The McCune‐Albright syndrome: a lethal gene surviving by mosaicism

@article{Happle1986TheMS,
  title={The McCune‐Albright syndrome: a lethal gene surviving by mosaicism},
  author={Rudolf Happle},
  journal={Clinical Genetics},
  year={1986},
  volume={29}
}
  • R. Happle
  • Published 1 April 1986
  • Medicine
  • Clinical Genetics
In the McCune‐Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4‐year‐old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a systematized pattern following the lines of Blaschko. Apparently, this pattern visualizes the dorso‐ventral outgrowth of two different populations of cells during early embryogenesis… 
Cutaneous manifestation of lethal genes
TLDR
The same mechanism of origin is proposed to apply to two other birth defects, implying a more general significance of the concept.
Genetic diagnosis of multiple affected tissues in a patient with McCune–Albright syndrome
TLDR
A 32-year-old man was diagnosed as McCune–Albright syndrome with the following findings: polyostotic fibrous dysplasia, ‹café-au-lait’ spots and acromegaly and left-pleural effusion, which disappeared after almost a year without special treatment.
Melanotic macules following Blaschko's lines in McCune‐Albright syndrome
TLDR
It is concluded that, in contrast with the calé‐au‐lait spots in autosomal dominant neurofibromatosis 1, the configuration pattern of melanotic macules in McCune–Albright syndrome in many cases characteristically reflects the mosaic state of the organism.
McCune—Albright Syndrome
TLDR
Collaborative and multi-center research efforts are paramount to advance the understanding of the etiology, pathophysiology, diagnosis and treatment of McCune-Albright syndrome.
Gsα Mutations in Fibrous Dysplasia and McCune‐Albright Syndrome
TLDR
Fibrous dysplasia (FD) is a focal bone lesion composed of immature mesenchymal osteoblastic precursor cells, leading to increased proliferation and abnormal differentiation, which explains why MAS patients have stimulation of multiple peripheral endocrine glands in the absence of circulating stimulatory pituitary hormones and increased skin pigment.
McCune–Albright Syndrome
TLDR
McCune–Albright syndrome is a rare, non-hereditable genetic disorder classically defined by a clinical presentation of bone, skin, and/or endocrine abnormalities commonly presents in childhood with a fracture or endocrine abnormality, which leads to a diagnosis.
Etiology of fibrous dysplasia and McCune-Albright syndrome.
An animal model of fibrous dysplasia.
Meningioma associated with McCune-Albright syndrome
TLDR
A 38-year-old woman found to have a spinal meningioma causing myelopathy is reported, which is a sporadic syndrome characterized by the clinical triad of polyostotic fibrous dysplasia, hyperpigmented macules, and precocious puberty combined with various combinations of other hyperfunctional endocrinopathies.
...
...

References

SHOWING 1-10 OF 39 REFERENCES
Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects
TLDR
The book by Smith is primarily an atlas of congenital malformations, and an early chapter reviews pertinent embryology, including a section on morphogenesis of particular organs.
SYNDROME CHARACTERIZED BY OSTEITIS FIBROSA DISSEMINATA, AREAS OF PIGMENTATION, AND A GONADAL DYSFUNCTION FURTHER OBSERVATIONS INCLUDING THE REPORT OF TWO MORE CASES1
TLDR
The object of this paper is to report two additional cases, and to discuss certain added information concerning the syndrome which they bring out, as well as to report possible relationships between these apparently disconnected manifestations.
[Genetic interpretation of linear skin abnormalities].
  • R. Happle
  • Medicine
    Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • 1978
TLDR
The generalized linear patterns of incontinentia pigmenti, focal dermal hypoplasia and sex-linked chondrodysplasia punctata may be explained by functional X-chromosome mosaicism, and the same mechanism may account for a peculiar striation of bones observed in focal Dermal Hypoplasia.
Melanotic macules in Albright's syndrome and in neurofibromatosis.
The clinical features of the pigmentation in 27 cases of Albright's syndrome and 19 cases of neurofibromatosis were indistinguishable. Microscopic study of split-skin preparations showed giant
Acromegaly and hyperprolactinemia in McCune-Albright syndrome. Evidence of hypothalamic dysfunction.
TLDR
Data support the hypothesis that long-standing hypothalamic stimulation may have been responsible for the later development of a pituitary tumor in a 21-year-old woman with McCune-Albright syndrome.
...
...