Pachyonychia congenita: a case report

Area of Science:

• Dermatology
• Genetics
• Molecular Biology

Background:

• Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis.
• It is characterized by nail dystrophy, palmoplantar hyperkeratosis, and oral leukokeratosis.
• Mutations in keratin genes (KRT6A, KRT6B, KRT16, KRT17) are known causes.

Observation:

• A 21-year-old male presented with widespread nail dystrophy and subungual debris.
• He also had hyperkeratotic plaques on both heels and oral leukokeratosis.
• A significant family history of similar symptoms was reported.

Findings:

• The patient's clinical presentation and family history were consistent with pachyonychia congenita.
• This diagnosis implicates mutations in keratin 6 (K6a, K6b), keratin 16 (K16), or keratin 17 (K17) genes.
• The condition follows an autosomal dominant inheritance pattern.

Implications:

• Understanding the genetic basis of PC is crucial for diagnosis and genetic counseling.
• Identifying specific keratin gene mutations can aid in prognosis and potential therapeutic strategies.
• This case underscores the importance of family history in diagnosing genodermatoses.