research Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup
The case shows the difficulty in diagnosing certain conditions when standard tests are negative.
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510-540 / 1000+ results research Bilateral circumscribed haemangioma of the choroid not associated with systemic vascular syndrome
Intralesional cidofovir might be a good alternative treatment.
research Telogen effl uvium as the fi rst symptom of Crohn's disease in a child
Hair loss can be an early sign of Crohn's disease in children.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Das Cushing-Syndrom im Spiegel der Haut
Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Cyclophosphamide: As bad as its reputation? Long-term single centre experience of cyclophosphamide side effects in the treatment of systemic autoimmune diseases
Cyclophosphamide has serious side effects, but long-term follow-up can help manage risks.
research Chronic graft versus host disease and skin
cGVHD often severely affects the skin, causing rapid aging and other issues.
research Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
research Invasive giant pituitary macroadenoma causing Cushing disease; a case report
Giant pituitary macroadenomas causing Cushing disease are rare and may need extra treatment if surgery fails.
research AN UNUSUAL CASE OF LYMPHOCYTIC ENTEROCOLITIS AND VASCULITIS AS THE INITIAL MANIFESTATION OF SLE
SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
research A Case Report of Cushing’s Disease Presenting as Hair Loss
Hair loss led to the diagnosis of Cushing's disease in a patient, showing that hair loss can be a sign of hormonal disorders.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
research Letters to the Editor
A gluten-free diet resolved a girl's symptoms, revealing undiagnosed Coeliac disease as the cause.
research Commentary: Darier-White Disease
The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism
Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
research Skin in Systemic Disease
Skin problems can indicate different diseases inside the body.
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Calcinosis Cutis in a Patient With Systemic Lupus Erythematosus: A Case Report
Early diagnosis and treatment of calcinosis cutis in lupus patients is crucial due to its rarity and potential complications.
research An Interesting Case of Cushing Syndrome
Stopping steroids and providing supportive care improved the patient's Cushing Syndrome symptoms and ulcers.