Hyperpigmentation

Mutation

Gene

Psoriasis

Biology

Internal medicine

Pityriasis rubra pilaris

Genetics

Medicine

Dermatology

JAMA Dermatology

We found CARD14 mutations (2 de novo novel mutations and another previously reported mutation) in 3 of 3 patients with pityriasis rubra pilaris (PRP) type V, but not in patients with PRP of other types. Our findings, combined with the published literature, suggest that type V PRP, both familial and sporadic, can be caused by CARD14 mutations. Detailed clinical observation revealed that all 3 patients displayed unique patchy macular brown hyperpigmentation.To further determine how often patients with PRP have pathogenic mutations in CARD14 and to elucidate which clinical subtype of PRP is caused by CARD14 mutations.We sequenced the entire coding regions of CARD14 in genomic DNA from patients with 5 clinical subtypes of PRP. The detailed clinical features were analyzed in all the patients. The pathogenicity of each mutation was evaluated by several computational predictions. PRP was classified into 6 subgroups, types I to VI, based on clinical criteria. We categorized all the patients with PRP into the clinical...

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by <i>CARD14</i> Mutations

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations