research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
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360-390 / 1000+ results research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Hair Metal Dysregulation in Parkinson's Disease: Implications for Diagnosis and Gut-Brain Axis Involvement
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Autism spectrum disorder with iodine deficiency hypothyroidism in a 6‐year‐old boy
A 6-year-old boy with autism improved his thyroid function and growth after addressing iodine deficiency caused by picky eating, but his psychiatric symptoms and picky eating continued.
research Pituitary-dependent hyperadrenocorticism in a cat
The cat had a pituitary tumor causing hormone imbalance and related health issues.
research S2594 Autoimmune Hepatitis Due to Para-Aminobenzoic Acid
Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
research Androgen excess disorders remain undiagnosed in one of every four premenopausal women with Type 1 diabetes
research 8800 A Case of Hypopituitarism Due to Sheehan Syndrome
Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research An (Ir)reversible Affection of the Sexual Sphere: A Case Report
Finasteride can cause long-lasting sexual dysfunction even after stopping the drug.
research Cutaneous polyarteritis nodosa presenting with digital gangrene and breast ulcer
A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
research Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses
Certain types of mucopolysaccharidoses cause significant hair abnormalities.
research Relapsing Course of Sulfasalazine-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Complicated by Alopecia Universalis and Vitiligo
Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Atrophying scamous papulous dermatitis (Degos disease): Nine years of follow-up
A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Mucin‐poor follicular mycosis fungoides
The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Skin manifestations of celiac disease
A gluten-free diet significantly improves skin and health issues in people with dermatitis herpetiformis, a skin condition linked to celiac disease.
research Frontal fibrosing alopecia: A new autoimmune entity?
Frontal Fibrosing Alopecia might be an autoimmune disease.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research BH03: Systemic sclerosis and frontal fibrosing alopecia: a novel combination of scarring alopecia
A woman with systemic sclerosis developed a unique scarring hair loss combining features of systemic sclerosis and frontal fibrosing alopecia.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.