3 documents found, page 1 of 1
Darier Disease: First Molecular Study of a Portuguese Family
Almeida, A; Lobo, ML; Moura, C; Rivera, IBackground: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca2+ from the cytosol to the lumen of the ER....
Allergic contact dermatitis caused by (meth)acrylates in nail cosmetic products...
Raposo, I; Lobo, I; Amaro, C; Lobo, ML; Melo, H; Parente, J; Pereira, T; Rocha, J; Cunha, AP; Baptista, A; Serrano, P; Correia, T; Travassos, ARBACKGROUND: The increasing use of long-lasting nail aesthetic products has led to a growing number of cases of allergic contact dermatitis (ACD) caused by (meth)acrylates in recent years. OBJECTIVES: To provide information on ACD caused by (meth)acrylates related to nail cosmetic products. METHODS: We retrospectively reviewed files of patients with ACD caused by (meth)acrylates related to nail cosmetic products...
Grisel syndrome, acute otitis media, and temporo-mandibular reactive arthritis:...
Martins, J; Almeida, S; Nunes, P; Prata, F; Lobo, ML; Marques, JWe present a case report of a four-year-old boy with torcicollis and trismus after acute otitis media. Grisel Syndrome diagnosis in association with temporo-mandibular reactive arthritis was admitted, leading to early conservative treatment. GS should be suspected in a child presenting with torticollis after an upper respiratory tract infection or an ENT surgical procedure. The association with temporo-mandibul...