research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
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990-1000 / 1000+ resultsresearch Atypical Pain Developing Subsequent to Cryolipolysis for Noninvasive Reduction of Submental Fat
Cryolipolysis can cause unexpected pain in some patients.
research Fulminant systemic vasculitis in systemic lupus erythematosus. Case report and review of the literature
Early diagnosis and quick treatment are crucial for severe lupus cases.
research Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research The Frontal Fibrosing Alopecia Syndrome: How a Single Word Name Change Might Change So Much
Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research 54767 Involvement of Calcinosis Cutis in Autoimmune Connective Tissue Diseases
Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
research Hyperandrogenism insulin resistance-acanthosis nigricans syndrome in a female adolescent with migraine: A case report
Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.