Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity.
A boy with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasia, poorly developed subcutaneous fat and normocomplementaemic membranoproliferative glomerulonephritis is described. Additional findings were an old-looking, peculiar face, mild developmental delay, calcified choroid plexus and renal arteriolosclerosis. It is believed that this is a new case of a newly recognized entity.
Proesmans
W
W
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Legius
E
E
Van Herck
K
K
Van Damme
B
B
D001706:Biopsy; D002648:Child; D002831:Choroid Plexus / Q000000981:diagnostic imaging; D015432:Glomerulonephritis, Membranoproliferative / Q000150:complications*; D006201:Hair Diseases / Q000150:complications* / Q000235:genetics; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D008297:Male; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications* / Q000473:pathology; D013684:Telangiectasis / Q000150:complications* / Q000473:pathology; D014057:Tomography, X-Ray Computed