research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
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780-810 / 1000+ results research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research Successful treatment of ulcerated infantile hemangioma associated with PELVIS syndrome using oral propanolol
Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Is sulfonamide group of tamsulosin main factor in the pathophysiology of floppy iris syndrome?
Tamsulosin's sulfonamide group may contribute to floppy iris syndrome.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
research The Case Files
Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research An unusual pattern of alopecia areatas
A man had an unusual type of hair loss that didn't match known patterns and didn't improve with treatment.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Hair Tissue Mineral Analysis and Metabolic Syndrome
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases
Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty
The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
research It's not all traction: the pseudo ‘fringe sign’ in frontal fibrosing alopecia
The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research 1300 Blood plasma levels of heart disease biomarker cardiac troponin I are significantly increased in alopecia areata affected individuals
People with alopecia areata have higher levels of a heart disease marker in their blood.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
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 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.