Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: A new genetic syndrome in 3 sibs

Abstract

We describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body hair, and distinct facial appearance in 3 sibs whose parents are first cousins. The condition is considered an autosomal recessive trait. The pathogenesis of this neurocutaneous disorder is unknown.

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

“…Individual families with lentigines and other defects have also been reported (79,80); however, it is uncertain whether these conditions represent distinct clinical syndromes, because they have not been reported in other patients. One such example is that of a French Canadian family with mutliple lentigines and CALS associated with hiatal hernia and gastric ulcer, hypertelorism and myopia (79) The disease was inherited in an autosomal dominant manner and had a variable expression (79).…”

“…One such example is that of a French Canadian family with mutliple lentigines and CALS associated with hiatal hernia and gastric ulcer, hypertelorism and myopia (79) The disease was inherited in an autosomal dominant manner and had a variable expression (79). Another proposed syndrome, inherited in an autosomal recessive manner, is that reported in three siblings with lentigines and vitiligo, multiple other pigmented spots and premature graying associated with hypertelorism and other facial features and progressive spastic paraparesis (80).…”

Genetics of Carney Complex and Related Familial Lentiginoses, and Other Multiple Tumor Syndromes

“…Individual families with lentigines and other defects have also been reported [79,80 ] ; however, it is uncertain whether these conditions represent distinct clinical syndromes, because they have not been reported in other patients. One such example is that of a French Canadian family with multiple lentigines and CALS associated with hiatal hernia and gastric ulcer, hypertelorism and myopia [79 ].…”

“…The disease was inherited in an autosomal dominant manner and had a variable expression [79 ]. Another proposed syndrome, inherited in an autosomal recessive manner, is that reported in three siblings with lentigines and vitiligo, multiple other pigmented spots and premature graying associated with hypertelorism and other facial features and progressive spastic paraparesis [80 ].…”

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

“…Three siblings in a Jordanian family had diffuse skin and hair depigmentation at birth, with patchy pigmentation appearing after the age of 6 months. A progressive spastic paraplegia developed by the age of 6 years 6, 7. A second family, of Arab Israeli origin, with spastic paraparesis, hypopigmentation, microcephaly, and cognitive impairment was described in 1985 8.…”