A REVIEW: “SKIN-RELATED RARE DISEASES: PACHYONYCHIA CONGENITAL”Abstract
Keratin is a structural protein from the intermediate filament network, i.e., responsible for maintaining the keratinocyte’s structural integrity. Pachyonychia congenita is not a lifetime disease. It is a rare dermatosis disease occurred in the sole’s feet and palm’s hand. In this review, we have discussed the keratinization that occurs in the stratum corneum that follows mutation in the keratin gene “rare disease” pachyonychia congenital an autosomal dominant disorder or hereditary syndrome by any one of a missense mutation in keratin genes such as KRT6A, KRT6B, KRT16 and KRT17. This disease shows hypertrophic dystrophy in toenails and fingernails, plantar keratoderma, oral leukokeratosis, cysts, and follicular hyperkeratosis in the hair follicles. This review aims to specify the beneficial surgical treatment for the pachyonychia congenita. There is limited treatment for this disease, only for the clinical manifestations. In the future perspective, pachyonychia congenita may be treated with C2H4O3 lotions/creams and Keratolytics creams available in the marketed preparation.
Payal Saxena *, Himani Devi and Abhishek Panchwal
School of Pharmacy and Research, Devbhoomi Uttarakhand University, Manduwala, Dehradun, Uttarakhand, India.
23 May 2022
07 July 2022
01 August 2022
01 February 2023