In the past three decades there have been major efforts and successes in defining the molecular basis of inherited diseases.1 Dermatologic researchers have partaken in these efforts, and diseases with major skin manifestations such as acrodermatitis enteropathica, albinism, alkaptonuria, Fabry's disease, hereditary angioedema, Menkes' disease, phenylketonuria, xeroderma pigmentosum, and X-linked ichthyosis have been associated with molecular defects. In addition, some of the forms of Ehlers-Danlos syndrome and the mucopolysaccharide storage disorders have also been associated with inborn errors of metabolism.
HISTORICAL ASPECTS OF THE RICHNER-HANHART SYNDROME
Our studies on the Rankin Research Ward at Duke University Medical Center (Durham, NC) allowed us to define and understand the molecular basis of a rare genetic disorder involving the skin and eye, the Richner-Hanhart syndrome (tyrosinemia II). Richner, a Swiss ophthalmologist, and Hanhart, a Swiss geneticist, described a syndrome in the late 1930s and mid 1940s that was associated with autosomal recessive
Goldsmith LA. Tyrosinemia II: A Large North Carolina Kindred. Arch Intern Med. 1985;145(9):1697–1700. doi:https://doi.org/10.1001/archinte.1985.00360090173026
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