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:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A new hair shaft defect, helical hair, is presented. This hair abnormality was found to accompany trichorrhexis invaginata and pili torti in an infant with
Netherton's syndrome
. The patient's main clinical features included erythroderma since birth, failure to thrive, recurrent infections,
hepatosplenomegaly
, lymphadenopathy, eosinophilia, hypergammaglobulinemia, and high serum IgE levels. A possible mechanism for the formation of helical hair is reviewed.
...
PMID:Helical hairs: a new hair anomaly in a patient with Netherton's syndrome. 764 86
