Synonym(s): - Keratosis palmoplantaris - periodontopathia - onychogryposis - Palmoplantar hyperkeratosis - periodontopathia - onychogryposis - Palmoplantar keratoderma - periodontopathia - onychogryposis
Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537627
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CTSC	P53634	602365

- Alveolysis / paraodontitis
- Autosomal recessive inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Flat foot
- Long hand / arachnodactyly
- Osteolysis / osteoclasia / bone destruction / erosions
- Palmoplantar hyperkeratosis / keratoderma
- Thick skin / pachydermia / orange skin
- Thickened / hypertrophic / fibromatous gingivae

- Chronic skin infection / ulcerations / ulcers / cancrum
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Terminal / third phalangeal bone of fingers broadened / deviated

- Anomalies of spine, vertebrae and pelvis
- Arthritis / synovitis / synovial proliferation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness