Congenital hypotrichosis with juvenile macular dystrophy

Definition:

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.

References:

[1]. E Souied, et al. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. Ophthalmic Genet. 1995 Mar;16(1):11-5. [Content Brief]

[2]. M Indelman, et al. Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. Br J Dermatol. 2005 Sep;153(3):635-8. [Content Brief]

[3]. Margarita Indelman, et al. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol. 2002 Nov;119(5):1210-3. [Content Brief]

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