Now a team led by UC Davis researchers has identified dozens of these genetic mutations in a screen of gene-targeted "knockout" mice. The authors hope the work, published Aug.
9 uncommon skin conditions - Photo 1 - Pictures - CBS News
Skin, eyes and nerve tissue are linked because they all develop from the same early embryonic tissue. Another group of rare eye and skin disorders distinct from albinism, called phakomatoses, are also caused by genetic alterations inherited from parents or that occur by accident early in embryo development.
Albino people and animals lack pigment in their hair, skin and eyes. The degree of pigment loss varies, depending probably on the genetic change responsible. Some albinos are entirely lacking in pigment; at the other end of the scale, some people with "blonde" coloration may have a mild form of albinism. There are known genes linked to albinism in humans, but not all cases have a clear genetic cause. Then they cross-checked for those which also had eye defects.
What are the most common genetic skin conditions?
That produced a list of 52 genes affecting both skin and eye organ systems, 35 of which were previously unknown. Chapters are well organized by a combination of morphologic and pathophysiologic headings. Each chapter begins with a defining summary of the chapter contents, and many of the chapters have tables that summarize the diagnoses by inheritance and clinical features. Diagnoses are consistently outlined.
Papier A. Handbook of Genetic Skin Disorders.
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This Issue. Arthur Papier, MD.
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Dermatology – Genetic Skin Disorders
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