[Congenital poikiloderma syndrome with early childhood blister formation (Brain syndrome) and unusual associated neurologic symptoms].
We report on an 8-year-old girl with manifestations of congenital poikiloderma during her first year of life. Macroscopically, there was reticular teleangiectasia on cheeks and thighs, generalized de- and hyperpigmentation, dry skin with pityriasiform scaling and milia as a result of former blister formation. Histologically and ultrastructurally cytoid bodies, probably of keratinocyte origin, were observed. Associated findings were leucocytopenia, hyperlipoproteinaemia, spastic ataxia and lack of teeth. There is consanguinity in the family, but 3 sisters, the parents and the ancestors were completely healthy. Because of transient blister formation on the face, upper arms and elbows we would like to classify our case as Brain syndrome.
Mayet
A
A
Zentrum der Dermatologie und Venerologie, Abteilung I Johann Wolfgang Goethe-Universität Frankfurt am Main.
Marsch
W C
WC
Wolter
M
M
Senger
E
E
Holzmann
H
H
D002648:Child; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000473:pathology; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis* / Q000473:pathology; D012867:Skin / Q000473:pathology
Kongenitales Poikilodermiesyndrom mit frühkindlicher Blasenbildung (Brain-Syndrom) und ungewöhnlicher neurologischer Begleitsymptomatik.