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Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis. 1985

J W Honour, and S K Goolamali, and N F Taylor

Three infants with X-linked ichthyosis have been observed following pregnancies in which placental sulphatase deficiency (PSD) was suggested prenatally by low oestrogen excretion and an abnormal urinary steroid excretion pattern. This was confirmed in two cases by the absence of placental enzyme activity. In one case labour was spontaneous but all deliveries required Caesarean section. At 8 months the first infant showed an eczema in an atopic distribution but when seen at 5 years had typical X-linked ichthyosis. The skin of the second child peeled extensively at the age of 2 days but was not troublesome for 2 years, when ichthyosis vulgaris was diagnosed on clinical grounds. This pattern has persisted for 3 years. The third infant showed a mildly scaly skin in the neonatal period but at 3 months the features and distribution of X-linked ichthyosis were apparent. X-linked ichthyosis may have a variable presentation which is not always apparent at birth.

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007744 Obstetric Labor Complications Medical problems associated with OBSTETRIC LABOR, such as BREECH PRESENTATION; PREMATURE OBSTETRIC LABOR; HEMORRHAGE; or others. These complications can affect the well-being of the mother, the FETUS, or both. Complications, Labor,Labor Complications,Complication, Labor,Complication, Obstetric Labor,Complications, Obstetric Labor,Labor Complication,Labor Complication, Obstetric,Labor Complications, Obstetric,Obstetric Labor Complication
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D010920 Placenta A highly vascularized mammalian fetal-maternal organ and major site of transport of oxygen, nutrients, and fetal waste products. It includes a fetal portion (CHORIONIC VILLI) derived from TROPHOBLASTS and a maternal portion (DECIDUA) derived from the uterine ENDOMETRIUM. The placenta produces an array of steroid, protein and peptide hormones (PLACENTAL HORMONES). Placentoma, Normal,Placentome,Placentas,Placentomes
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004967 Estrogens Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds. Estrogen,Estrogen Effect,Estrogen Effects,Estrogen Receptor Agonists,Estrogenic Agents,Estrogenic Compounds,Estrogenic Effect,Estrogenic Effects,Agents, Estrogenic,Agonists, Estrogen Receptor,Compounds, Estrogenic,Effects, Estrogen,Effects, Estrogenic,Receptor Agonists, Estrogen

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