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Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the entire coding region of ABCC6 in affected individuals, presumed carriers with a limited phenotype and unaffected family members. Two allelic mutations were identified in each individual with unambiguous diagnosis of PXE, as well as in those with only minimal clinical signs suggestive of PXE but with positive skin biopsy. Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance.

Tear trough deformity is a popular target for the treatment with filler injections. The side effects are generally mild and transient. However, delayed complications may occur. We aim to perform a thorough systematic review of the published literature related to delayed complications after tear trough filler injections. A search of published literature was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines in June 2021 and included PubMed, ScienceDirect, and Embase databases. The Medical Subject Headings (MeSH) terms used included the following terms: delayed complications, nodules, granulomas, swelling, discoloration, dermal filler, hyaluronic acid (HA), polyacrylamide, calcium hydroxyapatite (CaHA), poly-L-lactic acid (PLLA), eyelid, periorbital, periocular, and tear trough. Twenty-eight articles consisting of 52 individual cases were included in the final analysis. 98% (51/52) of patients were female and had an average age of 48.3 years. HA was the most reported product (71.2%, 37/52), followed by PLLA (4/52, 7.7%), and CaHA (4/52, 7.7%). The most common delayed complication with any dermal filler was swelling (42.3%, 22/52) followed by lumps or nodules (25.0%, 13/52). Xanthelasma-like reaction (17.3%, 9/52), migration (7.7%, 4/52), discoloration (3%, 3/52) also occurred. The average time of onset of any complication was 16.8 months with xanthelasma-like reaction appearing soonest (mean: 10 months) and discoloration appearing latest (mean: 52 months). Most swelling cases were caused by HA. Semi-permanent fillers such as PMMA and synthetic fillers such as PLLA were more likely to be associated with lumps and nodules than other complications. It is important that clinicians who perform tear trough augmentation with dermal fillers have a thorough understanding of the risks of the procedure to diagnose and manage them promptly as well as provide patients with accurate information regarding the potential adverse effects.

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Introduction Lip augmentation with dermal filler is rising in popularity. There are generally minimal side effects that are mild and transient. However, long-term complications may occur and include lumps, bumps, nodules, or granulomas. To better understand this uncommon but challenging outcome, we aim to perform a thorough systematic review of the published literature related to nodule or granuloma formation after cosmetic soft tissue augmentation of the lips. Methods A search of published literature was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines in April 2021 and included PubMed, ScienceDirect, Embase, Google Scholar, and Cochrane databases. The Medical Subject Headings (MeSH) terms used included the following terms: “lip filler,” “hyaluronic acid,” “lip injection,” “lip augmentation,” “silicone,” “poly-L-lactic acid,” “calcium hydroxyapatite,” “polymethylmethacrylate,” “complications,” “reaction,” “granuloma,” and “nodule.” All studies were reviewed by two independent reviewers. Any discrepancies were resolved by a third reviewer. Results The initial search for filler-related nodules or granulomas yielded 2,954 articles and 28 were included in the final analysis containing 66 individual cases of lip nodules. All but one patient was female. The mean age was 50 years. Nodules presented on average 35.2 months or 2.9 years after initial treatment. Thirty-seven nodules underwent histological analysis, the majority of which identified the presence of a foreign-body granuloma. Silicone was the most reported filler used followed by hyaluronic acid. Most cases resolved following multiple treatments including oral antibiotics or steroids followed by surgical excision. Conclusion Understanding the sequelae of lip augmentation with filler products allows clinicians to provide safe and effective treatment. Nodules that present months to years following dermal treatment may represent a foreign-body granuloma. A combination of oral antibiotics, intralesional or oral steroids, and surgical excision successfully treated the majority of cases in our study.