Hypotrichosis with juvenile macular dystrophy

Hypotrichosis with juvenile macular dystrophy is an extremely rare congenital disease characterized by sparse hair growth from birth and progressive macular dystrophy of the eye. The hair on the head is noticeably less full than normal and very weak, while hair elsewhere on the body is normal. Macular degeneration develops slowly, with deterioration of central vision and eventual loss of reading ability, although affected people can otherwise develop in a healthy way and life expectancy is normal. It is an autosomal recessive hereditary disease caused by a combination of mutations in the CDH3 gene, which codes for Cadherin-3, a calcium-binding protein responsible for cellular adhesion in various tissues. Confirming the diagnosis requires molecular genetic testing, and no treatment is currently available. The disease was first described in 1935 by the German physician Hans Wagner, and only fifty to a hundred cases have been described.