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.
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780-810 / 1000+ results research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
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 Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research BH21 Segmented heterochromia with calibre change: an under-recognized sign of alopecia areata
Segmented hair color changes can indicate active alopecia areata.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research A Localized Rash in a 3-Year-Old Child
The child was diagnosed with a skin condition involving inflamed hair follicles.
research Downregulation of mRNAs Encoding Keratin-Associated Proteins in the Tongue of Mice Fed a High-Fat Diet
A high-fat diet may weaken tongue structure by reducing certain protein genes.
research The combination of hair follicle-specific marker LHX2 and co-expressed marker can distinguish between sweat gland placodes and hair placodes in rat
LHX2, with other markers, can identify hair placodes in rats.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
research Ring-shaped Alopecia on the Scalp in a 3-month-old Infant
The infant's hair loss resolved naturally by 20 months without treatment.
research It's not all traction: the pseudo ‘fringe sign’ in frontal fibrosing alopecia
The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research Skin signs of nutritional disorders.
Malnutrition causes skin changes due to nutrient deficiencies.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Hedgehog Signaling in Papillary Fibroblasts Is Essential for Hair Follicle Regeneration during Wound Healing
Hedgehog signaling in certain cells is crucial for hair growth during wound healing.
research Hair metal dysregulation in Parkinson’s disease: Implications for diagnosis and gut-brain axis involvement
Hair metal analysis may help diagnose Parkinson's disease and suggests gut involvement.