Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...

Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition characterized by cutaneous manifestation mainly hyperkeratosis skin and mucosae hypertrophy nails. In this condition, almost 50% the patients will have oral leukokeratosis. The case report here 15 years old girl, presented with dystrophic, thickened fingernails toenails subun...

We would like to emphasize the importance of genetic testing to confirm a clinical diagnosis, draw your attention to the revised classification of pachyonychia congenita (PC) and provide further information regarding this rare skin disorder. Historically, PC was subdivided, with the two major clinical forms being PC-1 and PC-2. With an improvement in the understanding of the disease based on de...

PC is commonly described as a rare genodermatosis characteristically manifesting as massive subungual hyperkeratosis with nail thickening, focal palmoplantar keratoderma alongwith deep f issur ing and blistering, oral leukokeratosis and discrete follicular hyperkeratosis [1,2]. Other features including abnormalities of teeth, hairs and larynx can also be seen depending on the clinical types. On...

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we...

Dear Editor, A 10-year-old boy presented with progressive thickening of the nails over the previous 5 years. He did not have any other cutaneous and/or systemic symptoms. He was born to healthy non-consanguineous parents following an uneventful pregnancy. Upon examination, he was found to have symmetrical involvement of the finger and toenails with marked hard thickening of the distal portion o...