pachyonychia congenita 3

Pachyonychia congenita 3 is a condition that primarily affects the nails and skin, with prominent features involving abnormal nail structure and thickened skin on the palms and soles. It is caused by mutations in the KRT6A gene, which plays an important role in the structural integrity of epithelial tissues. The condition generally presents early in life and is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed for the condition to occur. Although precise prevalence estimates are not available, the manifestation of symptoms can vary greatly among affected individuals.

Individuals with pachyonychia congenita 3 typically present with characteristic nail abnormalities, including onychogryphosis of the toenails and nail dystrophy, which are consistently observed. Additional skin findings such as palmoplantar keratoderma, oral leukoplakia, and follicular hyperkeratosis occur in a subset of patients. These features can present at various stages, with the nail findings often serving as a hallmark sign that leads to further evaluation. Not all individuals experience every feature, and severity varies considerably from person to person.

Pachyonychia congenita 3 is caused by a mutation in the KRT6A gene. This gene is responsible for producing a protein that helps form the structural framework of skin cells, and any disruption in its function can lead to the nail and skin abnormalities seen in this condition. The disorder is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the variant on to each child. Despite having the same genetic alteration, individuals may exhibit differences in the type and severity of symptoms, reflecting the concept of variable expressivity.

Currently, management focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically for pachyonychia congenita 3. Treatment plans are individualized and typically involve a multidisciplinary team to address the nail and skin manifestations associated with the condition. Patients are encouraged to work closely with their healthcare team to explore options that can help alleviate discomfort and manage symptoms. Genetic counseling is also recommended to provide families with information about inheritance patterns and family planning.

The clinical course of pachyonychia congenita 3 is highly variable, with outcomes depending on the severity of symptoms and the individual’s response to supportive care. With current standards of care, many individuals are able to manage their symptoms well into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and families may notice differences in disease expression even among those with the same genetic mutation. For further guidance and support, connecting with a genetic counselor and specialized care centers can be very helpful.