research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
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research The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Non polycystic ovary syndrome–related endocrine disorders associated with hirsutism
Hirsutism can be caused by various conditions besides PCOS, and it's important to treat the underlying issue and manage symptoms with medication and cosmetic approaches.
research Clinical and Hormonal Evaluation of Androgen Excess
Most cases of high male hormone levels in women are due to polycystic ovary syndrome.
research A case of dyschromatosis universalis
Patients with SLE experienced non-scarring hair loss with fewer hair follicles, and DIF did not help identify lupus.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research PRIDE syndrome with lumbosacral hypertrichosis
EGFR inhibitors can cause unusual localized hair growth.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Single-Cell RNA Sequencing Reveals Cellular and Transcriptional Changes Associated With M1 Macrophage Polarization in Hidradenitis Suppurativa
Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
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 Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research 7745 Hirsutism in young girls, Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Facial hidradenitis suppurativa: A potential mimicker of acne vulgaris
Facial hidradenitis suppurativa can be mistaken for acne but requires different treatment.
research Hidradenitis suppurativa: A practical review of possible medical treatments based on over 350 hidradenitis patients
Different treatments for Hidradenitis suppurativa range from antibiotics and hormonal therapies to surgery, depending on severity.
research Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
Hairy elbows may be linked to short stature, but the exact cause is unclear.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research A study on the clinical and hormonal profile of patients with hirsutism
The conclusion is that PCOS is a common cause of hirsutism in young obese women, and early treatment is important to reduce the risk of metabolic syndrome.
research Naevus Comedonicus Syndrome Complicated by Hidradenitis Suppurativa-like Lesions Responding to Acitretin Treatment
Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
research Botulinum toxin type A for the management of hidradenitis suppurativa.
Botulinum toxin type A injections may help treat hidradenitis suppurativa.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research CSF 5-HIAA as a predictor of treatment response in trichotillomania.
Higher CSF 5-HIAA levels may predict better response to serotonin re-uptake inhibitors in trichotillomania.