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Marie-Unna Hereditary Hypotrichosis
International Journal of Trichology, 2014 Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Srinivas, Sahana M, Hiremagalore, Ravi
openaire +3 more sources
Genes, 2021 Genodermatosis such as hair disorders mostly follow a monogenic mode of inheritance. Congenital hypotrichosis (HY) belong to this group of disorders and is characterized by abnormally reduced hair since birth.
T. Kuca +6 more
semanticscholar +1 more source
Ectodermal dysplasia: Report of two cases in a family and literature review
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi +3 more
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Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of Mashhad Dental School, 2020 Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad +2 more
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Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]
, 2018 Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária +4 more
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Additional causal SNRPE mutations in hereditary hypotrichosis simplex
British Journal of Dermatology, 2021 Hereditary hypotrichosis simplex (HHS) refers to a group of monogenic isolated alopecias that are characterized by a diffuse and progressive loss of scalp and/or body hair, and which commence in childhood and progress with age.
C. Pan +15 more
semanticscholar +1 more source
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genetics, 2020 Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada +18 more
doaj +1 more source
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]
, 2016 IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G +11 more
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Despite the hair failing, nails thrive…
Indian Journal of Paediatric Dermatology, 2017 Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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