Ciranda-An Inclusive Floor Seating Positioning System and Social Enterprise.

One of the first challenges for many children with physical disabilities is to sit independently. A floor seating positioning system enables this milestone, helping a child to maintain eye level with other children, play and learn on the floor, rectify his or her posture, and, therefore, helps to include the child within his or her social spectrum. Ciranda is the first comprehensive floor seat solution in Brazil to attend to those needs. The project collected anthropometric data from 370 children who were unable to sit without support. A sample of 37 families of these children was visited, observed, and interviewed. A project requirement compiled key insights from the field data to support a multidisciplinary team of collaborators to co-design solutions. The project resulted in two floor seating positioning systems to attend to different needs. One is a social enterprise where the children's parents and the community build the seat while the child in need and his or her friends engage in entertainment. The other is a salable seat that helps to raise funds for the social enterprise. The model also unravels other challenges common to assistive technologies, such as access to a device and training for the use and maintenance of the device.

Is adermatoglyphia an additional feature of Kindler Syndrome?

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.

Sporadic Kindler syndrome with a novel mutation.

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Sporadic Kindler Syndrome with a novel mutation / Sindrome de Kindler esporadica com uma mutacao nao descrita previamente

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Nós relatamos uma paciente feminina de 28 anos com Síndrome de Kindler, uma forma rara de Epidermólise Bolhosa. Clinicamente, ela apresentava alterações cutâneas pigmentares disseminadas, fotossensibilidade e fragilidade da pele e das mucosas desde a infância. O envolvimento mucoso levou à estomatite erosiva e a estenoses esofágica, anal e vaginal, as quais necessitaram de intervenções cirúrgicas. O diagnóstico de Síndrome de Kindler foi confirmado por sequenciamento de DNA, que demonstrou heterozigose composta uma combinação de mutações uma nonsense e outra frameshift (p.Arg110X; p.Ala289GlyfsX7) no gene FERMT1.