6 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... no functional CFTR ... trafficking defect caused ... Pathophys #Pulm #Peds ... ModulatorTherapy #NEJM
Erythemas Summarized
Erythema ab igne
 • A dermatosis that results from repeated exposure to heat (fires, heating
fires, heating pads ... potential inciting causes ... Haverhill fever caused ... Rash is usually ... #differential #diagnosis
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... and gut, which causes ... #clincial #peds ... calcifications #infant #NEJM
Moccasin-variety Tinea Pedis 
70 M chronic scaly feet. Over the years: rash has itched only occasionally;
Moccasin-variety Tinea Pedis ... Over the years: rash ... Diagnosis? ... dermatophytes cause ... Moccasin tinea pedis
Monkeypox Skin Rash
30 yr F and her 6 yr daughter purchased 2 prairie dogs 10 days
Monkeypox Skin Rash ... dogs 10 days ago (pers ... Diagnosis? ... monkeypox.’ 1st human case ... vesicles→pustules→crusts
Lichen Planus- ...On examination, numerous purple papules were noted on the anterior surface of the forearms
sawtooth rete pegs ... confirming the diagnosis ... Although the cause ... more extensive cases ... #NEJM #clinical