Pachyonychia congenita 1
- Synonyms
- Jadassohn Lewandowsky syndrome; KRT16-Related Pachyonychia Congenita; KRT6A-Related Pachyonychia Congenita; PACHYONYCHIA CONGENITA, LATE ONSET; Pachyonychia congenita Jadassohn Lewandowsky type
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
12 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (12 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Oral mucosa leukoplakia
Oral mucosa leukoplakia
- MedGen UID: 9738
- Concept ID: C0023532
- Finding: Neoplastic Process
Abnormality of head or neck
- Oral mucosa leukoplakia
- Abnormality of limbs
- Palmoplantar keratosis
Palmoplantar keratosis
- MedGen UID: 44017
- Concept ID: C0022596
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmoplantar keratosis
- Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Onychogryposis
Onychogryposis
- MedGen UID: 82671
- Concept ID: C0263537
- Finding: Disease or Syndrome
Abnormality of the integument
- Phrynoderma
Phrynoderma
- MedGen UID: 83101
- Concept ID: C0334013
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dystrophy
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