We Summarize a three cases of transient fetal hypertrichosis in low risk preganant women. Hypertrichosis has been previously associated with over 140 different syndromes (OMIM); however this finding is rarely described in prenatal ultrasound. In this study we describe the finding of hypertrichosis which resolved later in gestation. CASE N1: A prominent unibrow (synophrys) and elongated eyelashes were noted at 24 weeks of gestation with no other abnormal features. CASE N 2: A prenatal ultrasound scan was performed at 24 weeks and revealed: horseshoe kidney and localized hypertrichosis on the lower back. CASE N 3: Ultrasound exam at 24 weeks of gestation demonstrated localized hypertrichosis on the chin. CONCLUSION: Transient localized hypertrichosis with no other major findings has a favorable prenatal outcome.
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http://dx.doi.org/10.1016/j.ejogrb.2021.12.008 | DOI Listing |
Br J Dermatol
January 2025
Department of Dermatology, The Children's Hospital of Fudan University, Shanghai, China.
Int J Surg Case Rep
November 2024
Department of Neurosurgery, Tartous University, Tartous, Syrian Arab Republic.
Seizure
October 2024
Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.
Introduction: Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described worldwide and still little is known about epileptic phenotype in KCNK4-related disease.
View Article and Find Full Text PDFHeliyon
July 2024
Department of Dermatology, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.
Introduction: Membranous aplasia cutis congenita (MACC) is the most common clinical subtype of aplasia cutis congenita (ACC). It is typified by a localized skin lesion devoid of hair and features a membranous surface. While most MACC individuals do not present with concurrent abnormalities, it can sometimes co-occur with additional physical anomalies and various malformation syndromes.
View Article and Find Full Text PDFFront Genet
April 2024
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis, Tunisia.
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