research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
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690-720 / 1000+ results research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Polycystic Ovary Syndrome: A Complex Interplay of Hormones and Metabolism
PCOS involves hormonal and metabolic issues, increasing risks for diabetes and heart disease, and requires lifestyle changes and medication for management.
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 Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Comparison of Levels of Androgenic Hormones in various Phenotypes of Polycystic Ovarian Syndrome in High School Girls aging 14 to 18 Years
Girls with PCOS and menstrual disorders have notably higher androgen hormone levels.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
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 Insulin resistance and its relationship with high molecular weight adiponectin in adolescents with polycystic ovary syndrome and a maternal history of polycystic ovary syndrome
Teens with PCOS and a mom with PCOS have higher insulin resistance and lower adiponectin levels, which could signal early metabolic problems.
research Dyslipidaemia in women with polycystic ovary syndrome referred to a teaching hospital in Cape Town, South Africa
Many women with PCOS have abnormal cholesterol levels, needing careful management.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Síndrome de ovario poliquístico
PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
research Landing Eyes on Unnoticed Disorder: A Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
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.