Prenatal ultrasound diagnosis of ichthyosis

image compilation

Abstract

INTRODUCTION: Genodermatoses are hereditary diseases that primarily affect the skin and are often associated with increased morbidity and mortality. Ultrasound is commonly used in the prenatal diagnosis of these conditions and can reveal findings that suggest their presence. Ichthyosis, a common genodermatosis, is characterized by skin hardening, a predisposition to infections, respiratory issues, and dehydration. Obstetric ultrasound can show signs such as facial abnormalities, underdeveloped hands and feet, and skin thickening. OBJECTIVE: This study aims to review, identify, and describe fetal imaging characteristics associated with ichthyosis. METHODS: This narrative review focuses on compiling images from articles published over the last five years, using the MEDLINE databases via PubMed and Google Scholar. The English MeSH terms used include "Skin Diseases," "Ultrasonography," "Prenatal," and "Prenatal Diagnosis." The search strategy used in Google Scholar was: ((Genodermatosis) AND (Ultrasound)). In the PubMed platform, the search strategy used was: ((Skin Diseases) AND (Ultrasonography, Prenatal) OR (Prenatal Diagnosis)). RESULTS AND DISCUSSION: In cases of harlequin ichthyosis, the diagnostic hypothesis may arise based on findings such as abnormal extremities, growth restriction, echogenic amniotic fluid, and facial dysmorphisms, including a flat face and a wide mouth with thick lips, observed on three-dimensional ultrasound. Prenatal ultrasound findings in restrictive dermopathy may include a fetus with asymmetric growth restriction, separation of the chorioamniotic membrane, polyhydramnios or oligohydramnios, a small and continuously open round mouth, micrognathia, fixed flexion contractures of the upper limbs, and a varix of the fetal intra-abdominal umbilical vein. CONCLUSION: Ichthyoses are rare genetic diseases with often poor prognoses. Imaging, being non-invasive and able to detect the disease even in the absence of a family history, plays a crucial role. Therefore, imaging professionals must be familiar with the distinctive imaging characteristics of these conditions, which can be identified through ultrasound. Prenatal ultrasound, especially 3D ultrasound, plays a key role in diagnosis, although the late manifestation of the disease poses challenges for timely detection and treatment.