1/3. A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.We described a 19-year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. sequence analysis demonstrated a C to G transition at the first position of codon 156 in the keratin 10 gene. The amino acid at codon 156 was deduced to have changed from arginine to cystine. Substitution from arginine to cysteine at codon 156 of the K 10 gene is assumed to be fatal for keratin filament assembly regardless of racial or ethnic difference.- - - - - - - - - - ranking = 1keywords = epidermis (Clic here for more details about this article) |
2/3. ichthyosis bullosa of siemens--a disease involving keratin 2e.ichthyosis bullosa of siemens (IBS) is a congenital bullous ichthyosis without erythroderma. In contrast to bullous congenital ichthyosiform erythroderma (BCIE), there is a relatively mild involvement of the skin and epidermolytic hyperkeratosis (EHK) is restricted to the upper suprabasal layers of the epidermis. Tonofilament aggregation was observed by EM in suprabasal cells from affected patients in the two families under study, indicative of a keratin abnormality. Keratin 2e is a differentiation specific type II keratin expressed suprabasally in the epidermis. Part of the K2e gene was amplified by polymerase chain reaction using genomic dna from affected and unaffected individuals from two IBS families. Direct sequencing of polymerase chain reaction products revealed a point mutation in the highly conserved helix termination motif, producing the protein sequence change LLEGEE-LLEGKE. This mutation was found in all affected members of a five-generation kindred and also in a sporadic case in a second unrelated family. No mutation was seen in unaffected individuals. The mutation destroys a MnlI restriction site, which allowed exclusion of the mutation from a population of 50 unaffected unrelated individuals by restriction fragment analysis of K2e PCR products. This is the sixth keratin gene found to be involved in an inherited epidermal disorder.- - - - - - - - - - ranking = 2keywords = epidermis (Clic here for more details about this article) |
3/3. Isolated dyskeratotic acanthoma. A variant of isolated epidermolytic acanthoma.Disorders affecting the maturation of the epidermis are regarded as incidental findings in normal skin and otherwise unrelated benign lesions. These include epidermolytic hyperkeratosis, focal acantholytic dyskeratosis, and pagetoid dyskeratosis. The former two entities also occur as primary pathologic lesions. We report a hyperkeratotic lesion with a specific histologic pattern consisting of dyskeratotic cells throughout the epidermis and a parakeratotic horn, with large, rounded cells at all levels of the stratum corneum. Because we believe it to be a variant of the solitary, acquired lesions characterized by abnormal epidermal maturation, such as epidermolytic acanthomas, we suggest the term "dyskeratotic acanthoma" for this lesion.- - - - - - - - - - ranking = 2keywords = epidermis (Clic here for more details about this article) |