Fiver year old boy with isolated unilateral limb hypertrophy

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Dear colleagues,
I’d appreciate your opinion on this boy who’s got an isolated, painless
hypertrophy of the subcutaneous fat of his left lower limb.
Can I consider him as macrodystrophia lipomatosa even with the absence of
skeletal enlargement? Or are there any other syndromes to be considered? He
does not have any vascular malformations or neurofibromas.

Thank you in advance.

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3 thoughts on “Fiver year old boy with isolated unilateral limb hypertrophy”

  1. OCAD
    talaatbr2014

    Thanks for sharing this interesting case. I think it is localized gigantism
    but you need to rule out underlying etiology such as CLOVES syndrome. To
    my knowledge, not all patients with CLOVES syndrome have all signs; some
    can be subtle and a dedicated physical exam, and genetic screening are
    required.

    BW,

    Talaat Youssef

  2. avneesh.chhabra
    Agree – Cloves syndrome!

    Here is a beautiful read on PTEN mutations/Cloves syndrome/FAVA, etc.

    pubs.rsna.org/doi/full/10.1148/rg.2019180136

    Best!
    AC

    Avneesh Chhabra, M.D. M.B.A.
    Professor, Radiology & Orthopedic Surgery
    Chief, Musculoskeletal Radiology
    Department of Radiology
    5323 Harry Hines, Blvd. Dallas, Tx-75390-9316
    Office: 214-648-2122
    http://www.utsouthwestern.edu/radiology<http://www.utsouthwestern.edu/education/medical-school/departments/radiology/>

    
    EXTERNAL MAIL
    Thanks for sharing this interesting case. I think it is localized gigantism but you need to rule out underlying etiology such as CLOVES syndrome. To my knowledge, not all patients with CLOVES syndrome have all signs; some can be subtle and a dedicated physical exam, and genetic screening are required.

    BW,
    Talaat Youssef

    Dear colleagues,
    I’d appreciate your opinion on this boy who’s got an isolated, painless hypertrophy of the subcutaneous fat of his left lower limb.
    Can I consider him as macrodystrophia lipomatosa even with the absence of skeletal enlargement? Or are there any other syndromes to be considered? He does not have any vascular malformations or neurofibromas.

    Thank you in advance.

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