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ReserarchID
Q0HM9
Crossref Journal DOI 10.17406/gjmra
Print ISSN 0975-5888
e-ISSN 2249-4618
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Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis. It is of four types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II. A 2 yr old male child presented in our OPD with hypertrophy of nails, hyperkeratotic papules over body, lusterless and sparse hair and natal teeth since childhood. Microscopy nail clippings and scrapping were done to rule out fungal infection. No evidence of any associated malignancy was found after thorough workup. He was diagnosed as PC Type 2. This case is being reported because of its rarity.
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