1/107. IgA multiple myeloma presenting as an acquired bullous disorder.A 63-year-old man presented with an intensely pruritic vesiculo-bullous eruption on the limbs and was subsequently found to have an IgA kappa multiple myeloma. The eruption clinically and histologically was suggestive of linear IgA disease (LAD), dermatitis herpetiformis (DH), epidermolysis bullosa acquisita (EBA), or bullous lupus erythematosus (LE), with the skin biopsy revealing subepidermal bullae and dermal papillary micro-abscesses. However, direct immunofluorescence showed a unique pattern of diffuse dermal IgA staining. Although chemotherapy produced a dramatic resolution of the lesions, which paralleled the fall in serum IgA paraprotein level, the myeloma later became progressive and the resulting paraprotein increase was accompanied by recurrence of the eruption. We propose that this patient's rash was the presenting manifestation of his multiple myeloma, and was a consequence of transudation of IgA paraprotein into the dermis.- - - - - - - - - - ranking = 1keywords = epidermolysis bullosa, herpetiformis, epidermolysis, bullosa (Clic here for more details about this article) |
2/107. Subepidermal autoimmune bullous skin diseases associated with B-cell lymphoproliferative disorders.The development of several types of autoimmune disorders is well known in the course of B-cell lymphoproliferative diseases. In order to investigate whether these autoimmune diseases may target cutaneous antigens, especially those of the dermal-epidermal junction, we conducted a retrospective analysis of all cutaneous direct immunofluorescence studies performed in patients with B-cell neoplasia who presented with cutaneous lesions requiring a skin biopsy. patients with linear deposits of immunoglobulin or C3 molecules at the dermal-epidermal junction were studied further, using immunoblotting and immunoelectron microscopy. patients with no overt hematologic malignancies but with cutaneous lesions requiring direct immunofluorescence were studied as a control population. During the study period, the diagnosis of autoimmune blistering diseases of the dermal-epidermal junction was established in 9/102 (8.9% /- 2%) patients with a B-cell lymphoid disorder, compared with 288/8,189 (3.5% /- 0.04%) patients without underlying hemopathy (p < 0.01). Among the 9 patients, 7 were studied in detail. Immunologic studies demonstrated epidermolysis bullosa acquisita in 6 patients and cicatricial pemphigoid in 1. Autoimmune blistering diseases, especially epidermolysis bullosa acquisita, are part of the spectrum of autoimmune disorders associated with B-cell neoplasia.- - - - - - - - - - ranking = 1.5849871259948keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
3/107. A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of siemens.ichthyosis bullosa of siemens is a unique type of congenital ichthyosis characterized by mild hyperkeratosis over the flexural areas and blister formation after mechanical trauma and superficial denuded areas in the hyperkeratotic skin. Recently, mutations in the helix initiation or termination motifs of keratin 2e (KRT2E) have been described in ichthyosis bullosa of siemens patients. The majority of the mutations reported to date lie in the 2B region. We report a novel amino acid substitution mutation (asparagine-->aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of siemens. Our data indicate aspartic acid substitution in codon 192 in the 1A helix initiation site is deleterious to keratin filament network integrity and leads to ichthyosis bullosa of siemens phenotype.- - - - - - - - - - ranking = 0.60587149948555keywords = bullosa (Clic here for more details about this article) |
4/107. A subepidermal bullous eruption associated with IgG autoantibodies to a 200 kd dermal antigen: the first case report from the united states.We describe an 81-year-old white man in whom a subepidermal bullous eruption developed that clinically resembled bullous pemphigoid. The eruption promptly responded to oral tetracycline and niacinamide and topical clobetasol. Histologic examination of perilesional skin revealed neutrophilic infiltration with formation of papillary microabscesses and subepidermal cleavage. Direct immunofluorescence showed linear deposition of IgG and C3 along the basement membrane zone. By indirect immunofluorescence, circulating IgG autoantibodies bound exclusively to the dermal side of salt-split normal human skin. Immunoblot analysis demonstrated that the patient's autoantibodies reacted with a 200 kd dermal protein that was different from type VII collagen, the epidermolysis bullosa acquisita autoantigen. This patient represents the first confirmed case from the united states with a recently reported novel autoimmune subepidermal bullous disease associated with IgG autoantibodies to a 200 kd dermal antigen.- - - - - - - - - - ranking = 0.7924935629974keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
5/107. autoantibodies in anti-p200 pemphigoid stain skin lacking laminin 5 and type VII collagen.We report the case of a patient with a widespread bullous skin disease and linear deposits of IgG and C3 at the dermal-epidermal junction using direct immunofluorescence microscopy. Indirect immunofluorescence analysis demonstrated circulating IgG autoantibodies that stained, like autoantibodies to laminin 5 and type VII collagen, the dermal side of 1 mol L-1 NaCl-split human skin. By immunoblotting dermal extracts, the patient's serum, like serum samples from two control patients, reacted with a 200-kDa protein. Using immunoelectron microscopy, the serum labelled a component of the lower lamina lucida, but not the lamina densa/sublamina densa region, distinguishing this from the type VII collagen localization pattern. By immunofluorescence microscopy on skin sections from patients lacking either laminin 5 (Herlitz's epidermolysis bullosa) or type VII collagen (recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens), the patient's serum retained reactivity with these test substrates. The patient's disease responded rapidly to the use of topical corticosteroids and lesions healed without scarring or milia formation. Our results provide strong evidence for the hypothesis that the 200 kDa autoantigen is different from laminin 5 and type VII collagen. For this new disease, we propose the designation 'anti-p200 pemphigoid'.- - - - - - - - - - ranking = 1.5849871259948keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
