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.
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research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Severe Hyperandrogenism in A Premenopausal Woman With An Imaging-Negative Leydig Cell Tumor
A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Remarks on the Hormonal Background of the Male Equivalent of Polycystic Ovary Syndrome
Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research COVID-19 and hypopituitarism
COVID-19 and hypopituitarism (reduced pituitary gland function) are linked, with the latter's related health issues potentially worsening COVID-19 outcomes, and COVID-19 possibly increasing risk for pituitary complications.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research Experimental Production of Cutaneous Calcinosis and Sclerosis with Dihydrotachysterol (AT-10) 1
Giving dihydrotachysterol to mother rats caused skin hardening and bone issues in their babies through milk.
research 7745 Hirsutism in young girls: Beyond PCOS
Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
research Semaglutide-associated worsening of atypical anorexia nervosa in an adolescent girl: case report
Semaglutide may worsen eating disorders in vulnerable individuals.
research Short anagen syndrome in an African American woman
A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
research Zinc deficiency associated with hypothyroidism: An overlooked cause of severe alopecia
Zinc supplements may be needed to treat hair loss in hypothyroidism.
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 Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Inhibition of hair growth by subcutaneous injection of a sympathetic neurotoxin, 6-hydroxydopamine in neonatal mice
Injecting 6-OHDA in newborn mice delays hair growth and thins skin.
research Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental?
Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
research [Hypothyroidism and hyperprolactinemia as a possible cause of androgenetic alopecia in the female].
Hypothyroidism and hyperprolactinemia may cause hair loss in women.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
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.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Rickets with alopecia-remission following a course of 1-?-hydroxy vitamin D3 therapy
Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.