Synonym(s): - Keratosis palmoplantar - periodontopathy - PLS
Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare odontologic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: D010214
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CTSC	P53634	602365

- Alveolysis / paraodontitis
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Dysplastic / thick / grooved fingernails
- Gingivitis
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Premature lost of decidious teeth
- Pustula / pustulosis

- Chronic skin infection / ulcerations / ulcers / cancrum
- Intracranial / cerebral calcifications
- Nails anomalies
- Repeat respiratory infections
- Thin / hypoplastic / hyperconvex fingernails

- Anomalies of spine, vertebrae and pelvis
- Decreased body hair / axillar / pubic hairlessness
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hirsutism / hypertrichosis / Increased body hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Irregular / patchy skin hypopigmentation
- Liver / hepatic abscess
- Long hand / arachnodactyly
- Melanoma
- Osteolysis / osteoclasia / bone destruction / erosions
- Skin tumors / lumps / epidermal cysts