1/26. Three hong kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease.Three patients in two families presented with many years' history of fragile skin, blisters, erosions and scars affecting almost exclusively the shin areas, accompanied by a variable degree of itching. Two of the patients also had toenail dystrophy. Skin biopsy revealed dermal-epidermal blister formation and milia but no immunohistochemical evidence of immunoglobulin or complement deposition. Electron microscopic study of the lesional and perilesional skin showed very sparse or absent anchoring fibrils. Immunolabelling for type VII collagen using LH 7.2 monoclonal antibody revealed a bright, linear staining pattern at the dermal-epidermal junction. The clinicopathological features were thus compatible with pretibial epidermolysis bullosa, a subtype of dystrophic epidermolysis bullosa. Of note, the inflammatory nature of the skin lesions, and their resemblance to nodular prurigo and hypertrophic lichen planus, had caused diagnostic difficulties in all cases in the past. A high degree of awareness of this rare subtype of epidermolysis bullosa is important to establish the correct diagnosis, to allow for genetic counselling and to plan clinical management.- - - - - - - - - - ranking = 1keywords = dermatosis (Clic here for more details about this article) |
2/26. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAMB3, LAMC2) encoding the laminin-5 chains cause junctional epidermolysis bullosa, a clinically and genetically heterogeneous blistering skin disease. Here, we describe a non-Herlitz junctional epidermolysis bullosa patient, compound heterozygote for two novel mutations affecting the LAMC2 gene. The mutation in the paternal allele is a de novo splice site mutation (522-1G-->A) that results in in-frame skipping of exon 4 and synthesis of a mutated gamma2 polypeptide (gamma2Delta4) carrying a 33 amino acid deletion within the N-terminal domain V. The maternal mutation is a one base pair insertion (3511insA) in the 3' terminal exon of LAMC2 resulting in a frameshift and a premature termination codon. mutation 3511insA is predicted to lead to the synthesis of a gamma2 polypeptide (gamma2t) disrupted in its alpha-helical C-terminal structure and truncated of the last 25 amino acids. keratinocytes isolated from the patient's skin showed a markedly decreased level of gamma2 chain mRNA and secreted scant amounts of laminin-5, which undergoes physiologic proteolytic processing. To investigate the biologic function of the laminin-5 molecules synthesized by the patient, mutant gamma2 cDNAs were transiently expressed in gamma2-null keratinocytes. transfection of the gamma2Delta4 cDNA resulted in restoration of laminin-5 deposition onto the culture substrate, which demonstrates that the gamma2 polypeptides carrying a deletion in domain V, upstream of the gamma2 proteolytic cleavage site, are assembled into native laminin-5 that is secreted and extracellularly processed. In contrast, transfection of a mutant cDNA expressing the gamma2t chain failed to restore laminin-5 immunoreactivity, which indicates that integrity of the gamma2 C-terminal amino acid sequences is required for laminin-5 assembly. These results correlate for the first time a functional alteration in a laminin-5 domain with a mild junctional epidermolysis bullosa phenotype.- - - - - - - - - - ranking = 0.56267343713764keywords = skin disease (Clic here for more details about this article) |
3/26. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.BACKGROUND: Kindler's syndrome is a rare genodermatosis mainly characterized by the onset of skin blistering in early childhood, web formation of fingers and toes, photosensitivity, and progressive poikiloderma. There is still debate whether this disease represents a distinctive entity in the spectrum of congenital bullous poikilodermas or a variant of dystrophic epidermolysis bullosa. OBJECTIVE: To evaluate the recently proposed and debated characteristic immunohistochemical and ultrastructural features of Kindler's syndrome. PATIENT/methods: Immunofluorescence (IF) antigen mapping and transmission electron microscopy (TEM) were performed on a skin specimen from non-sun-exposed inner aspect of the upper arm of a 49-year-old patient with characteristic clinical features of Kindler's syndrome. RESULTS: IF studies revealed focally an extensively broadened, partly reticular staining pattern in the dermoepidermal basement membrane zone (BMZ) with antibodies against laminin-5 and type IV as well as type VII collagen. Anti-alpha6 and beta4 integrin staining revealed small gaps in the linear reactivity in the BMZ. Abundant keratin bodies, as detected by anti-immunoglobulin m (IgM) staining, were focally present in the dermis, indicating prominent epidermal apoptosis. This was verified by a histochemical apoptosis stain [terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) reaction]. Transmission electron microscopic examination showed manifold reduplications of the lamina densa (with attached anchoring fibrils) as well as a keratin body surrounded by a fibroblast in the upper dermis. CONCLUSION: We present characteristic immunohistochemical and ultrastructural features of Kindler's syndrome identical to those described by Shimizu et al. and provide evidence that Kindler's syndrome might primarily be an apoptotic disorder of basal keratinocytes.- - - - - - - - - - ranking = 0.25keywords = dermatosis (Clic here for more details about this article) |
4/26. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.Genetic mutations in alpha6beta4 integrin cause junctional epidermolysis bullosa with pyloric atresia, a genodermatosis characterized by blistering of the skin and pyloric occlusion. The lethal form of junctional epidermolysis bullosa with pyloric atresia has been mainly associated with the presence of premature termination codons in the mRNA encoding either the alpha6 or beta4 subunit causing rapid decay of the mutated transcript and absence of alpha6beta4 integrin. In this study, we disclose the genetic background of lethal junctional epidermolysis bullosa with pyloric atresia in a patient presenting absent expression of alpha6 integrin despite normal steady-state level of the alpha6beta4 mRNA. Screening for mutation in the alpha6 gene detected a homozygous base pair substitution (286 C-to-T), which results in the substitution of a serine with a leucine residue (S47L). The amino acid substitution S47L localizes in the first beta-strand of the seven-bladed beta-propeller structure of the extracellular head of alpha6 integrin, and triggers a rapid proteolysis of the aberrant polypeptides involving the lysosomal degradation pathway. This study provides new insight into the pathogenic effect of a mis-sense mutation affecting a functional domain of a protein, and identifies a critical peptide sequence of the beta-propeller domain conserved among the alpha integrin cell receptors.- - - - - - - - - - ranking = 0.25keywords = dermatosis (Clic here for more details about this article) |
