Diagnosis of von Recklinghausen neurofibromatosis and the Albright syndrome. Two case reports.
We describe two females who were diagnosed as suffering from the Albright syndrome early in childhood. Both have close relatives with neurofibromatosis; it has been established that one of the two, in fact, has von Recklinghausen neurofibromatosis, while it remains uncertain if the other one also has this disorder. Apart from the pattern of café-au-lait hyperpigmentation, these two patients have several symptoms in common: repeated and spontaneous bone fractures leading to pseudarthrosis, frontal bossing, and kyphoscoliosis. Distinguishing between the two diseases is important for genetic counseling since neurofibromatosis, in contrast to the Albright syndrome, is heritable.
Bachmann Andersen
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Institute of Medical Genetics, University of Copenhagen, Denmark.
Sørensen
S A
SA
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D013577:Syndrome