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Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?
Author(s) -
HAPPLE RUDOLF,
LENZ WIDUKIND
Publication year - 1977
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1977.tb12534.x
Subject(s) - striation , hypoplasia , medicine , anatomy , ectrodactyly , dermatology , biology , ectodermal dysplasia , paleontology
SUMMARY Striation of the metaphyseal regions of the long bones, a characteristic feature of the focal dermal hypoplasia syndrome, may be explained by functional X chromosome mosaicism. The following arguments are in favour of this hypothesis: (i) The striation of bones coincides with the zones of osteogenesis. (2) The skin lesions are distributed in a linear pattern as well. (3) The syndrome is probably inherited as an X‐linked dominant trait. Thus, the linear pattern of both skin and bone lesions could be due to random X inactivation.