Diffuse Pulmonary Lymphangiomatosis Monica P. Revelo, MD, PhD Brandon T. Larsen, MD, PhD Key Facts Terminology Rare disease characterized by proliferation of lymphatic vessels and smooth muscle cells along lymphatic…
Congenital Surfactant Deficiency Billie Fyfe, MD Eileen McKay, MD Key Facts Terminology Variable patterns of acute and chronic diffuse lung disease in neonates, children, and rarely adults due to genetic…
Dyshormonogenetic Goiter Vania Nosé, MD, PhD Key Facts Terminology Familial goiter that develops from defect in the metabolism of thyroid hormone secondary to an inherited disorder Etiology/Pathogenesis Multiple inherited biochemical…
Cavernous Hemangioma Brock Kaya, MD Key Facts Terminology Angiographically occult vascular malformation composed of uniform blood vessels with fibrous walls Clinical Issues Account for 10-15% of all vascular malformations Majority…
Cat Scratch Disease Irina Margaritescu, MD, DipRCPath Bruce R. Smoller, MD Key Facts Etiology/Pathogenesis Domestic cats represent natural reservoir and vectors Cat scratch disease (CSD) is caused by Bartonella henselae…
Molluscum Contagiosum Talley Whang, MD Key Facts Etiology/Pathogenesis Caused by molluscum contagiosum viruses (poxvirus), transmitted by skin-to-skin contact Clinical Issues Primarily affects young children; also affects immunosuppressed individuals Dome-shaped papules…
Darier Disease Irina Margaritescu, MD, DipRCPath Key Facts Etiology/Pathogenesis Autosomal dominant genodermatosis Mutations in gene ATP2A2 New mutations in ˜ 25% of cases Clinical Issues Age Typical onset in late…
Epidermolysis Bullosa, Inherited Jessica M. Comstock, MD Key Facts Terminology Heterogeneous group of noninflammatory inherited disorders characterized by development of blisters or erosions after minor trauma Etiology/Pathogenesis Autosomal dominant or…
