New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C

British Journal of Dermatology

Volumn 147, Issue 3, 2002, Pages 575-581

  Van Steensel, M A M ^a   Van Geel, M ^a   Steijlen, P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Acro osteolysis; Cathepsin C; Haim Munk syndrome; Hyperkeratosis; Onychogryphosis; Periodontitis

Indexed keywords

ACENOCOUMAROL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL PEPTIDASE I; METHOTREXATE; MUTANT PROTEIN;

ACROOSTEOLYSIS; ADOLESCENT; ADULT; ALLELE; ALOPECIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; KERATOSIS PALMOPLANTARIS; MOTHER; PERIODONTITIS; PRIORITY JOURNAL; PSORIATIC ARTHRITIS; SKIN DEFECT; TREATMENT OUTCOME; X IRRADIATION;

ADOLESCENT; DIPEPTIDYL PEPTIDASE I; FEMALE; HUMANS; HYPOTRICHOSIS; KERATODERMA, PALMOPLANTAR; MIDDLE AGED; MUTATION; OSTEOLYSIS, ESSENTIAL; PEDIGREE; PERIODONTITIS; SKIN DISEASES, GENETIC; SYNDROME;

EID: 0036042555     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2002.04840.x     Document Type: Article

References (13)

1. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
2. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome
3. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
4. A syndrome of keratosis palmoplantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis
5. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
6. Familial study of fissured tongue
7. Melkersson-Rosenthal syndrome
8. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
9. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
10. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
11. Consed: A graphical tool for sequence finishing
12. Base-calling of automated sequencer traces using phred. II. Error probabilities
13. Base-calling of automated sequencer traces using phred. I. Accuracy assessment