research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
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30 / 1000+ resultsresearch X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
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 Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Poster Presentations
Hair disorders are complex and varied, with diverse treatments available.
research Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Hair Loss in Children
Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
research Disorders of hair
The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Hair Disorders
Different hair disorders have specific treatments and outcomes, with some resolving on their own and others requiring medication or emotional support.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research SAÚDE MENTAL DA EQUIPE DE ENFERMAGEM NO CONTEXTO DA PANDEMIA COVID19
Nursing staff's mental health was affected during the COVID-19 pandemic.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
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 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 Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research The Role of Zinc in Gastrointestinal and Liver Disease
Zinc is vital for health, and its deficiency can worsen gastrointestinal and liver diseases.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.