Clinical Characteristics

LSDMCA3 is characterized by extreme variable clinical expressivity. The main feature is represented by the presence of linear skin lesions which have been observed in 2 of the three cases described. These lesions are commonly seen at birth as linear erythematous patches which can be covered by hemorrhagic crusts. They are commonly seen on the face (cheeks and neck) with asymmetric distribution. Rarely the same lesions can be seen in other parts of the body. Central nervous system abnormalities can be observed as well as heart involvement including histiocytoid cardiomyopathy and dilated cardiomyopathy. Histiocytoid cardiomyopathy without features of LSDMCA can also be observed in patients with mutations in NDUFB11. Mitochondrial complex I deficiency, type 30 is characterized by severe mitochondrial deficiency intrauterine growth restriction, premature birth, heart failure, respiratory failure, metabolic acidosis, may be fatal. CSA presents with mild dysmorphic features, early onset sideroblastic anemia and dysfunction of complex I.