research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
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540-570 / 1000+ resultsresearch An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia
Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
research Modelling androgen synthesis and action during human sexual differentiation
Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
research Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report
Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
research A rare case of complete Vogt-Koyanagi-Harada disease presenting to a tertiary care hospital in late stage: Clinical features, diagnosis, and management
A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Urinary steroids in women with androgenic alopecia
Women with hair loss had higher levels of certain hormones, suggesting a link to a condition like PCOS.
research Θειική δεϋδροεπιανδροστερόνη, αντίσταση στην ινσουλίνη και εκτίμηση του όγκου των ωοθηκών σε Ελληνίδες με σύνδρομο πολυκυστικών ωοθηκών (PCOS)
Higher DHEA-S levels are linked to smaller ovarian volume in women with PCOS.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Diagnosis of hyperandrogenism: Biochemical criteria
The document concludes that accurate measurement of serum androgens is crucial for diagnosing hyperandrogenism.
research Idiopathic hirsutism: excessive bodily and facial hair in women
Idiopathic hirsutism causes excessive hair growth in women, can be treated with medication and hair removal, but cannot be fully reversed.
research Diagnostic Challenges in Ovarian Hyperthecosis: Clinical Presentation with Subdiagnostic Testosterone Levels
Ovarian hyperthecosis can cause symptoms even with normal testosterone levels, and surgery can improve these symptoms.
research Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research Predominant expression of 5 alpha-reductase type 1 in pubic skin from normal subjects and hirsute patients.
The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
research 11-oxyandrogen Concentrations in Adolescents With Polycystic Ovary Syndrome (PCOS)
Adolescents with PCOS have higher levels of certain androgens, which are linked to hair growth but don't help diagnose PCOS better than testosterone levels.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Human type 3 5α-reductase is expressed in peripheral tissues at higher levels than types 1 and 2 and its activity is potently inhibited by finasteride and dutasteride
Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Regulation of the metabolic phenotype of human hepatocytes by glucocorticoids and androgens
Glucocorticoids reduce fat production in liver cells, while androgens increase it in females; manipulating certain enzymes can influence these effects.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Fifteen-minute consultation: Approach to the adolescent presenting with hirsutism
Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
research Hidradenitis secondary to nirogacestat, a recently approved desmoid tumor medication
Nirogacestat can cause severe skin issues like hidradenitis suppurativa.
research Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental?
Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.