This condition has been associated with mutations in the TYRO protein tyrosine kinase binding protein (TYROBP) gene and in the triggering receptor expressed on myeloid cells 2 (TREM2) gene. TYROBP is located on the long arm of chromosome 19 (19q13.12) and TREM2 is located on short arm of chromosome 6 (6p21.1).
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Chronic multifocal Langerhans cell histiocytosis
Terminal osseous dysplasia with pigmentary defects
Generalized arterial calcification of infancy
Diffuse idiopathic skeletal hyperostosis
Diffuse capillary malformation with overgrowth
Fibrous hamartoma of infancy
Melanotic neuroectodermal tumor of infancy