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Child has hypohydrotic ectodermal dysplasia, lumps on spine, discolored. Any suggestions?

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Spine Surgeon
Practicing since : 1998
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Hello, my 3 year old son who has Hypohydrotic ectodermal dysplasia accommpanied with significant Immunology issues is now presenting with lumps 2-3 on his spine that come and go. They are size of a nickel to a quarter and when present the skin around them becomes discolored. I have consulted his pedi who informs me this is just his vertebra and is more pronounced when he bends over. Unfortunately, when we got him to the pedi the lumps were not present but now 3 days later are back. Any suggestions as to where to begin.
Thank you, XXXXXXX
Posted Sun, 30 Sep 2012 in Osteoporosis
Answered by Dr. S K Mishra 1 hour later

Thanks for the query.

Hereditary Ectodermal Dysplasia typically involves skin, teeth, hair and nails. In spinal region one can find lines of Blaschko - the lines forming a typical V-shape over the upper spine. Apparently, these lines reflect faulty embryogenesis. These lines do not correspond to any known nervous, vascular or lymphatic structures but represent the developmental growth pattern of the skin only.

Based on your description, I am not sure if what he has is faulty embryogenesis. However since his pediatric has a doubt about it being a vertebra, you can consult a pediatric neurologist or a spine specialist nearby. He/she will be able to differentiate the normal vertebrae or the developmental growth pattern as mentioned above.

Hope this answers your query. Let me know if you have other enquiries.

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Follow-up: Child has hypohydrotic ectodermal dysplasia, lumps on spine, discolored. Any suggestions? 1 hour later
I have heard of this before but thinking not so only because the bumps are hard and round in shape not rash like and consistenly come and go in same location on the spine. We do see neurosugeons regularly and will see them again in 2 weeks. I will ask..
Answered by Dr. S K Mishra 8 hours later

If the features of the affected area are not consistent with blaschko, then probably these lumps may not be related. Visit to his neurosurgeon will clarify your doubts.

I hope I was helpful. Should you have any concerns later, I will be available here for guidance.

Best Wishes
Above answer was peer-reviewed by
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