Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C1832588 (
PSS
)
2,979
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The CREST syndrome variant of scleroderma was discovered in a 48 year old woman whose mother, age 70, also had CREST syndrome characterized by extensive skin involvement. HLA typing of the two patients, as well as the two asymptomatic daughters of the proband, revealed the
A11
-Bw22 haplotype. Review of the family relationships revealed two first cousin marriages. This is the fifth case report of vertical transmission of
PSS
or its variants, and the first report of this HLA type in such patients. An unusual feature of the illness in the mother was a large perforation of the nasal septum of the type usually associated with Wegener's disease.
...
PMID:The CREST syndrome variant of scleroderma in a mother-daughter pair. 74 55
