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Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
- Source :
- Journal of the American Academy of Dermatology. 58:339-344
- Publication Year :
- 2008
- Publisher :
- Elsevier BV, 2008.
-
Abstract
- Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, Papillon-Lefèvre syndrome and prepubertal periodontitis.
- Subjects :
- Adult
Male
medicine.medical_specialty
Pathology
Adolescent
Haim–Munk syndrome
Hyperkeratosis
Dermatology
Papillon–Lefèvre syndrome
Cathepsin C
Consanguinity
Arachnodactyly
Papillon-Lefevre Disease
Keratoderma, Palmoplantar
medicine
Humans
Onychogryphosis
Periodontal Diseases
Bone Diseases, Developmental
business.industry
Syndrome
medicine.disease
Dyskeratosis
Palmoplantar keratoderma
Female
business
Subjects
Details
- ISSN :
- 01909622
- Volume :
- 58
- Database :
- OpenAIRE
- Journal :
- Journal of the American Academy of Dermatology
- Accession number :
- edsair.doi.dedup.....e34e0bf6a8b1001f722bd5c8a686de42