research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
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research Sex hormones and sarcopenia in older persons
Sex hormone treatments can increase muscle mass in older adults but have inconsistent effects on muscle function and may carry cardiovascular risks.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case*
A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Prenatal transplantation of epidermal neural crest stem cells in malformation of cortical development mouse model
EPI-NCSCs from hair follicles may help treat brain development issues in mice.
research Нарушения фосфорно-кальциевого обмена у детей с хронической болезнью повек
Early phosphorus-calcium disorders in children with chronic kidney disease can lead to bone issues, highlighting the need for early bone density testing.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Pediatric Radiation-Induced Alopecia Post Intracranial Vascular Malformation Embolization: A Case Report with Dermoscopic Findings
A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Pengaruh Pemberian Human Bone Marrow Mesenchymal Stem Cell Terhadap Gambaran Mikroskopis Jaringan Adneksa Pada Kulit Tikus Luka Bakar Diabetes Melitus
Human bone marrow stem cells increased skin tissue growth in diabetic rats with burns, but not significantly.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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 Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Epidermal Choristoma of the Oral Cavity: Report of 2 Cases of an Extremely Rare Entity
research Atypical folliculitis caused by Malassezia spp. in immunosuppressed patients
Some immunosuppressed patients can get unusual skin infections from Malassezia, which can be treated with antifungal medication.
research A novel fracture lattice in spiny mouse skin facilitates tissue autotomy and regeneration
Spiny mice have a unique skin structure that helps them heal and regenerate quickly.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research [Monilethrix--rare syndrome of structural hair abnormalities].
Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.