What?Pachyonychia Congenita (PC) is an ultra-rare genetic autosomal dominant skin disorder affecting keratin filliments (Found in hair, skin and nails). With PC, the filaments do not form properly, causing extreme cell fragility.

 

Who? PC can affect anyone.   

 

When? Because PC is a genetic disorder, PC patients are born with the disorder and will have it for the rest of their lives. 

 

Where? PC is found aywhere on the globe. 

 

Why? PC is caused by a mutation in one of five keratin genes including K6a, K6b, K6c, K16, or K17.    

 

Symptoms/Characteristics:Pain is one of the distinct characteristics of PC. Some common characteristics include thickened nails, painful calluses and blisters on the soles of the feet and or the palms of the hands, cysts of various types. Less common characteristics include sores at the corner of the mouth, teeth at or before birth, Laryngeal involvement with a white keratin film on the larynx (This results in a hoarse cry or a hoarse voice and is found in only a few patients.) and intense pain on first bite (The pain is near the jaw or ears and lasts 15–25 seconds when beginning to eat or swallow. This is more common in younger children and is often confused with ear problems.)

 

Treatments: PC patients treat their condition by treating and maintaining the affected areas on the skin and nails including soaking the skin, trimming nails and using moisturizers. Other therapies may include Keratolytic Therapy, a treatment used for conditions such as dermatitis, psoriasis, eczema, corns, and calluses to help loosen and shed hard, scaly skin, Salicylic acid, also known as 2-hydroxybenzoic acid, one of several beta hydroxy acids, is a key ingredient in many skin-care products for the treatment of acne, psoriasis, calluses, corns, keratosis pilaris, and warts, Urea is an emollient (skin softening agent) which helps to moisturize the skin and is used in topical dermatological products to promote rehydration of the skin and even surgical removal of nails.