Ontology highlight
ABSTRACT:
SUBMITTER: Oosterwijk JC
PROVIDER: S-EPMC1682639 | biostudies-other | 1992 Apr
REPOSITORIES: biostudies-other
Oosterwijk J C JC Nelen M M van Zandvoort P M PM van Osch L D LD Oranje A P AP Wittebol-Post D D van Oost B A BA
American journal of human genetics 19920401 4
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. It consists of follicular hyperkeratosis of the skin, scarring alopecia of the scalp, absence of the eyebrows, and corneal degeneration. There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. In a large Dutch pedigree we performed DNA analysis in order to localize the KFSD gene. In 54 individuals, includin ...[more]