Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. The present study reports a case of a pregnant woman who underwent two successive pregnancies at the ages of 35 and 36, respectively, with both fetuses presenting with HI. The first fetus was delivered alive though succumbed shortly after birth, while the second fetus was stillborn and birthed by induced labor. The fetuses exhibited typical features of fetal HI, including thick, platelike scaling and fissuring, which act as a nidus for infection. The present study is the first to report two cases of fetal HI from successive pregnancies in the same woman. Improved understanding of the genetic basis of HI indicates that genetic screening for candidate gene mutations related to HI, particularly mutations in the adenosine triphosphate binding-cassette transporter ABCA12, may prove beneficial in prenatal diagnosis. Establishing methods for early diagnosis of fetal HI may reduce the physical and mental distress to parents and relatives.

Rationale: Giant uterine myomas may be life-threatening due to pressure effects on the lungs and other contiguous organs. Patient concerns: A 32-year-old pregnant Asian woman was admitted to our hospital early in her pregnancy with a pre-pregnancy history of multiple uterine myomas. Diagnosis: She was diagnosed with multiple giant uterine myomas in pregnancy. Interventions: No intervention was performed on the woman. Outcomes: A reduction in tumor size and disappearance of tumor blood supply were seen on conventional and contrast-enhanced ultrasounds (CEUS) on postpartum day 34. Mass volume gradually decreased and no blood flow signals were seen on CEUS during postpartum follow-up. Lessons: Childbirth can block the blood supply of giant uterine myomas and reduce mass size. In such cases, childbirth may be considered therapeutic.