A 6-year-old boy of Native American descent presents with intensely pruritic, crusted papulonodules on his face, lower lip, and distal extremities. The eruption occurs every spring after sun exposure and persists through the summer, becoming chronic. Associated findings include cheilitis and conjunctivitis. Which human leukocyte antigen allele is strongly associated with this condition?
A 10-year-old boy presents for a skin check. On his back, you notice a mole with a completely depigmented, symmetric white ring around it. The central mole appears benign. The child is otherwise healthy. What is the most likely diagnosis for this lesion?
A medical student is learning about the layers of the epidermis. They ask which layer consists of columnar cells that rest on the dermal-epidermal junction and serves as a continuous supply of keratinocytes for the normally differentiating epidermis. You correctly identify this as the?
A 12-year-old boy presents with multiple dark-brown macules on his lips and buccal mucosa. His father had similar spots and recently underwent surgery for recurrent bowel obstruction. The boy’s presentation is most concerning for an increased lifetime risk of which condition?
A 15-year-old girl presents with painful oral ulcers that have been present for weeks, followed by the emergence of large, flaccid bullae on her trunk and groin. The Nikolsky sign is positive. A biopsy of perilesional skin with direct immunofluorescence shows an intercellular “chicken wire” pattern of IgG deposition. The circulating autoantibodies in this condition target which specific protein?
A 16-year-old female presents with concern for white patches on her hands and around her mouth. The patches are stark white, symmetric, and have appeared and slowly enlarged over the past year. This presentation is most characteristic of which disorder?
A 6-year-old child presents for a well-child visit with an asymptomatic eruption of tiny, 1-2 mm, shiny, flat-topped, skin-colored papules clustered on her abdomen and inner thighs. The mother points out a linear arrangement of these papules in a scratch mark on the child’s forearm. Which of the following is the most likely diagnosis?
A 6-month-old male infant presents with hypothermia, poor feeding, and seizures. His hair, which was normal at birth, is now short, fine, brittle, and light-colored, with features of pili torti. His skin is hypopigmented. This condition is caused by a pathogenic variant in the ATP7A gene, affecting the transport of which element?
A 1-year-old child presents with generalized ichthyosis, progressive cognitive impairment, and spastic diplegia. A key finding on fundoscopic examination is the presence of glistening dots in the foveal area. This constellation of findings is most consistent with a deficiency of which enzyme?
A 7-year-old boy with fair skin is noted to have more than six light-brown, uniformly hyperpigmented macules, each greater than 5 mm in diameter, on his trunk. He also has freckling in both axillae. On slit-lamp examination, the ophthalmologist identifies bilateral Lisch nodules on the iris. These findings are sufficient to diagnose which condition?
