Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Rieger, E; Kofler, R; Borkenstein, M; Schwingshandl, J; Soyer, HP; Kerl, H.
Melanotic macules following Blaschko's lines in McCune-Albright syndrome.
Br J Dermatol. 1994; 130(2):215-220
Doi: 10.1111/j.1365-2133.1994.tb02903.x
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- Co-Autor*innen der Med Uni Graz
- Borkenstein Helmuth Martin
- Kerl Helmut
- Soyer Hans Peter
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- Abstract:
- Hyperpigmented macules are a characteristic feature of neurofibromatosis and the McCune-Albright syndrome. Whereas neurofibromatosis 1 has an autosomal dominant mode of inheritance, it has been suggested that McCune-Albright syndrome is the result of a lethal gene surviving by mosaicism. Recent molecular studies have supported this concept by providing evidence of a somatic mutation of the gene encoding the G protein. We report two patients with McCune-Albright syndrome whose melanotic macules show a clear relation to the lines of Blaschko. The lines of Blaschko are thought to represent the dorso-ventral outgrowth of two different cell populations during embryogenesis, thus reflecting genetic mosaicism. A survey of published photographs of patients with McCune-Albright syndrome in the literature revealed additional cases with macules following Blaschko's lines. In other cases, the configuration of the macules was reminiscent of the flag-like rectangular pattern of pigmentation found in human chimaeras. A very early somatic mutation may have similar effects on the pigmentation pattern as a chimaeric state, which is the result of the double fertilization of an ovum. Café-au-lait spots in 10 of our own patients with neurofibromatosis 1 could not be associated with either Blaschko's lines or the rectangular pattern of pigmentation in chimaeras. We conclude that, in contrast with the café-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.
- Find related publications in this database (using NLM MeSH Indexing)
- Child, Preschool -
- Female -
- Fibrous Dysplasia, Polyostotic - genetics
- Humans - genetics
- Infant - genetics
- Melanosis - genetics
- Mosaicism - genetics
- Skin Pigmentation - genetics