6/107. linear iga bullous dermatosis responsive to a gluten-free diet.dermatitis herpetiformis is associated with a gluten-sensitive enteropathy in >85% of cases. Both the skin lesions and the enteropathy respond to gluten restriction. linear iga bullous dermatosis has a much lower prevalence of histological small bowel abnormalities, and lesions are not known to respond to gluten restriction. We report a patient with linear iga bullous dermatosis and gluten-sensitive enteropathy. This report addresses the issue of whether linear iga bullous dermatosis can be associated with gluten-sensitive enteropathy. We evaluated the response to gluten restriction and normal diet by following the status of the patient's jejunal biopsies and skin lesions. The patient responded to gluten restriction, as shown by resolution of jejunal abnormalities and skin lesions and subsequently by recurrence of jejunal abnormalities and skin lesions with reinstitution of a gluten-containing diet. This report demonstrates that linear iga bullous dermatosis can respond to gluten restriction if an underlying gluten-sensitive enteropathy is present.- - - - - - - - - - ranking = 0.2075064370026keywords = herpetiformis (Clic here for more details about this article) |
7/107. Linear IgA dermatosis presenting with erythema annulare centrifugum lesions: report of three cases in adults.Linear IgA dermatosis presented with erythema annulare centrifugum lesions in three elderly women. Search for underlying malignancy revealed low-grade B-cell lymphoma in one case. In addition to subepidermal blistering, histology showed a typical mixed infiltrate of granulocytes and eosinophils and, occasionally, papillar microabsesses in one case. In the two other subjects, characteristic subepidermal lining with granulocytes was observed. Immunofluorescence studies confirmed the diagnosis, while autoantibodies characteristic for dermatitis herpetiformis were absent. To our knowledge this is the second report of adult linear IgA dermatosis in association with erythema annulare centrifugum lesions. Our observations concord with several other reports of figurate erythema associated with autoimmune blistering disease and other immune disorders. Common antibody-related immunological mechanisms indicate that the two distinct clinical pictures are probably stages of the same pathogenic entity.- - - - - - - - - - ranking = 0.2075064370026keywords = herpetiformis (Clic here for more details about this article) |
8/107. Ongoing blistering in a boy with congenital erosive and vesicular dermatosis healing with reticulated supple scarring.Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare entity presenting in the newborn with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars. A 9-year-old boy presented with a diagnosis of junctional epidermolysis bullosa, but displayed this characteristic scarring pattern and very mild ongoing blistering. In addition, he had severe chronic conjunctivitis due to cicatricial alopecia of the eyelashes and lacrimal duct obstruction. He had no evidence of enamel defects or other features of junctional epidermolysis bullosa. Ultrastructural analysis of his skin biopsy specimens showed a normal dermoepidermal junction. This characteristic scarring disorder may be associated with mild ongoing blistering and must be distinguished from other congenital blistering disorders.- - - - - - - - - - ranking = 1.5849871259948keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
9/107. Exclusion of COL7A1 mutation in Kindler syndrome.We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's dna excluded any pathogenic COL7A1 mutations.- - - - - - - - - - ranking = 0.7924935629974keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
10/107. Self-healing congenital Langerhans cell histiocytosis presenting as neonatal papulovesicular eruption.BACKGROUND: Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare condition which may present at birth or during the neonatal period. It is usually characterized by the eruption of multiple, disseminated, red-brown papules and nodules which may increase in size and number during the first few weeks of life. Systemic signs are usually absent except for occasional mild hepatomegaly. OBJECTIVE: We present a 3.5-kg male infant who presented at birth with numerous diffuse, erythematous, crusted erosions. He was presumed to have congenital herpes simplex virus (HSV) and was started on IV acyclovir. Histopathologic examination revealed a mixed inflammatory infiltrate with numerous histiocytes which were S-100 and peanut agglutin positive consistent with CSHLCH. Further workup did not reveal any signs of systemic involvement. CONCLUSION: CSHLCH has rarely been reported to present as a papulovesicular eruption at birth. In these cases, a viral etiology is commonly entertained in the differential diagnosis. Despite the spontaneous regression of skin lesions in CSHLCH, close followup is required to evaluate for systemic signs and symptoms associated with latent Letterer-Siwe disease.- - - - - - - - - - ranking = 0.00049623295174076keywords = simplex (Clic here for more details about this article) |
| | Next -> |