Imaging findings in systemic childhood diseases presenting with dermatologic manifestations

Imaging More than Skin-Deep: Radiologic and Dermatologic Presentations of Systemic Disorders

“…Tuberous sclerosis complex (TSC) is a hamartomatous disease due to a mutation of TSC1/ TSC2 genes with a prevalence between 6.8 and 12.4/100,000. It commonly involves the CNS, heart (rhabdomyomas in 50–65% of patients), kidneys, and lungs [ 2 , 15 , 44 , 45 , 46 , 47 ]. A number of skin lesions are diagnostic for TS, including facial angiofibromas (malar hamartomatous red nodules) ( Figure 8 A), hypopigmented macules (“ash leaf spots” and “confetti” lesions), shagreen patches (grayish-green/ light brown lesions in the lumbosacral region), and periungual fibromas (“Koenen tumors”, soft periungual nodules) [ 2 , 15 , 45 , 46 ].…”

“…Calcified lesions are considered to have T2 hypointensity. On CT, tubers are hypodense [ 2 , 46 , 47 ]. RMLs, extending outward from the ventricular surface toward the cortex, appear as curvilinear or straight T2/FLAIR hyperintensities on MRI ( Figure 8 B).…”

“…SEGAs are low-grade vascular tumors that are frequently bilateral and located near the foramen of Monro, with the potential to cause severe hydrocephalus. SEGAs are iso- or hyperdense on CT with frequent calcifications and T1 hypo/isointensity and T2 hyperintensity on MR imaging with intense enhancement [ 2 , 46 , 47 ].…”

“…LAM almost exclusively occurs in women, and is characterized by diffuse, thin-walled, well-circumscribed lung cysts of varying sizes and uniform distribution in bilateral lungs ( Figure 8 D). They are associated with recurrent pneumothoraxes, chylothoraces, and enlarged lymph nodes [ 2 , 46 , 47 ]. Skeletal manifestations of TS include focal or diffuse, irregular cyst-like lesions, with peripheral sclerosis (found on conventional radiographs or HRCT) and periosteal new bone formation occurring in the short tubular bones, spine, pelvis, and calvaria (hyperostosis of the inner table) [ 15 , 47 ].…”

“…Familiarity with dermatologic signs of these disorders can help radiologists interpret imaging findings more precisely. This may result in early diagnosis of the disease entity and obviate further, often invasive, diagnostic testing, ultimately improving patient management [ 1 , 2 , 3 ].…”