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Axillary freckling
    Differential Diagnosis[Top] [Nav]
neurofibromatosis 1
    Discussion -- not available online[Top] [Nav]
    Erratum in printed version[Top] [Nav]
       *Last page of the article in Arch Dis Child is 307, not 310.
    Update Comments[Top] [Nav]
  • Incorrectly identifies inguinal freckling as the Crowe sign. Crowe briefly mentions perineal freckling in his paper, but never inguinal freckling. [101]
  • Briefly discusses two rare forms of neurofibromatosis that involve mosaicism. A parent may have the NF mutation only in cells of his or her germ line, and, because of this mosaicism, appear clinically unaffected. Similarly, the NF mutation may occur during embryogenesis, so only a portion of the patient's body is affected. This is most easily noticed in diseases with cutaneous manifestations, such as neurofibromatosis 1. [103]
  • There is another condition in which skin pigmentation may change with stress. Patients with Addison disease lose the hyperpigmentation characteristic of that disorder because of their equally characteristic edema. The pigmentation rapidly reappears, however, when they become dehydrated with the onset of an Addisonian crisis. [p. 94] [104]
    Footnotes in Print Edition[Top] [Nav]
    (1) Axillary freckling as a diagnostic aid in neurofibromatosis.
  Crowe FW.   Ann Int Med. 1964;61:1142-1143.
    (2a) McKusick 162200 = neurofibromatosis 1.
    (2b) McKusick 101000 = neurofibromatosis 2.
    (3) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis.
  Riccardi VM, Eichner JE. Baltimore: Johns Hopkins University Press, 1986: 56-75, 187.   Amazon.com
    (4) The genetic aspects of neurofibromatosis.
  Carey JC, Baty BJ, et al.   Ann N Y Acad Sci 1986;486:45-56.  Pubmed+Abstract  Similars
    (-) Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.
  Watson GH.   Arch Dis Child 1967 Jun;42(223):303-7.  Pubmed  Similars
    (-) Ultrastructure of early pigmentary changes in Dowling-Degos' disease.
  Grosshans E, Geiger JM, et al.   J Cutan Pathol 1980 Apr;7(2):77-87.  Pubmed+Abstract  Similars
    (-) As of '87, he's Proteus Man.
  Anonymous.   Science News. 1987;132:55.
    New References[Top] [Nav]
    101.Images in clinical medicine. Neurofibromatosis type 1.
  Cohen PR.   N Engl J Med 1993 Nov 18;329(21):1549.  Pubmed  Similars
    102.Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 2nd ed.
  Riccardi VM. Baltimore: Johns Hopkins University Press, 1992: 499 pp.   Amazon.com
    103.The importance of genetic mosaicism in human disease [editorial; comment].
  Bernards A, Gusella JF.   N Engl J Med 1994 Nov 24;331(21):1447-9.  Pubmed  Similars
Stress and changes in skin pigmentation
    104.Pigmentation of the skin.
  Jeghers H.   N Engl J Med. 1944;231:88-100,122-136,181-189.
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    ©1986-2000 John Sotos, MD. All rights reserved.  Last updated 16:33 PDT on July 4, 2000.[Top]

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