5/26. Anesthetic management of a difficult airway in a patient with epidermolysis bullosa: a case report.epidermolysis bullosa is an inherited skin disease that leads to an array of medical problems. patients are susceptible to blistering and scar formation following even minor trauma. These patients may present with scarring, limiting the range of motion of their temporal mandibular joint. This case report describes a 15-year-old patient with epidermolysis bullosa presenting for contracture release, with a difficult airway.- - - - - - - - - - ranking = 0.56267343713764keywords = skin disease (Clic here for more details about this article) |
6/26. Kindler syndrome: a case report and proposal for clinical diagnostic criteria.Kindler syndrome is a rare hereditary disorder characterized by acral blister formation in infancy and childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. Since it was first described in 1954, less than 100 cases have been reported worldwide. Recently it has been reported that Kindler syndrome is the first genodermatosis caused by a defect in the actin-extracellular matrix linkage, and the gene was mapped to chromosome 20p12.3. The clinical features of the syndrome have been annotated by different authors but the definite of criteria to confirm the diagnosis have not yet been generally accepted. We report a case of Kindler syndrome that presents a full spectrum of clinical manifestations, and we propose a set of clinical criteria for diagnosis.- - - - - - - - - - ranking = 0.25keywords = dermatosis (Clic here for more details about this article) |
7/26. epidermolysis bullosa: report of one case.epidermolysis bullosa (EB) is a group of inherited skin diseases manifested as bullae formation induced by minor trauma. According to the anatomical level of skin splitting, it could be classified mainly into three types: simplex, junctional and dystrophic EB. We have a female term newborn noted to have had skin defect and ulceration over lower legs concurrent with oral mucosal ulceration and blister formation since birth. New blisters occurred over friction and pressure areas shortly after birth. The histopathologic pictures revealed dystrophic type of EB. These lesions seemed responsive to phenytoin and topical skin care, healing gradually with minimal scarring and atrophy. However, it is important to follow these patients to help alleviate complications of extracutaneous involvement which may occur during later life.- - - - - - - - - - ranking = 0.56267343713764keywords = skin disease (Clic here for more details about this article) |
8/26. Transient acantholytic dermatosis treated with isotretinoin.Transient acantholytic dermatosis is a self-limiting benign disease. It is characterized by multiple pruritic erythematous papules and papulovesicles found predominantly on the trunk and extremities. This primary acantholytic dermatosis affects individuals older than 40 years. We present a case study of an individual who received a regimen of isotretinoin (Accutane) for treatment of severe pruritus after conventional forms of therapy failed to alleviate his condition and abate the formation of new lesions.- - - - - - - - - - ranking = 1.5keywords = dermatosis (Clic here for more details about this article) |
9/26. Bullous congenital ichthyosiform erythroderma masquerading as dystrophic epidermolysis bullosa.A black baby, born at full term of a normal healthy mother, showed multiple erosions and ulcers. No history of skin diseases was known in the family. A skin biopsy taken shortly after birth from an arm lesion showed subepidermal edema and cavity formation. Electron microscopy showed clumping of microfibrils and anchoring fibril-like fibers at the dermo-epidermal junction. In more severely affected areas, absence of anchoring fibrils and collagenolysis were found and the diagnosis of dystrophic epidermolysis bullosa was made. Two weeks later, the lesions healed without leaving scars and a second biopsy from the chest area revealed typical histopathology of epidermolytic hyperkeratosis.- - - - - - - - - - ranking = 0.56267343713764keywords = skin disease (Clic here for more details about this article) |
10/26. Laryngotracheal involvement in epidermolysis bullosa.epidermolysis bullosa (EB) is a rare hereditary skin disease of infancy that can involve the mucous membranes of the oral cavity. Laryngotracheal involvement is rare. The disease is characterized by bullae formation in response to minor trauma. There are at least 18 described types of EB, however, there are 3 basic categories. These are simplex (with disruption above the basement membrane), dystrophic (in which disruption is below the basement membrane), and junctional (in which the split is within the lamina lucida). The prognosis of the different types ranges from early death usually secondary to overwhelming sepsis, to long term survivals with lack of growth retardation or significant dystrophic scarring. Presently, survival appears to be the only reliable criteria for distinguishing the benign and lethal forms of EB. airway obstruction secondary to laryngotracheal involvement should be considered in any child with epidermolysis bullosa presented with symptoms of respiratory distress. Because there are few predictive prognostic indicators in the neonatal period, tracheotomy should be considered early in an effort to prevent further laryngeal injury from intubation, in those patients that will survive.- - - - - - - - - - ranking = 0.56267343713764keywords = skin disease (Clic here for more details about this article) |
| | Next -> |