research 083 Linear morphea with evidence of hair regrowth
Topical treatments led to hair regrowth in a man with linear morphea.
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720-750 / 1000+ results research Bilateral osteonecrosis of the femoral head associated with corticosteroid therapy for alopecia areata: a case report and review of the literature
Corticosteroid therapy for alopecia areata can cause severe hip bone damage.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Inhibition of neurosteroid synthesis increases asphyxia-induced brain injury in the late gestation fetal sheep
Reducing neurosteroid levels worsens brain injury in fetal sheep.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research ALTERAÇÕES MORFOLÓGICAS DA DOENÇA DE PARKINSON UTILIZANDO A RESSONÂNCIA MAGNÉTICA NUCLEAR
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review
Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.
research Successful treatment of palmoplantar pustular psoriasis with brodalumab
Brodalumab effectively treated a man's severe hand and foot psoriasis.
research Malassezia slooffiae‐associated dermatitis in a goat
A goat had skin issues caused by Malassezia slooffiae, marking the first known case in goats.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Demographic findings of patients diagnosed with pernio and comparison of their vitamin B12, folate and ferritin levels with a control group
Patients with pernio have lower vitamin B12 and ferritin levels than healthy people.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Erosive pustular dermatosis of the scalp following topical ingenol mebutate for actinic keratoses
Two elderly men developed scalp inflammation after using a gel for skin lesions, which healed with treatment except for some permanent hair loss.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Anterolateral leg alopecia: unknown entity or yet underreported?
Anterolateral leg alopecia is a benign, nonprogressive hair loss condition on the lower legs that is not well understood and may resolve on its own.
research Neuroactive steroids induce changes in fetal sheep behavior during normoxic and asphyxic states
Neurosteroids help protect fetal brains from asphyxia damage.
research Pyroptosis in Alopecia Areata: Synthesizing Emerging Hypotheses and Charting a Path to New Therapies
Targeting pyroptosis may offer new treatments for alopecia areata, but more research is needed.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Ca 2+ -mediated protein citrullination regulates proliferation in the regenerating and malignant CNS
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
research Optic Nerve Atrophy and Hair Loss in a Young Man
A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.