No abstract available.
Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa*

Epidermolysis bullosa dystrophica is a rare skin disease characterized by milia, nail dystrophy, andblistering of the skin and mucous membranes in response to minimal trauma. A forty years old man had typical skinlesions on the extremities, and the presence of distal phalangeal wedge deformity with soft tissue webbing wasnoted. multiple segmental strictures and ulceration involved the cervical and distal esophagus. Esophageal balloondilatation was therefore performed and dysphagia was relieved. The authors describe a case involving multipleesophageal strictures and musculoskeletal lesion, with clinically and radiologically documented epidermolysisbullosa dystrophica.
Congenital Abnormalities ; Constriction, Pathologic* ; Deglutition Disorders ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Esophagus ; Extremities ; Mucous Membrane ; Skin ; Skin Diseases ; Ulcer

BACKGROUND: In epidermolysis bullosa acquisita, it has been recognized that there exists heterogeneity in the clinical and serologic/immunopathologic features. OBJECTIVE: We examined patients with epidermolysis bullosa acquisita to see if there were any associated clinical and serological features which may predict disease activity or prognosis in the disease. METHODS: Clinical and some serologic features were compared. between 2 groups of patients with epidermolysis bullosa acquisita; one with complete remission of the symptoms and signs of the disease for more than 2 years and the other group with persistent disease activities of longer than 5 years.
Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa* ; Humans ; Population Characteristics ; Prognosis

Introduction: Epidermolysis Bullosa Pruriginosa (EBP) is a rare subtype of the inherited Dystrophic ~ Epidermolysis Bullosa spectrum of diseases and results from a gene mutation in COL7AL Though predominantly an autosomal dominant disease, autosomal recessive and even sporadic have been reported. Case Summary: Case Summary:We report a case of a 12-year-old Filipino male presenting with a chronic history of numerous scratching-induced blisters predominantly distributed on the extensor aspect of his arms and legs without concomitant oral lesions, nail dystrophy, or hair findings, and without a family history of similar lesions. Histopathologic assessment, Direct Immunofluorescence (DIF), and Indirect Immunofiuorescence (IIF) showed a subepidermal split with scant inflammatory infiltrates, no immunofluorescence, and absent userrated linear immunofluorescence at the dermal-side of the Salt Split Skin slide, respectively, which were all consistent with EBP. Enzyme-Linked Immunosorbent Assay (ELISA) for Anti-Collagen VII antibodies was slightly elevated, which may suggest an alternative diagnosis of Epidermolysis Bullosa Acquisita (EBA). This slight elevation may be due to the mutated Collagen Vil protein becoming antigenic and therefore provoking an immune response. To conclusively distinguish EBP from EBA, a COL7AI gene mutation analysis was recommended. With a diagnosis of EBP cannot totally rule out EBA, the patient was initially managed with dapsone monotherapy, counseled regarding behavioral modification to reduce scratching and trauma, advised wound care and close monitoring for the development of oropharyngeal lesions, and recommended for COL7A1 genetic mutation analysis. Conclusion This report demonstrates a case of EBP with elevated Anti-Collagen VII antibodies. The diistinction between EBP and EBA is important because this changes the management: EBP is largely supportive, while EBA may benefit from immunosuppressive therapy.
Epidermolysis Bullosa Pruriginosa ; Enzyme-Linked Immunosorbent Assay ; Epidermolysis Bullosa Acquisita

No abstract available.
Ectodermal Dysplasia 1, Anhidrotic* ; Humans

Hypohidrotic ectodermal dysplasia (HED) is a hereditary disorder characterized by abnormal development of tissues derived from ectoderm. A case of hypohidrotic ectodermal dysplasia was reported, and the molecular biological progress in this area were reviewed.
Ectodermal Dysplasia 1, Anhidrotic ; Humans

Epidermolysis bullosa dystrophica is a rare, chronic non-infIammatory mechanobullous disease of hereditsry trait, which easily produces bulla by minor injury or spontaneously. Bullae usually developed first at birth or in infancy, involving especially hands, feet, knees, elbows and other pressure sites, which heal with atrophic and hypertrophic scars, loss of hair and nails, digital fusion, flexural contractures of the knee, elbow and wrist joints. A 5-year-old boy has had various sized recurrent buIlae on hands, feet, kneces and elbows, healed with atrophy of skin, miliums, deformities of toe and finger nails. Diagnosis was confirmed by clinical features and electronmicroscopic findings. Literature were reviewed briefly.
Atrophy ; Child, Preschool ; Cicatrix, Hypertrophic ; Congenital Abnormalities ; Contracture ; Diagnosis ; Elbow ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Fingers ; Foot ; Hair ; Hand ; Humans ; Knee ; Male ; Parturition ; Skin ; Toes ; Wrist Joint

No abstract available.
Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa*

No abstract available.
Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa*

We report a case of epidermolysis bullosa acquisita in a 53 year-old woman who had. extreme skin fragility, trauma induced blisters and erosions usually localized to extensor site of the skin surface, and healing with scars and milia for several years. Histologic findings of perilesional skin showed normal epidermis, subepid malblister and spirsely infiltration of inflammatory cells. Direct immuncofluorescence showed depositiori of IgCi and C3 in a linear pattern along the epidermal basement, membrane in the per ilesional skin. In indirect immuriofluorescence, using 1.0M sodium chloride separated nor mal human skin as the sntbstrate, antitodies(IgG at a titer of 1:40) were bound to dermal site of the separation, indicating that the patient serum yields the reaction in or below the lamiria densa. Electronmicroscopic findings showed the roof of the blister was located. below the basal lamiria.
Blister ; Cicatrix ; Epidermis ; Epidermolysis Bullosa Acquisita* ; Epidermolysis Bullosa* ; Female ; Humans ; Membranes ; Middle Aged ; Skin ; Sodium Chloride