Dermatol Ther 2021 03 18;34(2):e14875. Epub 2021 Feb 18.
Department of Dermatology, Fattouma Bourguiba Hospital, University of Medicine, Monastir, Tunisia.
Bol Med Hosp Infant Mex 2021 ;78(5):474-478
Departamento de Genética, Facultad de Medicina, Benemérita Universidad Autónoma de Puebla. Puebla, Puebla, Mexico.
Background: Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare disorder (< 1/1,000,000 individuals worldwide) linked to chromosome 10p14 in the DHTKD1 gene. This phenotype is characterized by an adolescent or adulthood-onset, slowly progressive distal muscle weakness and symmetrical atrophy associated with reduced or absent deep tendon reflexes. Currently, only two familiar cases from China have been reported: one familiar case of eight individuals affected by isolated DHTKD1 gene mutation and one familiar case of two individuals affected by DHTKD1 gene mutation and GJB1 gene mutation. Read More
Bol Med Hosp Infant Mex 2021 ;78(5):467-473
Hospital Francisco Grande Covián, Parres. Asturias, Spain.
Background: Cat scratch disease (CSD) is an infectious disorder caused by Bartonella henselae. The infection usually presents as local lymphadenopathy, fever, and mild constitutional symptoms. Systemic or severe disease is reported in 5-20% of patients with CSD. Read More
Graefes Arch Clin Exp Ophthalmol 2021 Sep 27. Epub 2021 Sep 27.
Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
Purpose: Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene.Methods: Multinational, multicentre cross-sectional case series. Read More
Case Reports Hepatol 2021 17;2021:4455748. Epub 2021 Sep 17.
Illawarra Rheumatology, Wollongong, Australia.
Background: Severely deranged liver function tests (LFTs) are an atypical presentation of giant cell arteritis (GCA). Atypical presentations of GCA may result in missed or delayed diagnosis. This increases the risk of visual loss, the most feared outcome of GCA. Read More
Case Rep Gastrointest Med 2021 17;2021:9992111. Epub 2021 Sep 17.
Department of Internal Medicine, Medical College of Wisconsin, Wauwatosa, WI 53226, USA.
Blue Rubber Bleb Nevus Syndrome (BRBNS), also known as Bean Syndrome, is a rare condition characterized by vascular ectasias that typically present systemically. Most diagnoses are made in early childhood due to cutaneous lesions in Caucasians with familial inheritance. Treatment is usually patient centered due to the wide variance in clinical presentation of the disease. Read More