research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
Search
for
Sort by
Research
840-870 / 1000+ results research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Dupilumab and alopecia: A Janus effect
Dupilumab can both heal and cause hair loss.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research SUN-380 A Case of Cushing Syndrome
A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.
research Dupilumab side effect in a patient with atopic dermatitis: a case report study
Dupilumab can cause rare side effects like a rash on the face and neck.
research Dupilumab Induced Hair Regrowth in Alopecia Totalis
Dupilumab may help regrow hair in people with severe alopecia.
research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
Intralesional cidofovir may be a viable treatment for conjunctival lesions in Melkersson-Rosenthal syndrome without systemic toxicity.
research Skin signs in anorexia nervosa
Anorexia nervosa can cause skin problems, which may help with early diagnosis and usually improve with treatment.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Pyoderma gangrenosum presented as generalized pustules in a patient with Crohn’s disease
Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Case report: Dermatosis neglecta mimicking pemphigus foliaceus in association with obsessive–compulsive disorder
Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research SnapshotDx Quiz: August 2016
Balding scalps show different gene expressions affecting hair growth compared to non-balding scalps.
research Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA
The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Androgenetic Alopecia and Metabolic Syndrome: Is Alarin a Missing Link?
Higher alarin levels might link hair loss and metabolic syndrome.