research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
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900-930 / 1000+ resultsresearch Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Secondary Neoplasm Arising in Nevus Sebaceus of Jadassohn: A Case Report Emphasizing Early Recognition and Evaluation
Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Post-finasteride syndrome and post-SSRI sexual dysfunction: two sides of the same coin?
PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Diffuse plate-like sheets of desquamation
The rash resolved after stopping ponatinib.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
research Reply to: ‘Severe diffuse non-scarring hair loss in systemic lupus erythematosus - clinical and histopathological analysis of four cases’
The document suggests that severe hair loss in SLE patients may be an early sign of scalp DLE, treatable with immunosuppressive therapy.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Areata-Like Lupus as a Clinical Manifestation of Cutaneous Lupus Erythematosus
Areata-like lupus can mimic alopecia areata but is a form of cutaneous lupus erythematosus.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.
research Poliosis circumscripta: Overview and underlying causes
Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Leprosy on the scalp
A man from Brazil had a rare case of leprosy on his scalp, which improved with treatment.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Glia-derived steroids modulate epileptogenesis in a model of temporal lobe epilepsy
Neurosteroids from glia cells help control seizure development in epilepsy.
research Serial Excision Technique to Reduce Cicatricial Alopecia
Serial Excision Technique improves appearance and quality of life for cicatricial alopecia patients.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Systemic-Onset Juvenile Idiopathic Arthritis with unusual Cutaneous Manifestation and peripheral eosinophilia: Case Report
Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
research TRIMETHOPRIM-INDUCED ASEPTIC MENINGITIS
Trimethoprim-sulfamethoxazole can cause aseptic meningitis.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research MANAGEMENT OF SCABIOSIS WITH ANCYLOSTOMIOSIS IN LOCAL BREED PUPPY
The treatment was effective for the puppy's skin and intestinal infections.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.