Pachyonychia congenita (PC) is a rare genetic disorder affecting nails, skin, oral mucosae, larynx, hair and teeth. Patients with PC present with nail thickening and painful plantar keratoderma. Additional features include hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness or laryngeal involvement, coarse or twisted hair and abnormalities of the teeth 1. Current treatment focuses on symptom relief 2. Several experimental therapies (including siRNA, mTOR‐inhibition) have been developed but did not reach clinical use 3, 4. We herein report on the effective therapy of a 9‐year‐old female with PC due to a heterozygous KRT6A mutation. After failed efficacy of common available therapies, our patient was successfully treated with Rosuvastatin.
Successful treatment of Pachyonychia congenita with Rosuvastatin
Pachyonychia congenita (PC) is a rare genetic disorder affecting nails, skin, oral mucosae, larynx, hair and teeth. Patients with PC present with nail thickening and painful plantar keratoderma. Additional features include hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness or laryngeal involvement, coarse or twisted hair and abnormalities of the teeth 1. Current treatment focuses on symptom relief 2. Several experimental therapies (including siRNA, mTOR‐inhibition) have been developed but did not reach clinical use 3, 4. We herein report on the effective therapy of a 9‐year‐old female with PC due to a heterozygous KRT6A mutation. After failed efficacy of common available therapies, our patient was successfully treated with Rosuvastatin.


