By rray, 30 January, 2015
(BMJ)—A 63-yo woman w/ hx of epilepsy presented w/ 2 smooth, firm, flesh-colored lumps protruding from the nail folds of her toes. She had never undergone neuroimaging despite hx of seizures. What is the unifying diagnosis for her skin lesions and seizures?
Glioblastoma multiforme
Neurofibromatosis
Tuberous sclerosis
Neurocutaneous melanosis
Sturge-Weber syndrome
You are correct. Periungual fibromas are an important sign of tuberous sclerosis complex, an autosomal dominant multisystem disorder characterized by hamartomas in multiple organs, including skin, brain, eyes, kidney, and heart. Skin lesions are found in approximately 2/3 of cases and also include facial angiofibromas (‘adenoma sebaceum’), the shagreen patch, & ash leaf-shaped macules. A CT brain confirmed the dx of tuberous sclerosis and demonstrated subependymal nodules. This case highlights the importance of performing a skin exam, particularly of the feet & hands, in any pt presenting w/ seizures.
By rray, 29 January, 2015
(BMJ)—A 20-yo, healthy goat herder presented w/ 5 days of hemorrhagic bullae on her face that started as a painless, itchy papule; she had no systemic complaints. Exam: 3 lesions of hemorrhagic eschar surrounded by vesicles and brawny non-pitting edema. What is the diagnosis?
Bubonic plague
Cutaneous leishmaniasis
Cutaneous anthrax
Lymphocutaneous tularemia
Ecthyma
You are correct. Cutaneous anthrax was diagnosed by gram stain of vesicle fluid smear (showing large, gram-positive rods) and confirmed by culture. The lesion completely resolved after 14 days of IV penicillin. The source of infection was traced and found to be infected goats; some of them were dying. Exposure to infected animals or animal products is the most common means of transmission. The classic lesion is a painless papule that enlarges and ulcerates and develops a black eschar.