research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
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research A CASE REPORT ON POLYCYSTIC OVARY SYNDROME WITH METABOLIC COMPLICATIONS
Early recognition and comprehensive management of PCOS can prevent long-term health issues.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research A CASE REPORT ON POLYCYSTIC OVARY SYNDROME WITH METABOLIC COMPLICATIONS
Early recognition and comprehensive management of PCOS can prevent long-term health issues.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
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 Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Acute chylous peritonitis due to idiopathic pancreatitis mimicking acute appendicitis
A man thought to have appendicitis actually had a rare pancreas-related condition.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research A SIBO-mediated aetiology for a subset of Post-Finasteride Syndrome cases: investigating gut-derived toxins
Gut bacteria overgrowth may cause some Post-Finasteride Syndrome symptoms.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research The Evidence for Microbes in the Small Intestine as the Mechanism for Post-Finasteride Syndrome: Self-Reported Case Study
Microbes in the small intestine may cause Post-Finasteride Syndrome symptoms.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research POLYCYSTIC OVARY SYNDROME: EXPLORING THE ICEBERG OF A LIFELONG SYSTEMIC DISORDER
PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.