research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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180-210 / 1000+ results research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Lonely Hair
Isolated long hairs at the original hairline can help diagnose Frontal Fibrosing Alopecia.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Glabellar clinical and trichoscopic findings in patients with frontal fibrosing alopecia
Frontal fibrosing alopecia can be diagnosed by examining facial areas and treated with specific medications to stop its progression.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research The increasing incidence of frontal fibrosing alopecia. In search of triggering factors
Various potential triggers may be causing the rise in frontal fibrosing alopecia, and avoiding these could help stop the disease's increase.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Frontal fibrosing alopecia: clinical presentations and prognosis
FFA is more common in postmenopausal women, can affect younger women, and may stabilize over time.
research Early leonine facies with alopecia in a young man
A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Coexistent frontal fibrosing alopecia with ophiasis pattern alopecia areata in a young female: A case report and review of the literature
Recognizing rare hair loss patterns in young females can improve understanding and treatment.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Rancangan televisyen: Menyangga atau menyanggah bahasa dan budaya?
The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.