Hemihyperplasia with Ehlers-Danlos syndrome like skin changes.
Hemihyperplasia is a condition characterized by asymmetric overgrowth of one or more body parts. It may be an isolated finding or may be associated with various syndromes like Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome, Proteus syndrome etc. Pigmentary skin lesions and capillary malformations are commonly seen in cases of hemihyperplasia. We report a case of hemihyperplasia with associated skin hyperextensibility, varicose veins, skin fragility, easy bruising and papery scars, on the side of hyperplasia. This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome.
Dalal
Ashwin
A
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke
Shubha R
SR
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D004535:Ehlers-Danlos Syndrome / Q000473:pathology*; D006801:Humans; D007717:Knee; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D012867:Skin / Q000098:blood supply / Q000473:pathology*; D014648:Varicose Veins / Q000473:pathology