research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
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research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Lymphocytic cicatricial alopecia: report of two cases
Early diagnosis and strong corticosteroids are crucial for managing lymphocytic cicatricial alopecia.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research HAIR-AN Syndrome: A Systematic Review of Clinical, Metabolic, and Hormonal Features in Women of Reproductive Age
HAIR-AN syndrome mainly affects obese women and can be improved with early diagnosis and treatment using insulin-sensitizing agents.
research Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research Frontal Fibrosing Alopecia: A Retrospective Analysis of 72 Patients from a German Academic Center
Combination therapy with steroids and pimecrolimus improved or stabilized hair loss in most patients with Frontal Fibrosing Alopecia, who also had a high rate of hypothyroidism.
research Frontal Fibrosing Alopecia and Increased Scalp Sweating: Is Neurogenic Inflammation the Common Link
Increased scalp sweating in frontal fibrosing alopecia may be linked to local skin inflammation.
research Arterielles popliteales Entrapment Syndrom (PAES) — ein Fallbericht zur Differentialdiagnose der Claudicatio intermittens
Popliteal Artery Entrapment Syndrome (PAES) is a rare but possible cause of leg pain during walking, even in untrained women.
research A Case Report of Granuloma Faciale of the Scalp Arising in the Setting of Advanced Androgenetic Alopecia With a Review of Extrafacial Granuloma Faciale Occurring on the Scalp
Granuloma faciale can occur on the scalp, especially in people with advanced hair loss, and may improve with treatment.
research Remission in Cushing disease with cabergoline
Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Antipsoriatic Activity of a New Synthetic Retinoid
The new synthetic retinoid RO 13-6298 effectively treated severe psoriasis at low doses with manageable side effects.
research Alopecia areata incognita in Cronkhite-Canada syndrome
The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
research Carotid Body Tumor: Review of the Literature and Report of a Case With a Rare Sensorineural Symptomatology
A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
research Refractory dermatomyositis–systemic lupus erythematosus overlap syndrome and response to tofacitinib
Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
research Early Diagnosis and Prompt Treatment Improves Quality of Life in Patients with Frontal Fibrosing Alopecia
Early diagnosis and quick treatment improve life quality for FFA patients.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.