Thursday, June 9, 2016


"so went Satan forth from the presence of the Lord and smote Job with sore boils from the sole of his foot unto his crown"

Ever since this patient was a child, he's had skin problems. In his first few weeks of life, he had a papulopustular crusted rash on his face, scalp, upper trunk, and buttocks. He was diagnosed with atopic dermatitis. He didn't have any wheezing, food allergies, or hayfever, though, and there's no family history of atopic dermatitis. He's also had lots of skin infections, including abscesses, furuncles, cellulitis, and lymphadenitis. Oddly enough, sometimes he has infections that lack classic signs of inflammation; they don't always manifest with erythema, warmth, or tenderness.

His other medical problems include recurrent sinus and middle ear infections. He's had pneumonia once requiring hospitalization. He's had weird teeth; he kept his primary teeth leading to two rows of teeth. This was later corrected by a dentist. He has scoliosis. He's had a few orthopedic surgeries for fractures from minor trauma.

Challenge: What's your diagnosis?

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RaH said...

Gardner's syndrome? an untipicall FAP-Mutation....

Craig Chen said...

interesting guess, but I was going for hyper-IgE syndrome

Hyperimmunoglobulin E recurrent infection syndrome (HIES) is also called Job syndrome and presents with recurrent Staphylococcal abscesses, sinopulmonary infections, and severe eczema. The characteristic facial features include broad nose, prominent lower lip, and eczematoid skin with doughy consistency.

Source: UpToDate.