A family of Bart-Pumphrey syndrome.

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.

In Silico Study of Human Gap Junction Beta-2 Protein by Homology Modeling

Asp66his, Asp54Lys, and Asp50Asn are mutations in connexin 26 that are observed in the clinic and give rise to autosomal dominant syndromes. They are the result of point mutations in the human gap junction beta-2 gene. In order to investigate the structural mechanism of Bart-Pumphrey Syndrome, Keratitis-Ichthyosis-Deafness Syndrome, and Vohwinkel Syndrome, homology modeling was carried out. Asp66 has direct contact with Asn62 by two hydrogen bonds in the wild-type protein, and in Asp66His, the biggest change observed is a tremendous energy increase caused by hydrogen bond breakage to Asn62. Shifts in the side chain and new hydrogen bond formation are observed for Lys54 compared to the wild-type protein (Asn54) and result in closer contact to Val84. Asp50Asn causes a significant decrease in bond energy, and residual charge reversal repels the ion and metabolites and, hence, inhibits their transportation. Such perturbations are likely to be a factor contributing to abnormal functioning of ion channels, resulting cell death and disease.

A Case of Pachydermodactyly / 대한류마티스학회지

Pachydermodactyly is a kind of benign fibromatosis in which asymptomatic symmetrical soft tissue swellings occur on the proximal phalanges and the proximal interphalangeal joints of the hands. Although young women can also be affected, the young men are affected most commonly. There is no bony or articular abnormality on radiographic study. Histological examination of skin demonstrated epidermal hyperplasia, hyperkeratosis, acanthosis and thickened reticular dermis by deposition of collagen. It is important to recognize this disease identity without misdiagnosis for other rheumatologic diseases to avoid inappropriate and possibly toxic treatments. We report a case of pachydermodactyly and discuss the differential diagnosis.

A Case of a Family with Knuckle Pads, Deafness and Palmoplantar Hyperkeratosis / 대한피부과학회지

The syndrome with knuckle pads, leukonychia, deafness and palmoplantar hyperkeratosis have been presented by several previous reports since the Bart and Pumphrey's report. This syndrome is that inheritance pattern is autosomal dominant trait. We report a case of a family with hereditary progressive palmoplantar hyperkeratosis, which is invariably associated with knuckle pads and a progressive mixed hearing loss. We think that these traits may not be inherited as an autosomal dominant trait because affected members of the family are all female but may be possibly autosomal dominant. The difference with other previous reports is that all members of the family don't have leukonychia. Therefore, we suggest that this is another variant case of this syndrome.