What are the manifestations of neurofibromatosis in infants?

Aug 20, 2025 Source: Cainiu Health

Dr. Zhou Xiaofeng

Introduction

The manifestations of neurofibromatosis in infants are diverse, commonly including skin café-au-lait spots, skin nodules, ocular iris hamartomas, skeletal developmental abnormalities, hearing loss, etc. In addition, infantile neurofibromatosis may also present with other symptoms such as learning difficulties and inattention. If the infant exhibits any of the above manifestations, it is recommended to seek timely medical evaluation and examination.

Neurofibromatosis in infants presents with various manifestations, commonly including café-au-lait spots, skin nodules, iris hamartomas of the eye, skeletal developmental abnormalities, and hearing loss. Detailed explanations are as follows:

1. Café-au-lait spots

Infants may develop light brown or dark brown patches on the skin, resembling the color of coffee mixed with milk. These spots typically appear at birth or shortly thereafter. They vary in size and shape, are often found on the trunk and limbs, and may gradually increase in number or size as the child grows older.

2. Skin nodules

Soft nodules may appear on the skin surface or beneath the skin. These nodules can occur singly or in clusters, are generally painless upon touch, and are commonly located on the trunk, face, and neck. They tend to slowly enlarge as the infant grows.

3. Iris hamartoma of the eye

Circular or oval light-colored spots may appear on the iris of the eye. These spots are caused by abnormal clusters of cells and typically do not affect the infant's vision, but they can be an important sign of neurofibromatosis.

4. Skeletal developmental abnormalities

Some infants may experience skeletal developmental issues, such as cranial asymmetry, scoliosis (curvature of the spine), or limbs of unequal length. This is because neurofibromatosis may affect normal bone growth and development, leading to structural abnormalities in the skeleton.

5. Hearing loss

A small number of infants may experience hearing loss. This occurs because neurofibromatosis may involve the auditory nerve, affecting the transmission of auditory signals, thereby reducing the infant's sensitivity to sound and resulting in hearing impairment.

In addition, other manifestations may also appear in infants with neurofibromatosis, such as learning difficulties and inattention. If any of the above symptoms are observed in an infant, it is recommended to seek timely medical evaluation for early diagnosis and appropriate intervention.

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