Incontinentia pigmenti: XXY male with a family history
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J García-Dorado1, P de Unamuno, E Fernández-López
1Department of Dermatology, General Hospital, Salamanca, Spain.
Abstract:
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.
Insights
This study details a rare case of incontinentia pigmenti (IP) in a male with a family history, uniquely presenting with a 47,XXY karyotype (Klinefelter syndrome). This finding expands understanding of IP
Area of Science:
- Medical Genetics
- Dermatology
- Pediatrics
Background:
- Incontinentia pigmenti (IP) is a rare X-linked dominant disorder primarily affecting females, characterized by distinctive skin lesions.
- Male patients with IP are exceptionally rare due to embryonic lethality, often associated with Klinefelter syndrome (47,XXY).
- Previous reports document a few male cases of IP, some with family history, but co-occurrence with 47,XXY karyotype is seldom observed.