“Coffee spots” may just be spots

Author: Miao Chaoyang Beijing Children's Hospital, Capital Medical University

Reviewer: Ma Lin, Chief Physician, Beijing Children's Hospital, Capital Medical University

Café au lait spots, as the name implies, are brown-colored patches (as shown in the following figure). They are brown/light brown macules and patches of varying sizes with clear boundaries. Since café au lait spots are often a skin manifestation of certain diseases, especially neurofibromatosis, the appearance of café au lait spots on children has also caused many parents to worry. Next, we will briefly discuss how to correctly view café au lait spots from a few questions, so as to avoid causing unnecessary worries to parents.

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1. Can healthy people develop coffee spots?

Healthy people can develop café-au-lait spots. Up to 15% of normal people will have 1 to 3 café-au-lait spots. Therefore, if small, single café-au-lait spots appear, or the number is less than 6, and there is no family history of neurofibromatosis, do not worry too much.

2. What kind of coffee stains require special attention?

Most coffee-coffee spots are just skin changes. When there are 6 or more coffee-coffee spots and they are large (larger than 5 mm in diameter before puberty or larger than 15 mm in diameter after puberty), you need to be alert to other diseases, including neurofibromatosis, endocrine and metabolic diseases. Neurofibromatosis type I (NF1) is the most common, and its hallmark features are coffee-coffee spots and neurofibromas. Here, you can get a general idea of ​​the diagnostic criteria for NF1, but a definitive diagnosis requires a visit to the hospital. The diagnosis of NF1 must meet at least two of the following: ① 6 or more coffee-house spots, with a diameter greater than 5 mm before puberty or a diameter greater than 15 mm after puberty; ② 2 or more neurofibromas of any type or 1 plexiform neurofibroma (requires professional physician judgment); ③ freckles in the axilla or inguinal area; ④ 2 or more Lisch nodules (iris hamartomas, requiring ophthalmological examination); ⑤ optic pathway glioma; ⑥ characteristic bone lesions, such as sphenoid dysplasia or long bone cortical thickening or without pseudoarthrosis (requires professional physician judgment); ⑦ a first-degree relative diagnosed with NF1 (family history). In addition, sometimes there is a high suspicion, but the clinical indicators are not met, and genetic testing can be used to help the diagnosis.

3. Under what circumstances is it necessary to complete genetic testing?

Genetic testing is currently an auxiliary diagnostic method for diagnosing genetic-related diseases. When clinical symptoms are atypical, it can help clarify the diagnosis. However, not all children with café-au-lait spots need to undergo this test. As mentioned earlier, if the café-au-lait spots are relatively small, with a number of less than 6, and there are no other symptoms and a family history of neurofibromatosis, there is no need to perform this test immediately, and follow-up observation can be performed. If other symptoms and signs mentioned in the above neurofibroma diagnostic criteria appear in the future (such as multiple and large café-au-lait spots, the appearance of neurofibromas, freckles in the axillary or groin area, Lisch nodules in the eyes, nervous system and characteristic bone lesions), and children with a clear family history, genetic testing can be completed. In addition, genetic testing can also help rule out other genetic diseases associated with café-au-lait spots.

4. Do coffee spots need treatment?

Simple coffee spots on the skin do not require special treatment. If aesthetics are a concern, laser treatment can be performed. The specific efficacy depends on the individual's treatment response, and some effects are not ideal.

For neurofibromatosis, symptomatic treatment is the main approach, which requires multidisciplinary diagnosis and treatment (including dermatology, neurology, ophthalmology, orthopedics, etc.), as well as long-term follow-up observation. Currently, targeted therapeutic drugs have been used clinically for patients with NF1 gene mutations, and this treatment method can be used when necessary.

References

Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2[J]. JAMA,1997,278:51.