Cutaneous mosaicism
نویسندگان
چکیده
منابع مشابه
Cutaneous mosaicism: right before our eyes.
Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in ...
متن کاملPiecing together the puzzle of cutaneous mosaicism.
Autosomal dominant disorders of the skin may present in a pattern following the lines of embryologic development of the ectoderm. In these cases, the surrounding skin is normal, and molecular studies have shown that the causative mutation is confined to the affected ectodermal tissue (type 1 mosaicism). Rarely, an individual shows skin lesions that follow the pattern of type 1 mosaicism, but th...
متن کاملGraft-versus-host disease presenting along Blaschko lines: cutaneous mosaicism.
To the Editor: Graft-versus-host disease (GVHD) is a common and serious complication seen most often with bone marrow transplantation and peripheral blood stem cell transplantation. With these therapies, functional lymphoid cells are transferred from an immunocompetent donor into a nongenetically identical recipient, or “host.” Because of the allogeneic nature of these transplants, the transpla...
متن کاملSomatic mosaicism of CIAS1/NLRP3 gene in two patients with chronic infantile neurologic, cutaneous, articular syndrome
Introduction CINCA syndrome (chronic, infantile, neurological, cutaneous, articular syndrome) also known as neonatal-onset multisystem inflammatory disease (NOMID) represents the most severe form of cryopyrin-associated periodic syndrome ( CAPS). This condition was found to be associated with missense mutations in the CIAS1/NALP3/ PYPAF gene, which encodes cryopyrin. Cryopyrin is a member of th...
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
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ژورنال
عنوان ژورنال: QJM
سال: 1996
ISSN: 1460-2725,1460-2393
DOI: 10.1093/qjmed/89.7.489