Differential Diagnosis for Isolated Café au Lait Macules in a Newly Born Infant
Single Most Likely Diagnosis
- Benign congenital melanocytosis: This condition is characterized by the presence of café au lait macules at birth, which are benign and often fade with time. They are relatively common and usually do not indicate any underlying systemic condition.
Other Likely Diagnoses
- Neurofibromatosis type 1 (NF1): Although NF1 is a condition that can present with multiple café au lait macules, isolated cases can occur. The presence of other diagnostic criteria (e.g., axillary freckling, neurofibromas) would support this diagnosis.
- McCune-Albright syndrome: This syndrome includes café au lait macules as part of its clinical presentation, along with polyostotic fibrous dysplasia and various endocrine disorders. Isolated café au lait macules could be an early sign.
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. Early diagnosis is crucial.
- LEOPARD syndrome: A genetic disorder that can present with multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitals, retardation of growth, and sensorineural deafness. Café au lait macules can be part of the presentation.
Rare Diagnoses
- Ataxia-telangiectasia: A rare genetic disorder that affects the nervous system, immune system, and other bodily systems. It can present with café au lait macules, among other skin manifestations, and is associated with a high risk of cancer.
- Fanconi anemia: A rare genetic disorder characterized by congenital abnormalities, failure of production of all types of blood cells in the bone marrow (aplastic anemia), and a higher risk of cancer. Café au lait macules can be an early sign.