Which Medical Specialty Should You Consult for Marshall White Syndrome? - Family Medicine

Share to:

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.

Similar Q&A

Which Specialist to Consult for Hand Coordination and Numbness Issues?

Hello Doctor, I would like to ask, I have had poor fine motor skills in my hands since childhood, and I also experience numbness in my hands and feet. Which specialty should I consult for diagnosis, assessment, and treatment? I am currently seeing an endocrinologist for the manag...


Dr. Peng Shiwei reply Neurology
Hello, I recommend that you visit a neurology outpatient clinic for consultation. Thank you for your inquiry.

[Read More] Which Specialist to Consult for Hand Coordination and Numbness Issues?


Which Medical Specialty Should You Consult for Neurofibromatosis?

Hello, Doctor: I would like to ask, I have a rare disease called neurofibroma, and I have seen many doctors. Most of them are seeing this for the first time or mentioned that they did not study this rare disease in medical school. I have also consulted with orthopedic surgeons be...


Dr. Liu Qingshan reply Rare Disease
1. Genetic and diagnostic issues: Consult a neurologist. 2. Aesthetic concerns: Consult a plastic surgeon or dermatologist. 3. Intracranial nerve tumor compression: Consult a neurosurgeon.

[Read More] Which Medical Specialty Should You Consult for Neurofibromatosis?


Understanding Marfan Syndrome: Diagnosis and Specialist Guidance

I am unsure if there are any objective methods for diagnosing this condition or which specialty clinic to consult. A dermatologist had previously suspected my condition, while a cardiologist at the hospital did not consider it to be within their expertise. Is the latter opinion m...


Dr. Jian Yingxiu reply Rare Disease
Marfan syndrome traditionally has a set of diagnostic criteria based on symptoms, with higher scores indicating a closer resemblance to the condition. However, current genetic testing can identify pathogenic genes associated with Marfan syndrome as well as other connective tissue...

[Read More] Understanding Marfan Syndrome: Diagnosis and Specialist Guidance


Navigating Rare Diseases: Which Specialist Should You Consult?

Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing from the previous rig...


Dr. Lin Xuanpei reply Rare Disease
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...

[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?


Related FAQ

Which Specialty To Consult

(Internal Medicine)

Genetics

(Family Medicine)

Family Medicine

(Pediatrics)

Medical Consultation

(Family Medicine)

Feet

(Family Medicine)

Glans

(Family Medicine)

Which Department To Visit

(Pediatrics)

Wilson'S Disease

(Rare Disease)

G6Pd Deficiency

(Family Medicine)

Family Medicine

(Neurosurgery)