research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
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research AB023. An atypical clinical presentation of alopecia in two patients with systemic lupus erythematosus
Two patients with lupus had an unusual type of hair loss not typical for the disease.
research 50832 Confetti variant of Alopecia Areata: A Single Center Retrospective Study to Describe a Novel Entity
A new type of alopecia areata, called the "confetti variant," causes small bald spots that often heal on their own in a few months.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Relapsing Course of Sulfasalazine-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Complicated by Alopecia Universalis and Vitiligo
Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
research Adiponectin serum levels and ADIPOQ (rs2241766) polymorphism in alopecia areata Egyptian patients
Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Contemporaneous onset of systemic lupus erythematosus and severe eating disorder; neither the chicken nor the egg
Hormonal changes and social stress may link lupus and eating disorders in teens.
research Clinical case of alopecia totalis in pediatric practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Efficacy and tolerability of azathioprine for neuromyelitis optica spectrum disorder: A systematic review and meta-analysis
Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Alopecia Areata Incognita
Alopecia areata incognita causes sudden hair thinning, responds well to steroids, and is more common in those with genetic hair loss conditions.
research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
Zinc supplements effectively treat inherited zinc deficiency in infants.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research P133 Late onset loose anagen syndrome
Adults can develop late-onset loose anagen syndrome, which may often be misdiagnosed.
research Nemolizumab Treatment for Severe Atopic Dermatitis Led to the Simultaneous Improvement of Coexisting Refractory Alopecia Areata: A Case Report
Nemolizumab improved both severe atopic dermatitis and alopecia areata in one patient.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Reversible Anagen Effluvium Induced by Azathioprine: A Rare Adverse Effect Case Report
Stopping azathioprine led to full hair regrowth and recovery in 2.5 months.