research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
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research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Androgenetic Alopecia as a Marker of Metabolic Syndrome
Balding in men might indicate a higher risk of metabolic health issues.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research 52243 AH-001: An Emerging Androgen Receptor Degrader Showing Therapeutic Potential in Addressing Androgenetic Alopecia (AGA)
AH-001 could be a safer and more effective treatment for hair loss.
research Allosteric interactions prime androgen receptor dimerization and activation
Certain interactions help prepare the androgen receptor for pairing and activation, which is important for its role in development and disease.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Hirsutism among Women Attending Al-Yarmouk Teaching Hospital, (Clinical and Investigative Study)
Hirsutism is common among Iraqi women, often without a known cause, but family history is significant.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Bidirectional association between alopecia areata and migraine: A nationwide population-based cohort study
People with alopecia areata are more likely to get migraines, and vice versa.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
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 Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Diagnosis of hyperandrogenism: clinical criteria
The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer
Hair loss gene linked to prostate issues.
research 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis
Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research The Frontal Fibrosing Alopecia Syndrome: How a Single Word Name Change Might Change So Much
Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Wanita dengan Sindrom Rupus : Lupus Eritematosus Sistemik dan Artritis Reumatoid
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia
The androgen receptor gene doesn't help identify women likely to have female pattern hair loss.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Should we consider alternative therapies to operative hysteroscopy for the treatment of Asherman syndrome?
Operative hysteroscopy is still the main treatment for Asherman syndrome, but more research is needed on post-surgery methods.