In the early 1980s I discovered a new type of hereditary skin disease of the hands and feet associated with ichthyosis of the body. I called it a variant of Vohwinkel syndrome which was first reported in the 1920s. Later, scientists showed that the disease I described was caused by a deficiency of an important skin protein called Loricrin. They called it Camisa Disease. Last week, we got a call from a mom who tracked me down because her son has been diagnosed with it. I recommended that she consult the Mayo Clinic genetics and dermatology departments because the family lives closer to it.
Posted on: Sat, 26 Apr 2014 00:57:48 +0000
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