Differential Diagnosis of Multiple Cafe au Lait Macules in a Newly Born Infant

Single Most Likely Diagnosis

• Neurofibromatosis Type 1 (NF1): This is the most common condition associated with multiple cafe au lait macules. NF1 is an autosomal dominant genetic disorder that can present with multiple cafe au lait spots, which are often one of the earliest signs of the disease.

Other Likely Diagnoses

• McCune-Albright Syndrome: Characterized by the presence of cafe au lait macules, polyostotic fibrous dysplasia, and various endocrine disorders. The skin lesions in McCune-Albright Syndrome often have a distinctive "coast of Maine" irregular border.
• Fanconi Anemia: A rare genetic disorder that can present with cafe au lait spots among other physical abnormalities and an increased risk of malignancies, particularly leukemia.
• Noonan Syndrome: An autosomal dominant disorder that can feature cafe au lait macules, along with other physical characteristics and an increased risk of certain heart defects.

Do Not Miss Diagnoses

• Maffucci Syndrome: A rare condition characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas, which can be life-threatening due to the risk of malignant transformation.
• LEOPARD Syndrome: An autosomal dominant disorder with multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitals, retardation of growth, and sensorineural deafness. Cafe au lait macules can be part of the presentation.

Rare Diagnoses

• Ataxia-Telangiectasia: A rare, inherited disorder affecting the nervous system, immune system, and other bodily systems, characterized by ataxia, telangiectasias, and an increased risk of cancer. Cafe au lait spots can be an early sign.
• Bloom Syndrome: A rare autosomal recessive disorder characterized by short stature, a long narrow face, small lower jaw, large nose, and cafe au lait spots, with an increased risk of various cancers.
• Silver-Russell Syndrome: A growth disorder characterized by a triangular face, fifth finger clinodactyly, and cafe au lait spots, among other features.

Each of these diagnoses has distinct features beyond cafe au lait macules, and a thorough clinical evaluation, including genetic testing and other diagnostic tools, is necessary to establish a definitive diagnosis.