A novel mutation in a CARD14-associated papulosquamous eruption

Area of Science:

• Dermatology
• Genetics
• Molecular Biology

Background:

• CARD14-associated papulosquamous eruption (CAPE) is a skin condition spectrum.
• CAPE shares features with psoriasis and pityriasis rubra pilaris (PRP).
• Activating mutations in the CARD14 gene are linked to CAPE.

Observation:

• A family presented with clinical features of CAPE.
• A novel mutation in the CARD14 gene was identified in this family.
• Ectropion was observed as part of the clinical presentation.

Findings:

• The study identified a novel CARD14 mutation in a family with CAPE.
• The findings expand the known phenotypic spectrum of CAPE.
• Ectropion is recognized as a potential feature of CAPE.

Implications:

• This research deepens the understanding of CARD14-associated genetic skin disorders.
• Identifying new mutations aids in diagnosing and managing CAPE.
• Recognizing ectropion broadens the diagnostic criteria for CAPE.