Q84.4

Clinical Causes: Genetic mutations inherited from parents Associated with other genetic syndromes or conditions such as naevus depigmentosus or certain syndromes affecting skin and nails Developmental anomalies during fetal nail formation Familial cases where multiple members in a family are affected

Key Symptoms: White discoloration of fingernails and toenails present at birth Nails are typically uniform in color and do not change over time May be associated with a lack of other skin abnormalities, or may appear with other systemic features in syndromic cases No pain, redness, or discomfort associated with the nails themselves Nails are generally intact with no signs of damage or infection

Diagnosis Path: Diagnosis primarily involves clinical examination, where the characteristic whiteness of the nails is observed from birth. A detailed medical history, including family history and any associated syndromic features, may be collected. In some cases, additional diagnostic tests such as genetic testing or skin biopsies are performed to exclude other nail disorders or syndromes. Imaging is rarely required. Differential diagnosis includes other causes of nail whitening such as trauma, fungal infections, or acquired leukonychia, which typically occur later in life and may have different features.

Treatment Protocols: Congenital leukonychia generally does not require treatment since it is a benign condition. Education and reassurance are important for affected individuals and their families. Regular monitoring may be recommended to observe any changes over time. In cases where leukonychia appears to be part of a larger syndrome or is associated with other health concerns, management may involve addressing the underlying condition. Cosmetic options are available for those who wish to improve nail appearance, though these are optional and typically not necessary.