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Biomedical subjects

Kikuo Tsuchiya

Publications and source records attributed to Kikuo Tsuchiya.

5 recordsLinked to original sources

Multiple elastofibromas.

Elastofibroma is an uncommon fibroelastic tumor or tumorlike process that usually occurs between the scapula and the chest wall of elderly patients. This condition is rarely reported in the dermatologic literature, because it infrequently arises in the skin or within the subcutaneous tissue. We present a 78-year-old man with 15 separate subcutaneous nodules on the buttocks and upper extremities together with bilateral subscapular nodules. All specimens taken from different lesions were histologically confirmed as elastofibromas. As far as we know, this case with 17 distinct elastofibromas demonstrates the largest number ever reported in a single patient. Although the pathomechanism of the occurrence of multiple elastofibromas is unknown, it should be included in the differential diagnosis of multiple subcutaneous nodules.

Aged↗

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene (renamed "KIND1" [encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.

Abnormalities, Multiple↗

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.

Adolescent↗