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Asking For Other, Male 13, Karachi
My son is 13 years old he is already suffering from pigeon chest and Orthostatic proteinuria but recently these marks appear on his back without any injury. can anyone tell what's the reason behind this and is there any connection between these marks and his past conditions.
Orthostatic proteniuria is a benign isolated finding. But pigeon chest(pectus carinatum) and skin findings could point towards connective tissue disease like marfan and ehlers danlos syndrome. How is his skin elasticity and his limbs and digits length wise?
Seems like Collagen Disorders like Marfan or Ehlor Danlos but may need in person evaluation by a Specialist. Kindly Visit a Consultant
Patient
Post Owner
yes my son's endocrinologist also felt that and referred for genetic testing but I was confuse so thought to take opinions from all of you...can you please tell what are these conditions and how to take care of a person with these conditions...
6 months ago
These could be stretch Marks simple to complex diseases like Marfan. We need to rule out all the possiblities. So that's why the Doctor has advised Genetic Testing. It would help with the diagnosis and early managements are quite beneficial. May Allah bless your child with good health and long age. Thanks
6 months ago
apply calamine lotion 1+1+1 n also do her lipid profile
visit to specialist physician
Is he wearing orthosis? Kindly check his CBC and bleeding profile if they are without any injury. It's less likely to be related with past conditions. They can be just due to skin allergy. Please book an appointment for a detailed history and evaluation.
Patient
Post Owner
No he is not wearing any orthosis yet...was thinking to visit orthopedic to discuss about it but endocrinologist said firstly his internal health should be good like his vit D levels and other things after that visit orthopedic but then these marks appear and she also felt there is some connective tissue disorder or something like that and referred to Genetic testing...she was saying that individually all these conditions are not alarming but one kid having all these conditions together, so there can be a link between them or maybe not and genetic testing will clear it...
but I am confuse what all this is happening from last one year so thought to take opinions from all of you...
6 months ago
MBBS, registered with Medical board of Australia and medical council of Ireland, Prometric (QCHP) licensing exam | Multan | Book Appointment
I understand it must be hard for you to come to know about it. How about any symptoms? What about his height? It's a possibility to have association with connective tissue disorders such as Ehler Danlos syndrome, Marfan syndrome etc. but first we need to to know detailed history. First get the genetic tests done so that I can give you a better picture of his condition m. Visit an orthopedic for his orthosis because it's high time for his bone growth and pigeon chest can be improved by wearing it.
6 months ago
These are stretch marks and are indicative of some connective tissue disorder its better to book a consultation with medical specialist
Conditions I have mentioned are usually autosomal dominant, so if a child is affected then one of the parents would also have the condition but not vice versa, Well genetics is complicated, so lets not talk about that. But if in ur child case, the parents do not have the condition then sometimes particulary in marfan(upto 25% cases) a new mutation in child can occur and result in marfan syndrome. Both of these conditions are not curable but can be managed with regular monitoring of vascular and cardiac complications. And also requires one or two medications in case of marfan syndrome.
Patient
Post Owner
His skin and limbs feel normal to me, his pigeon chest is very prominent and he is very thin so that looks little odd...
his endocrinologist also felt some convective tissue disorder and referred for genetic testing but I am confuse so thought to take opinions from all of you..
can you please tell what are these conditions you mentioned and how to handle a patient having these...
6 months ago