McCune-Albright syndrome

Alternative eponyms

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A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, and endocrine disorders.

Description

A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, and endocrine disorders, especially precocious puberty in girls. The long bones are most frequently affected. Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking. Orthopaedic care may be necessary for disability resulting from pathologic fractures and bony overgrowth. Varying degree of mental retardation. Puberty is usually reached at 5 to 10 years of age. Predominantly in females (3:2). Writers disagree as to whether heredity is a factor.

This condition is similar to the Jaffe-Lichtenstein syndrome, but distinguished from that by the patchy skin pigmentation and sexual precocity.

Jaffe-Lichtenstein syndrome is entered under Henry Lewis Jaffé, American pathologist, 1896-1979.

Bibliography

  • A. Weill:
    Pubertas praecox und Knochenbrüchigkeit.
    Klinische Wochenschrift, Berlin, 1922, 1: 2114-2115.
    Case presentation of a 9-year old girl with precocious puberty, fragile bones, and dermal pigmentation.
  • V. Gaupp:
    Pubertas praecox bei Osteo-dystrophia fibrosa.
    Monatsschrift Kinderheilkunde, Berlin, 1932, 53: 312-322.
  • D. J. McCune:
    Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism.
    American Journal of Diseases of Children, Chicago, 1936, 52: 743-747.
  • D. J. McCune, H. Bruch:
    Osteodystrophia fibrosa. Report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, a review of the literature.
    American Journal of Diseases of Children, Chicago, 1937, 54: 806-848.
  • F. Albright, A. M. Butler, Aubrey Otis Hampton, P. H. Smith:
    Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. Report of five cases.
    New England Journal of Medicine, Boston, 1937, 216: 727-746.

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