Pachyonychia congenita 4
Summary
Excerpted from the GeneReview:Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Frances JD Smith
- C David Hansen
- Peter R Hull
- view full author information
Available tests
10 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (10 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of limbs
- Palmoplantar keratoderma
Palmoplantar keratoderma
- MedGen UID: 1635750
- Concept ID: C4551675
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmoplantar keratoderma
- Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dystrophy
- Neoplasm
- Steatocystoma multiplex
Steatocystoma multiplex
- MedGen UID: 75476
- Concept ID: C0259771
- Finding: Neoplastic Process
Neoplasm
- Steatocystoma multiplex
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