research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
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540-570 / 1000+ resultsresearch Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Hormonal and Genetic Controls of Hirsutism: Link Between hyperprolactinemia, Polycystic ovary syndrome and Hirsutism
Hormones, genes, and oxidative stress interact to cause hirsutism and PCOS.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Mycophenolate mofetil as an alternative treatment for autoimmune hepatitis
Mycophenolate mofetil can effectively treat autoimmune hepatitis when standard drugs fail.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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 Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Serum Ferritin Level and Alopecia Areata in Pediatric Patients
Low serum ferritin levels are linked to more severe and longer-lasting alopecia areata in children.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Decreased Serum Ferritin and Alopecia in Women
Low serum ferritin levels are linked to hair loss in women.
research LUNG IS A BATTLEFIELD: DIFFUSE ALVEOLAR HEMORRHAGE IN ANTIPHOSPHOLIPID SYNDROME
Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
research Association of Low Serum Ferritin Level with Non-Scarring Alopecia in Women from Punjab, Pakistan
Low serum ferritin is linked to hair loss in women.
research Risk of ovarian hyperstimulation syndrome in infertile patients with PCOS treated by HP HMG
Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research The assessment of knowledge and awareness about iron deficiency anemia among the population of Riyadh province
More awareness and education on iron deficiency anemia are needed in Riyadh.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Serum Ferritin Levels amongst Individuals with Androgenetic Alopecia in Ile-Ife, Nigeria.
People with early onset hair loss (Androgenetic Alopecia) in Ile-Ife, Nigeria, have significantly lower iron levels compared to those with adult-onset hair loss.
research Prevalence of polycystic ovaries in women with self-reported symptoms of oligomenorrhoea and/or hirsutism: Northern Finland Birth Cohort 1966 Study
Women with irregular periods and/or excessive body hair are more likely to have polycystic ovaries, and this condition is linked to higher health risks.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research A study of clinical and investigational profile of hirsute women at a tertiary care center in Western India
Idiopathic hirsutism is the most common cause of hirsutism in women, followed by PCOS.
research The Significance of Serum Ferritin and vitamin D Levels in Females Patients with Chronic Telogen Effluvium
Low levels of iron and vitamin D might be linked to chronic hair loss in women.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Serum ferritin and hair iron content in correlation to hair diameter and density: a case-control study
Hair iron levels might help increase hair thickness in early hair loss.
research Serum Iron, Zinc, and Copper Concentration in Premature Graying of Hair
Low copper levels might cause premature graying of hair.