research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
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840-870 / 1000+ resultsresearch Alopecia Areata Barbae in a Nutshell
Beard alopecia areata causes patchy beard hair loss, often treatable with janus kinase inhibitors.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Immunofluorescent localization of collagen types I, III and IV, fibronectin, laminin, and basement membrane proteoglycan in developing mouse skin
research Mechanisms of Submucosal Gland Morphogenesis in the Airway
LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Smad1 and 5 but Not Smad8 Establish Stem Cell Quiescence Which Is Critical to Transform the Premature Hair Follicle During Morphogenesis Toward the Postnatal State
Smad1 and Smad5 are essential for hair follicle development and stem cell sleepiness.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Hair trace elementary profiles in aging rodents and primates: links to altered cell homeodynamics and disease
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Hair Loss in a Young Child
research Smad7-Induced β-Catenin Degradation Alters Epidermal Appendage Development
Too much Smad7 changes skin and hair development by breaking down a protein called β-catenin, leading to more oil glands and fewer hair follicles.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
Reduced AR gene methylation may cause early pubic hair growth in girls.
research Jak inhibitors in the treatment of alopecia areata - a literature review
Oral JAK inhibitors show promise for treating alopecia areata but have challenges like relapse and side effects.