Syphilis-related hepatitis in a liver transplant patient.

We herein describe a case of secondary syphilis hepatitis in a liver transplant patient. This homosexual man presented 15 years after an orthotopic liver transplant with nonsquamous papillomacular rash, mild cytolysis, and anicteric cholestasis. Laboratory tests showed syphilis seroconversionwith a VDRL test titer of 1/256, a Treponema pallidum hemagglutination assay of 1/5120, and a positive immunoglobulin M fluorescent Treponemal antibody absorbance. A liver biopsy performed 13 months after the diagnosis showed low-grade hepatitis with a METAVIR score of A1F1; it also showed moderate, nonspecific portal inflammation consisting primarily of neutrophils, with no evidence of cholestasis. The patient was given benzathine-penicillin (2400000 IU) with a transient increase in prednisolone dosages. Cytolysis rapidly, and cholestasis progressively, disappeared. Results of an immunoglobulin M fluorescent Treponemal antibody absorbance test became negative, whereas the VDRL test and the Treponema pallidum hemagglutination assay titers decreased slightly over time.

Novel ABCC6 mutations in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We found that arginine codon 518 was, with the previously described R1141X and EX23_29del, a recurrently mutated amino acid (11.5% of the mutations detected for each variant R518Q and R518X). No clear delineation of genotype/phenotype correlation was identified, and marked intra-familial variability of the disease was seen in one family. One family with pseudodominant inheritance displayed three distinct ABCC6 mutations, providing further evidence for the probable exclusive recessive transmission of PXE. These data contribute to the expanding database of ABCC6 mutations, to the description of phenotypic variability, and inheritance in PXE, and should be helpful for genetic counselling.

Cutis marmorata telangiectatica congenita: report of two persistent cases.

Cutis marmorata telangiectatica congenita (CMTC) is defined as a localized or generalized reticulated, blue-violet vascular network in skin that is present at birth. The evolution is characterized by rapid improvement within 2 years. Rarely the lesions do not improve very much with age. Few reports include long-term follow-up of CMTC. We report two patients with persistent CMTC, including one with nervous breakdown and failure of laser treatment. The cause and incidence of persistent CMTC is unknown. Parents can be counseled that over time the lesions of CMTC may or not improve. There seems to be no predictive clinical sign. CMTC is usually a benign condition and therapy is rarely discussed. Treatment of persistent CMTC seems difficult and the effectiveness of laser therapy needs to be evaluated.