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Pachyonychia congenita affects QOL in pediatric, adolescent patients

Most pediatric patients with pachyonychia congenita exhibit symptoms before school age, allowing for early diagnoses that may later aid adolescents who experience psychosocial effects from the syndrome, a recent study determined.

Researchers analyzed results from two questionnaires distributed to families enrolled in the International Pachyonychia Congenita Research Registry. Two hundred fifty-four patients or their parents completed the first questionnaire that asked about the symptoms and features of their pachyonychia congenita (PC). Symptoms included nail dystrophy, palmoplantar keratoderma and follicular keratoses.

One hundred one patients who had genetically confirmed PC responded to the second survey from the Pachyonychia Congenita Project that addressed pediatric-specific issues, early symptoms and quality-of-life (QOL) issues.

Researcher Amy S. Paller, MD, department of dermatology, Northwestern University Feinberg School of Medicine, and colleagues reported that 47.5% of PC patients experienced toenail changes, 40.6% had fingernail changes and 6.9% reported plantar keratoderma at birth. By age 5 years, these abnormalities reached 81.2%, 74.2% and 75.3%, respectively Researchers said PC diagnoses were made in 26.7% of patients before 1 year of age, although toenail dystrophy was present in 65.3% of affected infants.

PC subtypes were distinguished by clinical differences in five keratin genes that included: later onset of nail dystrophy and keratoderma (KRT6B, KRT6C and KRT16), nail thickening (KRT6A and KRT17), greater palmar keratoderma (KRT16), cysts (KRT17), hoarseness (KRT6A) and natal teeth (KRT17).

Adolescent patients were affected most by the psychosocial effects of PC, particularly those with plantar keratoderma. QOL issues included limitations to playing sports, hesitance to wear certain clothes, being teased and embarrassment because of nails.

“The data in this registry database show that PC can be diagnosed during early childhood based on the constellation of clinical features and genotyping,” the researchers concluded. “Early diagnosis and discussion allow proactive management of psychosocial issues, including how a child can comfortably inform peers about the disorder or how a teenager can improve the appearance of nails and keratoderma, thus improving patient coping.”

Disclosure: Paller is a member of the International Pachyonychia Congenita Consortium without financial compensation.