Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene

Area of Science:

• Genetics
• Dermatology
• Rare Diseases

Background:

• Pachyonychia congenita (PC) is a rare autosomal dominant disorder affecting keratin production.
• Identifying clinical manifestations and genetic inheritance patterns is crucial for diagnosis and management.
• PC is primarily caused by mutations in keratin genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17.

Observation:

• A 12-month-old boy presented with a "white hairy tongue," a distinctive clinical sign.
• The patient's father displayed similar symptoms, suggesting a hereditary component.
• Clinical evaluation and subsequent genetic testing were performed.

Findings:

• The patient and his father were diagnosed with pachyonychia congenita.
• Genetic analysis identified a novel pathogenic variant in the KRT16 gene (c.616T>G) in both individuals.
• This finding expands the known spectrum of KRT16 mutations associated with PC.

Implications:

• This case expands the understanding of KRT16's role in PC pathogenesis.
• Recognizing diverse clinical presentations is vital for early diagnosis of PC.
• Documentation of novel variants contributes to the genetic database for rare keratin disorders.