Which specialty should one consult for the treatment of Marshall-Smith syndrome?
Hello, doctor.
I have noticed since elementary school that my legs (mostly around the knees and calves) often have small white spots that resemble vitiligo, but they only appear when I am standing.
When I lie down or rub my skin, the white spots disappear.
I have not paid much attention to it since I have not felt any discomfort.
However, as I have gotten older, I have noticed that the white spots have increased in number and have now spread to all four limbs.
Initially, I did not want to address it (because there was no discomfort), but I have recently observed that my upper arms and calves are starting to develop dark patches, resembling post-vasculitis hyperpigmentation.
A while ago, I went to the rheumatology and immunology department for blood tests, which ruled out any immune system issues, as the blood report did not show typical vasculitis markers.
However, based on the skin manifestations, the doctor suspects it could be vasculitis.
I explained that my symptoms are very similar to Marshall-Smith syndrome, and after reviewing some medical information, the doctor agreed that the symptoms are essentially the same.
He prescribed steroids and quinine for me to try.
I have been on them for four months now, but there has been no improvement, although it has not worsened either.
The rheumatology and immunology doctors mentioned that they have not encountered any patients with Marshall-Smith syndrome and seem to feel at a loss.
Which specialty should I consult for advanced treatment regarding this issue? I am concerned that if left untreated, the hyperpigmentation on my limbs will worsen and affect my appearance.
Lena, 40~49 year old female. Ask Date: 2023/02/19
Dr. Cai Dongqi reply Family Medicine
Hello Lena: It is recommended to first consult a dermatologist.
Reply Date: 2023/02/19
More Info
When dealing with a complex condition like Marshall White Syndrome, it is essential to consult the appropriate medical specialties to ensure a comprehensive evaluation and treatment plan. Based on the symptoms you described, which include white spots that appear when standing and the development of black spots resembling post-inflammatory hyperpigmentation, it is advisable to start with a dermatologist. Dermatologists specialize in skin conditions and can provide a thorough assessment of your skin manifestations, including the white spots and any changes in pigmentation.
In addition to dermatology, considering the systemic nature of your symptoms, it may also be beneficial to consult with a rheumatologist. Since you have already seen a rheumatologist who ruled out typical autoimmune conditions, they can help monitor any potential systemic involvement and manage any ongoing symptoms you may have. Rheumatologists are skilled in dealing with conditions that may have overlapping symptoms with autoimmune disorders, and they can provide further insights into your condition.
If your symptoms persist or worsen, or if you develop new symptoms, it may also be worthwhile to seek a second opinion from a specialist in vascular medicine or a hematologist. These specialists can evaluate the vascular aspects of your symptoms, especially since you mentioned concerns about pigmentation changes that could be related to vascular issues.
In terms of treatment, you mentioned that you have been prescribed corticosteroids and quinine without significant improvement. It is crucial to communicate this to your healthcare providers, as they may need to adjust your treatment plan. There are various treatment options available for skin conditions, including topical therapies, phototherapy, and systemic medications, depending on the underlying cause of your symptoms.
Furthermore, if you are concerned about the cosmetic impact of your skin changes, discussing options for cosmetic dermatology with a dermatologist could be beneficial. They can recommend treatments such as laser therapy or chemical peels that may help improve the appearance of your skin.
Lastly, it is essential to maintain open communication with your healthcare providers. Keep a record of any changes in your symptoms, and do not hesitate to ask questions or express concerns about your treatment plan. If you feel that your current providers are not addressing your concerns adequately, seeking a second opinion is always a valid option.
In summary, for Marshall White Syndrome, start with a dermatologist for skin evaluation, consider a rheumatologist for systemic assessment, and keep an open line of communication with your healthcare team to ensure you receive the best possible care tailored to your specific needs.
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