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Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis
The British Journal of Dermatology
|April 1, 1985
Summary
Placental sulphatase deficiency (PSD) in pregnancy can lead to X-linked ichthyosis in infants. This genetic skin condition may present variably, not always at birth.
Area of Science:
- Genetics
- Dermatology
- Obstetrics
Background:
- Placental sulphatase deficiency (PSD) is a rare condition affecting steroid metabolism during pregnancy.
- Prenatal diagnosis of PSD is suggested by low estrogen excretion and abnormal urinary steroid patterns.
Observation:
- Three pregnancies with suspected PSD were monitored.
- Infants born from these pregnancies were assessed for skin conditions.
- Delivery methods and infant health outcomes were recorded.
Findings:
- Two cases confirmed PSD by absent placental sulfatase enzyme activity.
- Infants exhibited variable presentations of ichthyosis, including X-linked ichthyosis and ichthyosis vulgaris.
- Clinical manifestations ranged from neonatal scaling to later-onset, typical X-linked ichthyosis.
Implications:
- X-linked ichthyosis can have a variable clinical presentation, not always evident at birth.
- Early identification of PSD may be crucial for managing pregnancy and anticipating neonatal skin conditions.
- Understanding variable ichthyosis phenotypes aids in accurate diagnosis and patient care.