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Hereditary hypotrichosis (Marie‐Unna type) and juvenile macular degeneration (Stargardt's maculopathy)
Author(s) -
MARREN P.,
WILSON C.,
DAWBER R.P.R.,
WALSHE M.M.
Publication year - 1992
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.1992.tb00203.x
Subject(s) - maculopathy , hypotrichosis , medicine , macular dystrophy , dermatology , macular degeneration , genetics , ophthalmology , biology , retinopathy , endocrinology , gene , diabetes mellitus
Summary Hypotrichosis of the Marie‐Unna variety is a distinctive syndrome eponymously named following a publication in 1925 describing a family in which 27 individuals in seven generations were affected by a previously unreported type of hypotrichosis. Its inheritance is determined by an autosomal dominant gene and it usually occurs as an isolated abnormality. Hereditary macular degeneration (Stargardt's maculopathy) is also well recognized and has been reported in one family in association with alopecia areata but never in association with Marie‐Unna hypotrichosis. Inheritance of Stargardt's maculopathy is autosomal recessive. Our patient demonstrates the co‐existence of these two uncommon genetic disorders and it would appear that both defects have been independently inherited.