Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: (MIM *609058), (MIM *607481, (MIM *607568), (MIM *611935), and (MIM *608419). Although iMMA is the most common form of organic acidemia reported in Mexico, its genotypic spectrum is still largely unknown.

Pachydermodactyly: Soft Tissue Enlargement of the Fingers in a Teenager.

Pachydermodactyly (PDD) is an uncommon and benign digital fibromatosis of unknown etiology. It is characterized by a fusiform swelling of the medial and lateral sides of the fingers, with unspecific histopathological features of an increased number of fibroblasts, collagen, and mucin deposit in the dermis. Due to its rarity, PDD could be misdiagnosed as rheumatic arthropathies, which could lead to unnecessary immunosuppressant treatments.