research Rumpel-Leede Phenomenon Associated with Pneumatic Compression: A Case Report
Pneumatic compression can cause skin bruising even in healthy individuals.
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research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Central trichoptilosis with onycholysis
Hair splitting and nail detachment are linked conditions.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
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 De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hair-Related Dysmorphic Disorder in a Patient with Bipolar Disorder
Treating both bipolar disorder and hair-related BDD with psychiatric medications improved the patient's symptoms.
research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
research Zfp462 deficiency causes anxiety‐like behaviors with excessive self‐grooming in mice
Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
research Chronische Thalliumintoxikation: Beobachtung einer kriminellen Vergiftung
A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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 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 Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Linear and Annular Lupus Panniculitis of the Scalp: Case Report with Emphasis on Trichoscopic Findings and Review of the Literature
LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
research Crusted plaques of the scalp after deep brain stimulation surgery
The patient's scalp plaques were caused by impetigo and successfully treated with antibiotics.
research Post-finasteride syndrome - a true clinical entity?
research A Case of Beau’s Lines at Even Intervals and Onycholysis Caused by Chemotherapy
Chemotherapy caused nail grooves and separation, but they healed after treatment stopped.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.