Clínica y arte de la lipomatosis simétrica benigna. Enfermedad de Madelung

Cammarata‐Scalisi, Francisco; Flores, Rosalba Sánchez; Ramírez, José Araujo

doi:10.1016/s0213-9251(09)72499-2

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…We described previously the case of a 37‐year‐old male suffering from MSL (Figure 1A,B). At the age of 9 years, he presented with erythematous‐scaly and pruritic plaques on the face, forearms and the palms of both hands. Lesions on the palms were repeated at 17 and 37 years.…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

et al. 2020

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The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNA Lys -coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs. K E Y W O R D S dermatologic manifestations, erythema, hyperkeratosis, mitochondrial DNA mutation, multiple symmetric lipomatosis

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Section: Resultsmentioning

confidence: 99%