A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China [PDF]
Frontiers in Physiology, 2023 Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4.
Bei Zhao +8 more
doaj +2 more sources
Hypotrichosis with juvenile macular dystrophy [PDF]
International Journal of Trichology, 2018 Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin.
Almeida, FT +3 more
openaire +5 more sources
Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review [PDF]
Human GenomicsBackground Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene.
Yujing Zhang +7 more
doaj +2 more sources
Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree [PDF]
Frontiers in GeneticsAutosomal recessive woolly hair/hypotrichosis (ARWH) is a rare inherited hair disease. In this study, we report a 31-year-old Chinese female with the characteristic clinical features of woolly hair and hypotrichosis. Through whole-exome sequencing (WES),
Xinyue Zhang +8 more
doaj +2 more sources
Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report [PDF]
Frontiers in PediatricsBackgroundLanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. LSS gene variants have been associated with various conditions such as congenital hypotrichosis and cataracts, but the genotype ...
Linlin Bao +5 more
doaj +2 more sources
Hereditary hypotrichosis simplex of the scalp
Indian Journal of Dermatology, 2014 Hereditary hypotrichosis simplex of the scalp is a genetic disorder, characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities.
Hamideh Moravvej-Farshi +2 more
doaj +3 more sources
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene. [PDF]
Mol Genet Genomic Med, 2023 Tan Y +5 more
europepmc +3 more sources
Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report [PDF]
Frontiers in MedicineObjectiveTo report the clinical characteristics of a case of Autosomal recessive woolly hair/ hypotrichosis(ARWH/HT, OMIM:278150/604379) in a child, analyze and identify the causative gene and mutation site.
Ying Xie +13 more
doaj +2 more sources
Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity [PDF]
Clinical, Cosmetic and Investigational DermatologyAhmed H Nouh,1 Fatma M Elgendy,2 Fatma A Gobran,3 Maryna S Zhuravlova4 1Al-Azhar University, Faculty of Medicine, Department of Dermatology, Venereology and Andrology, Cairo, Egypt; 2Ain Shams university, Faculty of medicine, Department of Pathology ...
Nouh AH +3 more
doaj +2 more sources