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Incontinentia pigmenti: XXY male with a family history
Author(s) -
GarcíaDorado J.,
Unamuno P.,
FernándezLópez E.,
Veloz J. Salazar,
Armijo M.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03561.x
Subject(s) - incontinentia pigmenti , karyotype , family history , klinefelter syndrome , dermatology , pigmentation disorder , x chromosome , trunk , skin biopsy , medicine , pathology , genetics , biopsy , biology , pediatrics , chromosome , ecology , gene
We report on the case of a male who from the start of life displayed vesicular lesions; on the trunk these were clustered and on the limbs they adopted a linear configuration. After biopsy of one such lesion, the histopathological study was compatible with a diagnosis of incontinentia pigmenti (IP). In the following months, hyperkeratotic lesions appeared which later became pigmented. The mother and other female members of the family also showed different degrees of alteration related to the same disease. The karyotype study showed the existence of 47,XXY (Klinefelter syndrome). The exceptional nature of this case is that although it is the third case reported in the literature of a male affected by incontinentia pigmenti with a previous family history, it is the only one combining this characteristic with the presence of a 47,XXY karyotype.