research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
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570-600 / 1000+ resultsresearch Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
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 Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
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 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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 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 Epigenetic control of adult stem cell function
Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.
research Why Some Women Look Young for Their Age
Women look young for their age due to larger lips, less sun damage, and genes that prevent gray hair and wrinkles.
research Frontal fibrosing alopecia: a clinical review of 36 patients
Hydroxychloroquine effectively reduces symptoms of frontal fibrosing alopecia, especially in the first 6 months.
research Frontal fibrosing alopecia: clinical presentations and prognosis
FFA is more common in postmenopausal women, can affect younger women, and may stabilize over time.
research Frontal fibrosing alopecia: clinical and prognostic classification
Researchers found three patterns of Frontal fibrosing alopecia, with Pattern III having the best prognosis after treatment.
research Lonely Hair
Isolated long hairs at the original hairline can help diagnose Frontal Fibrosing Alopecia.
research HAIR LOSS IN WOMEN
Hair loss in women often doesn't follow a pattern, isn't linked to age, may be genetic, and can be related to thyroid issues or other health factors.
research Acute hair loss on the limbs in frontal fibrosing alopecia: a clinicopathological study of two cases
Frontal fibrosing alopecia can cause sudden hair loss on limbs, similar to scalp hair loss.
research Frontal Fibrosing Alopecia: A Review
Frontal Fibrosing Alopecia's cause is unclear, affects mainly postmenopausal women, and current treatments focus on stopping hair loss rather than regrowth.