research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
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720-750 / 1000+ results research Patient experience in systemic lupus erythematosus: development of novel patient-reported symptom and patient-reported impact measures
New tools were created to help lupus patients report their symptoms and impacts more accurately.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Polycystic Ovarian Syndrome Elevates the Distress of Sexual Pain in Iranian Women with Infertility
PCOS increases sexual pain distress in infertile women.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Skin Manifestations of Rheumatological Diseases
Different rheumatological diseases can cause specific skin problems.
research Assessment of chemokines MIP-1α and MIP-1 βin Iraqi women with polycystic ovarian syndrome
PCOS is linked to low-grade chronic inflammation.
research 54767 Involvement of Calcinosis Cutis in Autoimmune Connective Tissue Diseases
Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study
Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
research Interações entre malassezia restricta e o micobioma humano: uma perspectiva abrangente
Malassezia restricta may be linked to intestinal diseases like Crohn's and ulcerative colitis.
research Polycystic Ovary Syndrome-Associated Acne: The Interplay of Hyperandrogenism, Insulin Resistance, and Therapeutic Strategies
PCOS-related acne can be managed by targeting hormones and insulin resistance.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Hidradenitis suppurativa: A folliculotropic disease of innate immune barrier dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Repetitive Transcranial Magnetic Stimulation for Treatment of Trichotillomania: Case Series
rTMS may help treat trichotillomania in some patients.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Is polycystic ovarian syndrome and insulin resistance associated with abnormal uterine bleeding in adolescents?
Adolescents with abnormal uterine bleeding often have polycystic ovarian syndrome and insulin resistance.
research Bifidobacterium Is Enriched in Gut Microbiome of Kashmiri Women with Polycystic Ovary Syndrome
Women with PCOS have more Bifidobacterium in their gut compared to those without PCOS.
research Risk factors for intraoperative floppy iris syndrome: a retrospective study
Certain medications like α1-blockers, benzodiazepines, and finasteride increase the risk of floppy iris syndrome during cataract surgery.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Risk factors for the development of and outcomes after diagnosis of autoimmune alopecia areata in patients with inflammatory bowel diseases
IBD patients treated with TNF antagonists may develop autoimmune alopecia areata, with severe cases less likely to improve.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research P.6.028 Transnosography of impulsiveness:A comparison among different psychiatric disorders
Impulsiveness is common across various psychiatric disorders and linked to many psychological symptoms.
research Diagnosis dan Penanganan TB-IRIS Paradoksikal
Early detection, prevention, and proper management can reduce TB-IRIS complications and deaths in HIV patients.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.