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Pachyonychia congenita tarda
N Mouaci-Midoun1, S Cambiaghi, P Abimelec
1Service de Dermatologie, Hôpital Saint-Louis, Paris, France.
Journal of the American Academy of Dermatology
|August 1, 1996
Summary
Pachyonychia congenita tarda is a rare genetic disorder with late-onset manifestations. This case report details a patient whose symptoms appeared at age 39, supporting the existence of this late-onset subtype.
Area of Science:
- Genetics
- Dermatology
- Rare Diseases
Background:
- Pachyonychia congenita (PC) is a rare autosomal dominant disorder.
- PC is characterized by nail dystrophy, palmoplantar keratoderma, and oral leukokeratosis.
- PC is classified into distinct clinical subtypes.
Observation:
- A case of pachyonychia congenita tarda is presented.
- The patient exhibited typical PC manifestations at 39 years of age.
- This represents a late-onset presentation of the disorder.
Findings:
- The patient's late-onset presentation aligns with previously described cases of pachyonychia congenita tarda.
- This report reinforces the recognition of late-onset pachyonychia congenita as a distinct clinical entity.
- The findings contribute to understanding the phenotypic variability of pachyonychia congenita.
Implications:
- Further research into the genetic and molecular basis of late-onset PC is warranted.
- Recognition of pachyonychia congenita tarda can aid in accurate diagnosis and patient management.
- Understanding late-onset presentations expands the clinical spectrum of rare genetic disorders.