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CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 3  |  Page : 191-193

Pachyonychia congenita affecting nails only: A sporadic case or novel mutation of an uncommon genodermatoses


Department of Dermatology, Rajarajeswari Medical College and Hospital, Bengaluru, Karnataka, India

Correspondence Address:
Yadalla Hari Kishan Kumar
Skin Care Clinic, 70, Padma Nivasa, 3rd Cross MG Extension, HV Halli, Rajarajeswari Nagar, Bengaluru - 560 098, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijhas.IJHAS_158_16

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Pachyonychia congenita (PC) is a rare genodermatoses transmitted by autosomal dominant inheritance characterized by hypertrophic nail changes and nail dystrophy, also associated with the oral mucosa, skin, hair, and teeth involvement. A 26-year-old female presented with disfigured nails of both hands and feet involving all 20 digits since birth. She gave complaints of occasional painful swelling and shedding of nails. The nails were discolored and thickened with overcurvature and subungual hyperkeratosis giving a characteristic wedge-shaped appearance. Palms, soles, and mucous membrane examination were normal. There were no other ectodermal abnormalities, and systemic examination was normal. Potassium hydroxide examination of the nail clippings did not reveal any fungi. The presence of characteristic clinical features led to a diagnosis of forme fruste of PC.


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