Pediatric Skin and Genetic Disorders: A Parent's Guide - Pediatrics

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Pediatric Skin and Genetic Disorders


Hello Doctor, we have a newborn at home, and there are slight skin protrusions on the left thigh, calf, and the side of the foot.
We have consulted a pediatrician, but the response was to wait and observe, which makes us very worried that it could be a rare disease, such as pigmentary disorder (since it grows along the nerve pathway, but the color is not as deep as in incontinentia pigmenti).
Could this condition be a manifestation of skin rash or warts? Or could it be a type of flat wart? Recently, we visited Dr.
Lin Ru-li at Chang Gung Memorial Hospital in Linkou for genetics consultation, and he mentioned that it does not appear to be typical incontinentia pigmenti, and if it were, there would be no treatment options available.
So far, we have seen five doctors, and none have been able to confirm what this condition is, so we hope you can provide some insights.
Here is a link to the child's pictures for your reference: https://drive.google.com/drive/folders/1kyzHaoMqaR1fQUzOp7hwH4tHLKkcICmL?usp=share_link

Niming, 30~39 year old female. Ask Date: 2022/12/23

Dr. Xiao Kaiwen reply Pediatrics


I apologize for not being able to provide a photo, but I have consulted with several physicians (including experienced pediatricians from a reputable medical center).
It seems to be a relatively rare situation.
I believe it would be best to continue follow-up with a more experienced neonatologist who can see the case in person and is trusted by the parents.

Reply Date: 2022/12/23

More Info


Understanding pediatric skin conditions and genetic disorders can be quite challenging for parents, especially when faced with uncertainties regarding their newborn's health. In your case, the presence of skin protrusions on your newborn's left thigh, calf, and the side of the foot raises valid concerns. While I cannot access the images you provided, I can offer some insights based on the information you've shared and general medical knowledge.

Firstly, it’s important to understand that newborns can present with a variety of skin conditions, many of which are benign and self-limiting. Common skin issues in infants include rashes, birthmarks, and other dermatological anomalies. The skin protrusions you describe could potentially be benign conditions such as hemangiomas (which are vascular growths), or they could be related to other dermatological issues like epidermal nevi or even milder forms of keratosis.
The concern regarding pigmentary disorders, such as Incontinentia Pigmenti (IP), is understandable, especially since you mentioned that the protrusions seem to follow a neural crest pattern. However, as noted by the geneticist you consulted, if the characteristics do not align with typical presentations of IP, it may be less likely that this is the diagnosis. IP is a rare genetic condition that primarily affects females and is characterized by skin lesions that evolve through various stages, often leading to pigmentation changes.
Regarding your question about whether these protrusions could be a form of warts (verrucae) or flat warts, it’s essential to differentiate these from other skin conditions. Warts are typically caused by human papillomavirus (HPV) and can appear as rough, raised lesions. Flat warts, on the other hand, are smoother and can occur in clusters. The appearance and texture of the lesions, along with their distribution, can help in making a more accurate diagnosis.

Given that you have consulted multiple physicians without a definitive diagnosis, it may be beneficial to seek a pediatric dermatologist who specializes in skin conditions in infants. They can provide a thorough examination and possibly recommend a biopsy if necessary to clarify the nature of the skin lesions.
In terms of management, if the lesions are benign, observation may be the best course of action, as many skin conditions in infants resolve on their own. However, if there is any indication of discomfort, infection, or if the lesions change in appearance, further intervention may be warranted.

Additionally, it’s crucial to maintain open communication with your healthcare providers. Documenting any changes in the skin lesions, such as size, color, or associated symptoms (like itching or discomfort), can provide valuable information for your doctors.
Lastly, as a parent, it’s natural to feel anxious about your child’s health, especially when faced with uncertainties. Connecting with support groups or other parents who have experienced similar situations can also provide emotional support and practical advice.

In summary, while the skin protrusions on your newborn may be concerning, many pediatric skin conditions are benign. A thorough evaluation by a pediatric dermatologist may provide clarity and peace of mind. Remember, you are your child’s best advocate, and seeking specialized care is a proactive step in ensuring their health and well-being.

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