research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
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420-450 / 1000+ resultsresearch Scalp hair 17‐hydroxyprogesterone and androstenedione as a long‐term therapy monitoring tool in congenital adrenal hyperplasia
Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
research Hospitalists for the NHS
Antiandrogen therapy may help treat hidradenitis suppurativa.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
research Lack of the Vitamin D Receptor is Associated with Reduced Epidermal Differentiation and Hair Follicle Growth
Vitamin D Receptor is crucial for normal skin and hair growth.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research [Hirsutism].
Hirsutism, excessive male-pattern hair in women, can be caused by high androgens or skin sensitivity, diagnosed by testosterone levels, and treated with hair removal and hormone therapy.
research Androgenic alopecia and hirsutism in a 73-year-old woman: careful re-evaluation of 'normal' imaging findings may lead to a rare diagnosis
A 73-year-old woman's unusual hair loss and growth led to the discovery of a rare condition causing too much testosterone, which improved after her ovaries were removed.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Hirsutism, Male Pattern Baldness, and Acne in a 60-Year-Old Woman
Ovarian hyperthecosis caused high testosterone and virilization symptoms in a 60-year-old woman, which improved after surgery.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Overexpression of Hedgehog Signaling Is Associated with Epidermal Tumor Formation in Vitamin D Receptor–Null Mice
Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research SUN-376 Isolated DHEA-S Production by an Adrenal Neoplasm: Clinical, Biochemical, and Pathologic Findings
A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Post-partum pituitary insufficiency and livedo reticularis presenting a diagnostic challenge in a resource limited setting in Tanzania: a case report, clinical discussion and brief review of existing literature
Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
research UPDATE ON IDIOPATHIC HIRSUTISM: DIAGNOSIS AND TREATMENT
The document concludes that combination therapy is most effective for treating excessive hair growth in women with idiopathic hirsutism, and more research is needed to understand the condition.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.