2022
Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
Craig M, Geng B, Wigby K, Phillips S, Bakhoum C, Naheedy J, Cernelc-Kohan M. Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report. Allergy, Asthma & Clinical Immunology 2022, 18: 15. PMID: 35189965, PMCID: PMC8862239, DOI: 10.1186/s13223-022-00655-5.Peer-Reviewed Original ResearchGrowth hormone deficiencyHormone deficiencyPI3K pathwayAnatomic abnormalitiesUnique presentationOligoarticular juvenile idiopathic arthritisCase presentationThe patientK pathwayPatient's unique presentationJuvenile idiopathic arthritisUnique clinical featuresNine-year-old boyYears of ageMild developmental delayWhole-exome sequencingMultidisciplinary collaborative approachImmune cytopeniasHip painMicroscopic hematuriaRecurrent sinusitisBilateral nephromegalyGH therapyIdiopathic arthritisClinical featuresUnclear etiology
2017
Topical drug-induced subacute cutaneous lupus erythematosus isolated to the hands
Ramachandran SM, Leventhal JS, Franco LG, Mir A, Walters RF, Franks AG. Topical drug-induced subacute cutaneous lupus erythematosus isolated to the hands. Lupus Science & Medicine 2017, 4: e000207. PMID: 28331627, PMCID: PMC5353283, DOI: 10.1136/lupus-2017-000207.Peer-Reviewed Original ResearchDrug-induced SCLECutaneous lupus erythematosusLupus erythematosusTopical terbinafineUnique presentationDrug-induced subacute cutaneous lupus erythematosusSSA/Ro antibodiesSubacute cutaneous lupus erythematosusDrug-induced formsPatient's unique presentationTopical antifungal creamAnti-Ro antibodiesVariable systemic involvementRo antibodiesOral agentsOral terbinafineSystemic involvementTopical medicationsErythematous lesionsPsoriasiform lesionsPhysical examinationHistological featuresAntifungal creamOccupational exposureDorsal hand
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