research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
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research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Differential cutaneous wound healing in thermally injured MRL/MPJ mice
MRL/MpJ mice heal burns slower with more scarring and less tissue regeneration than BALB/c mice.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Cutaneous Manifestations of Endocrine Disease
Endocrine diseases in children can cause various skin and hair changes.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research The effects of sodium metasilicate on the spinal motoneuron recovery following sciatic nerve injury
Sodium metasilicate improved spinal motoneuron recovery after sciatic nerve injury in rats.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Intradermal Injection of Bleomycin Shows Preliminary Evidence of Dermal Fibrosis in a Mouse Model
Bleomycin injections in mice cause skin thickening and hair loss.
research The use of dermoscopy in a case of nevus sebaceous misdiagnosed and treated as cicatricial alopecia
Dermoscopy helped correctly diagnose a skin condition that was previously misidentified as a different hair loss disease.
research Skin Signs as the Presenting Manifestation of Severe Nutritional Deficiency
Severe nutritional deficiency can cause serious health and development issues, including skin problems and hair loss.
research Misdiagnosed dermatophytosis
Misdiagnosed skin infections led to ineffective treatments and serious complications.
research Clinical monitoring of an orphaned wild Bosnian mountain horse foal: A case report
The orphaned foal stayed healthy despite challenges, showing the need for thorough health checks.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
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 Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Giant congenital cerebriform pigmented nevus of scalp: case report
Complete removal of large scalp nevi is recommended to prevent complications.