research The Charnoly body as a universal biomarker of cell injury
Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.
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research Antioxidants and Mitochondrial Bioenergetics
Antioxidants may help improve mitochondrial health and could be used to treat diseases related to cell damage.
research Circle hairs involving the extremities in a young girl
Circle hairs are harmless, spiral-shaped body hairs that don't need medical treatment.
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 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 Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Folliculosebaceous Cystic Hamartoma with Spindle Cell Lipomatous and Neural Components
A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.
research Epidermal cyst containing numerous spherules of keratin
The cyst had unusual keratin spherules and resembled bone marrow.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
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.
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 Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Cryo-Electron Microscopy of Trichocyte (Hard α-Keratin) Intermediate Filaments Reveals a Low-Density Core
Trichocyte filaments have a low-density core and may include proteins for hair structure.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Acid phosphatase distribution in the wool follicle. III. Fate of organelles in keratinized cells
Keratinized wool cells still have some organelles like lysosomes and mitochondria.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research Trichilemmal carcinoma metastatic to parotid gland: First report of fine needle aspiration cytology features
Trichilemmal carcinoma can spread to the parotid gland and be diagnosed using fine-needle aspiration cytology.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Horn With Miliary Calcification in Squamous Cell Carcinoma
A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.