Neurofibromatosis and Albright's syndrome.
For both NF and Albright's syndrome, the pathogenetic relationships between the various elements of the respective syndromes remain a mystery, and the importance of nontumorous endocrine abnormalities in neurofibromatosis has, in my opinion, been overstated. Nonetheless, the parallel between the two disorders is striking, and the consistent occurrence of skin and skeletal dyplasias in both suggests that a search for the fundamental defect in either can be advanced by focusing on what is common to these two types of tissue. For example, how does one reconcile a disturbance of the melanosome with skeletal aberrations? An answer to that question will put us on the right track. One final question must be asked. Are neurofibromatosis and Albright's syndrome alternate manifestations of the same disorder? In a trivial sense, the answer may be yes. That is, in at least some instances, one condition may have been mistaken for the other, and thus a factitious overlap or "sameness" misconstrued. Upon closer scrutiny, however, there are two important points that would cast doubt on a positive response to this question: Neurofibromatosis, or at least neurofibromatosis I, is heritable as an autosomal dominant trait, whereas heritability has not been documented for Albright's syndrome; and I am unaware of reported cases that describe both disorders, diagnosed by criteria beyond café au lait spots and bone dysplasia, in one and the same individual, although such a case has been shared with me by S. A. Sorensen, M.D., of the Genetics Institute of Copenhagen, Denmark. The full reporting of such a case would be of great interest.
D005357:Fibrous Dysplasia of Bone / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000235:genetics*; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D010859:Pigmentation Disorders / Q000209:etiology / Q000235:genetics; D011542:Pseudarthrosis / Q000235:genetics; D011627:Puberty; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*