1/14. 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 = 1keywords = skin disease (Clic here for more details about this article) |
2/14. 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 = 1keywords = skin disease (Clic here for more details about this article) |
3/14. 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 = 1keywords = skin disease (Clic here for more details about this article) |
4/14. 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 = 1keywords = skin disease (Clic here for more details about this article) |
5/14. 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 = 1keywords = skin disease (Clic here for more details about this article) |
6/14. skin diseases in tropical africa. Medical, social, and economic implications.Diseases, ignorance, and poverty are linked in a vicious web in africa. Economic changes (foreign debts) and frequent political instability (eg, due to military coups), refugee influx, and industrialization have had profound effects on skin diseases. The interaction of these influences on skin diseases is discussed, and suggestions are made to bring about some improvement.- - - - - - - - - - ranking = 2keywords = skin disease (Clic here for more details about this article) |
7/14. Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica.An osteogenic sarcoma of the tibia occurred in an eight-year-old boy with epidermolysis bullosa dystrophica hereditaria (EBDH) (Hallopeau-Siemens type). The patient had had the congenital skin disease since the time of birth. A painful swelling appeared in the proximal portion of his right tibia, which was diagnosed as osteogenic sarcoma on biopsy study. The patient died of massive pulmonary metastases and cachexia four months after the onset of the tumor. Osteogenic sarcoma in a patient with EBDH seems not to have been previously reported. EBDH has been known to be occasionally associated with squamous cell carcinoma. Whether an impairment of the patient's defense mechanism by the chronic skin disease might have enhanced the rapid progression of the associated bone malignancy is unknown.- - - - - - - - - - ranking = 2keywords = skin disease (Clic here for more details about this article) |
8/14. Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.Epidermolysis bullosa letalis has been associated with congenital pyloric atresia in an autosomal recessive syndrome. This report documents the second occurrence in premature siblings. Our review indicates that it is a lethal condition with death due to the septic complications of epidermolysis bullosa letalis. Surgical management of pyloric atresia should be withheld until the severity of the epidermolysis is known. Skin biopsy to document the type of epidermolysis bullosa is imperative as only the letalis form is documented to be lethal. The risk for subsequent siblings is 25% and parents should undergo genetic counseling. prenatal diagnosis of epidermolysis bullosa letalis can be made by fetoscopic skin biopsy. We suggest nonoperative management of pyloric atresia unless the skin disease is responsive to treatment.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
9/14. Anaesthesia for children with junctional epidermolysis bullosa (letalis).The anaesthetic management of two children with junctional epidermolysis bullosa, formerly called the letalis form, is described. Anaesthesia for children with this disease has not been described previously. Special precautions were taken to avoid mucosal injury and some customary monitoring devices were omitted. The previous anaesthetic literature, which discusses related but distinct forms of bullous skin diseases, is reviewed. The special concerns which relate to airway management in this disease are discussed.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
10/14. vaccinia virus persistence in a child against the background of immune deficiency.A young girl, vaccinated against smallpox 6 years before suffered from a persistent vaccinia virus infection and a congenital skin disease, i.e. epidermolysis bullosa. The virus was isolated from skin lesions at the vaccination site and remote sites and repeatedly from the blood; it was not isolated from bone-marrow specimen, saliva, pharynx or urine. The titre of virus-neutralizing antibodies was low (1:10), immunoglobulins A, M and G were within age-related limits; antibodies against measles and tetanus were at protective levels, skin tests were positive. Staphylococcal antitoxin titre was extremely high. The child's mother, not vaccinated against smallpox, possessed vaccinia--virus-neutralizing antibodies at high titre (over 1:320). Examination of the child did not show any quantitative immune deficiency. Immune deviations were found in the lymphocyte blast-transformation reaction on stimulation with PHA and specific antigen, as well as in the nonspecific-suppression test. The possible genesis of the virus persistence and the role of the virus in the clinical course of the disease are discussed.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
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