research Cutaneous alternariosis in a patient with idiopathic pulmonary fibrosis
A 78-year-old farmer with lung disease had skin lesions from a fungal infection that healed completely with medication.
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research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
research Repair of a Deep Proximal Thumb Defect
research Successful Treatment of Refractory Alopecia Areata Universalis and Psoriatic Arthritis, But Not of Plaque Psoriasis with Tofacitinib in a Young Woman
Tofacitinib helped a young woman's severe hair loss and arthritis but not her plaque psoriasis.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 1 approved]
Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Erosive pustular dermatosis of the scalp: challenges and solutions
Early treatment of EPDS can improve outcomes and reduce recurrence risk.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Generalized granuloma annulare: A therapeutic challenge. Our experience in 12 patients
Treating generalized granuloma annulare is difficult, with PUVA being the most effective option, but relapses are common.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Frontal fibrosing alopecia: treatment with oral dutasteride and topical pimecrolimus
Oral dutasteride and topical pimecrolimus can safely and effectively treat Frontal Fibrosing Alopecia, leading to significant hair regrowth.
research The spectrum of inflammatory skin disease following jejuno-ileal bypass for morbid obesity
Some patients developed skin inflammation after obesity surgery, and a medication called dapsone helped treat it.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Leucocytoclastic vasculitis as onset symptom of ulcerative colitis
A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research P368 Rare skin disorders in IBD patients treated with anti-TNFs
Some IBD patients on anti-TNFs developed severe skin issues, but ustekinumab helped.
research Development of Alopecia Areata Universalis in a Patient Receiving Adalimumab
Adalimumab may cause severe hair loss in some patients.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research From joint pains to hair gains: baricitinib’s double duty for rheumatoid arthritis and alopecia areata
Baricitinib effectively treats both rheumatoid arthritis and alopecia areata.
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.
research Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.