research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Trichotillomania: behavioral symptom or clinical syndrome? [clinical conference]
Trichotillomania is a complex condition involving compulsive hair pulling that causes distress and hair loss.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Genetics Poly Cystic Ovary Syndrome
PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
research Remission in Cushing disease with cabergoline
Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
research Polycystic Ovary Syndrome and Cardiovascular Disease
PCOS increases the risk of heart disease and type 2 diabetes in women.
research Central centrifugal cicatricial alopecia – an approach to diagnosis and management
Diagnose and manage CCCA with thorough history, exams, and labs; treat with anti-inflammatory agents, stress reduction, and stopping harmful hair practices.
research Analysis of post-COVID symptoms and predisposing factors for chronic post-COVID syndrome
Many COVID-19 patients have long-term symptoms, especially women, but certain medications may help reduce these symptoms.
research Recurrent Central Serous Retinopathy with Permanent Visual Loss in a U.S. Naval Fighter Pilot
A U.S. Naval fighter pilot suffered permanent vision loss in one eye due to recurrent central serous retinopathy.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Association of breast and colorectal cancer in patients with central centrifugal cicatricial alopecia: A retrospective, cross-sectional pilot study
Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.
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 Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
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 STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.