Pachyonychia congenita: A case report

Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It is usually present at birth or develops within 1 year of birth. It is classified into four types, but type-1 (Jadassohn-Lewandowsky type) and type-2 (Jackson-Lawler type) are the most common. PC is characterized...

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Bibliographic Details
Published in:Journal of Indian Academy of Oral Medicine and Radiology 2019-04, Vol.31 (2), p.184-187
Main Authors: Ramachandran, Silpa, Lakshmi, Suman, Somasundaram, Elangovan, Balasubramanian, Senthil
Format: Article
Language:English
Subjects:
Autosomal dominant
Biopsy
Birth
Case reports
Genes
Hereditary diseases
Keratin
Keratinization
Keratosis
Leukokeratosis
Mutation
Nails (Anatomy)
pachyonychia congenita
Patients
Skin
subungual hyperkeratosis
Teeth
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Summary:Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It is usually present at birth or develops within 1 year of birth. It is classified into four types, but type-1 (Jadassohn-Lewandowsky type) and type-2 (Jackson-Lawler type) are the most common. PC is characterized by dystrophic, thickened nails, and painful palmo-plantar keratoderma. The nails are dramatically affected in most patients, but oral lesions are seen in patients affected by the Jadassohn-Lewandowsky type. In literature, fewer than 500 cases have been reported about PC. We report a case of PC in an 18-year-old male patient who presented with subungual hyperkeratosis, palmar-plantar keratosis, and leukokeratosis.
ISSN:0972-1363
0975-1572
DOI:10.4103/jiaomr.jiaomr_23_19