Pachyonychia congenita, often abbreviated PC, is a rare group of inherited skin disorders that follow an autosomal dominant pattern. Each type is caused by a mutation in one of five different keratin genes, the genes that make the structural proteins of skin, nails and related tissues. The condition is often associated with thickened toenails, from which its name comes, with thickened skin on the soles of the feet known as plantar keratoderma, and with pain on the soles when walking or standing. Because it is a group of related disorders rather than a single uniform disease, the particular gene involved shapes how it presents in each family.
Facts
Classification
ICD-10 ChapterXII: Diseases of the Skin and Subcutaneous Tissue 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Pachyonychia congenita (Wikipedia)
Lead
is a rare group of autosomal dominant skin disorders
Lead [causative-agent-category]
caused by a mutation in one of five different keratin genes
lead sentence 1
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes.
Lead: disease category
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes.
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