research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
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900-930 / 1000+ resultsresearch Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Clinical Outcomes of Ritlecitinib in Treatment-Refractory Alopecia Areata: A Single-Center Real-World Study
Ritlecitinib effectively regrows hair in treatment-resistant alopecia areata with mild side effects.
research Case 21-2012
The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
research Mucocutaneous findings in pediatric patients with bone marrow transplantation
Skin and mucous membrane issues are common in kids after bone marrow transplants, so careful monitoring is crucial.
research Non-scarring Alopecia in Pemphigus Foliaceus
Rituximab treatment led to complete hair regrowth and improved skin in a woman with pemphigus foliaceus.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Updated Integrated Safety Analysis of Ritlecitinib up to ~5 Years in Adolescents With Alopecia Areata From the ALLEGRO Clinical Trials
Ritlecitinib is generally safe for adolescents with alopecia areata over 5 years.
research Fever, Maculopapular Rash and Severe Aphthous Stomatitis in a Renal Transplant Patient
The patient improved after antiviral treatment for a viral infection.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Successful Treatment of Extensive Ritlecitinib-Refractory Alopecia Areata with Upadacitinib
Upadacitinib effectively treated alopecia areata when other treatments failed.
research Efficacy of Ritlecitinib in Patients with Alopecia Areata by Extent of Hair Loss: Results from the Phase 2b/3 and Phase 3 ALLEGRO Clinical Trials
Ritlecitinib effectively promotes hair regrowth in severe and very severe alopecia areata.
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 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.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
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 Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Successful Treatment of Extensive Ritlecitinib-Refractory Alopecia Areata with Upadacitinib
Upadacitinib effectively treated alopecia areata when other treatments failed.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.