquisita was definitely made by electron and immunoelectron microscopy which showed a sub-lamina-densa blister cleavage plane and immune deposits beneath the lamina densa. This case illustrates that some cases of epidermolysis bullosa acquisita may have an inflammatory stage and immunofluorescent findings that make it difficult to distinguish from inflammatory bullous diseases. The value of electron microscopy and immunoelectron microscopy in making a firm diagnosis of epidermolysis bullosa acquisita is emphasized.