Results 21 to 30 of about 5,312 (215)
Pharmaceuticals, 2023 Hypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme.
Hamza Ali Khan +11 more
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The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
Molecular Genetics & Genomic Medicine, 2021 Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P‐cadherin. Here, we report two Japanese sibling patients with HJMD.
Takaaki Hayashi +7 more
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Hypotrichosis with keratosis pilaris: a case report and review of literature
Al-Azhar Assiut Medical Journal, 2017 Hypotrichosis or sparse hair is a relatively common feature of several hereditary syndromes. Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology.
Ayman M Mahran +3 more
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X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
Animals, 2021 X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a
Donal O’Toole +7 more
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Clinical and genetic aspects of a child with monilethrix and visual rehabilitation
Indian Journal of Ophthalmology. Case Reports, 2022 Monilethrix is a rare genodermatosis, presented to us with predominant ocular manifestations. The affected proband was typically characterized by severe photophobia, defective vision, and hypotrichosis with brittle and stubby hair. Here, we report a rare
Monisha Mohan +4 more
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Monilethrix: A rare case diagnosed by dermoscopy
Indian Journal of Paediatric Dermatology, 2020 Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani +3 more
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Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
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Christ siemens touraine syndrome: A rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari +2 more
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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
Molecular Genetics & Genomic Medicine, 2022 Background Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes ...
Cheng Zhou +10 more
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Minoxidil a Youth Elixir for Eyebrow Hypotrichosis [PDF]
Journal of Clinical and Diagnostic Research, 2020 Introduction: Eyebrows being prominent feature of the face contributes majorily for aesthetics. Eyebrow hypotrichosis means the reduction or absence of the eyebrow hair. This is associated with negative self-esteem. Minoxidil has been found to act at the
Varsha Gajbhiye, Yeshwant Lamture
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