نتایج جستجو برای: pachyonychia congenita
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287 Indian Dermatology Online Journal | Volume 8 | Issue 4 | July‐August 2017 Sir, We read with great interest the informative case report “Pachyonychia congenita with late onset (PC tarda)” by Sravanthi et al. in the July‐August 2016 issue of the Journal.[1] However, we would like to emphasize certain points regarding the history and current classification system of this rare disorder of kerat...
Pachyonychia congenita (PC) is a group of hereditary syndromes which have in common a hypertrophic dystrophy of the distal nail, and are associated with a variety of additional features, notably various dyskeratoses of skin and mucous membranes. The pathology is unknown but the array of clinical features suggests the possibility of a keratin abnormality. In the present report we describe linkag...
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC c...
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corres...
Background: Pachyonychia congenita (PC) is a rare keratinization disorder with around 1,000-10,000 cases reported worldwide. The mutation involves: KRT6A, KRT6B, KRTC6C, KRT16 or KRT17. Patients present severe plantar pain, palmoplantar keratoderma underlying blisters, and variable hypertrophic nail dystrophy [1]. Visual Analogue Scale (VAS) measures pain intensity. VAS consists of two endpoint...
Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder where the most painful, debilitating aspect is plantar keratoderma. PC is caused by mutations in one of four keratin genes; however, most patients carry K6a mutations. Knockout mouse studies suggest that ablation of one of the several K6 genes can be tolerated owing to compensatory expression of the others. Here, we have deve...
A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal tee...
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