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A Rare Case of Pachyonychia Congenita in Mother and Daughter
oleh: Mayuri Deshpande, Amol Deshpande
Format: | Article |
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Diterbitkan: | JCDR Research and Publications Private Limited 2024-06-01 |
Deskripsi
Pachyonychia Congenita (PC) is a rare genetic disorder characterised by excessive keratinisation of the skin, nails, and mucous membranes, leading to thickened nail beds and skin on pressure points, notably on the soles of the feet. A 10-year-old girl came to the Outpatient Department (OPD) with her 38-year-old mother. Both of them had same complaints regarding their nails and callous formation over soles. They both had thickened nail plates with thickened pressure points on sole [Table/Fig-1a-c,2a-c]. In PC, oral manifestations are found but on the day of visit they didn’t have any lesion in mouth. Both of them had difficulty and pricking sensation during walking. Both of them had anorexia due to the heinous presentation of the nails. They had taken lots of medicines for the conditions of nails but of no use. Other family members were not affected. Dyskeratosis congenita, pterygium inversum unguis, and onycholysis can be differential diagnosis. The final diagnosis is PC type I. In [Table/Fig-1a-c,2a,b], onychodystrophy can be seen clearly. In [Table/Fig-2c], plantar keratoderma can be seen, which are the cardinal features for the diagnosis of PC.