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・生後1カ月より観察しえた先天性厚硬爪甲症(pachyonychia congenita:PC)を経験した.
・初診時,爪甲肥厚は明らかではなく,爪の緑褐色調変化のみであった.
・父親にも先天性厚硬爪甲症があり,遺伝子検査にてKRT6A変異が認められた.
(「症例のポイント」より)
A case of pachyonychia congenita could observed from neonatal period
Yagasaki, Akiko1) 1)Yagasaki Dermatology Clinic
A 1-month-old female congenitally had green-brown nails in almost all fingers and toes and her nails gradually became thick and turbid from the tips with growth. She did not show any other abnormalities in her hair, tooth, and oral cavity. Her father also had thick nails in all fingers and toes, accompanying with numerous cysts in his face and trunk, plantar keratoderma, and oral leukokeratosis. We conducted genetic test and detected KRT6A mutation. Pachyonychia congenita (PC)is a rare autosomal dominant disease and abnormalities are limited in the nails and skin. Hence, dermatologist should know the early symptoms of PC to diagnose it correctly.
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