A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.

In patients with 18q deletion syndrome (18q-), immunodeficiency, autoimmunity, and allergies have been described in a subset. Pitt-Hopkins syndrome represents a specific subset of patients with 18q- who have a proximal deletion involving the TCF4 gene or a TCF4 variant. Immunodeficiency has been reported in the overall 18q- population; however, immunodeficiency with Pitt-Hopkins syndrome has not been highlighted. This case report details the immunologic evaluations and the associated infections seen in a young adult with Pitt-Hopkins syndrome to underscore the challenges of managing adults with a complex phenotype who develop frequent infections. This patient with Pitt-Hopkins syndrome ultimately fulfilled the diagnostic criteria for common variable immunodeficiency. Immunoglobulin replacement has led to a somewhat improved infection pattern, although she continues to have aspiration events leading to pneumonia. This case highlights the clinical evolution of Pitt-Hopkins syndrome and serves as a reminder that immunodeficiency can occur in this syndrome.

A Contemporary Review of the Role of Facial Prostheses in Complex Facial Reconstruction.

BACKGROUND: Maxillofacial prostheses provide effective rehabilitation of complex facial defects as alternatives to surgical reconstruction. Although facial prostheses provide aesthetically pleasing reconstructions, multiple barriers exist that prevent their routine clinical use. The accessibility of facial prostheses is limited by the scarce supply of maxillofacial prosthodontists, significant time commitment and number of clinic appointments required of patients during prosthesis fabrication, short lifespan of prostheses, and limited outcomes data. METHODS: A literature review was completed using PubMed and Embase databases, with search phrases including face and maxillofacial prostheses. Patient cases are included to illustrate the use of facial prostheses to reconstruct complex facial defects. RESULTS: The clinical use of facial prostheses requires a multidisciplinary team including a reconstructive surgeon, a maxillofacial prosthodontist, and an anaplastologist, if available, to provide patients with aesthetically appropriate facial prostheses. Developing technology including computer-aided design and three-dimensional printing may improve the availability of facial prostheses by eliminating multiple steps during prosthesis fabrication, ultimately decreasing the time required to fabricate a prosthesis. In addition, enhanced materials may improve prosthesis durability. Long-term outcomes data using validated measures is needed to support the continued use of facial prostheses. CONCLUSIONS: Facial prostheses can be used to reconstruct complex facial defects, and bone-anchored prostheses are associated with high patient satisfaction. Multiple barriers prevent prostheses from being used for facial reconstruction. New technologies to assist the design and fabrication of prostheses, and cost reduction measures, may allow their use in the appropriately selected patient.

Physical Therapy for Iatrogenic Facial Paralysis: A Systematic Review.

Importance: Facial paralysis (FP) after surgery has substantial functional, emotional, and financial consequences. Most iatrogenic FP is managed by watchful waiting, with the expectation of facial function recovery. A potential treatment is physical therapy (PT). Objective: To investigate whether noninvasive PT compared with no PT or other intervention improves facial nerve outcomes in adults with iatrogenic FP. Evidence Review: Patients with noniatrogenic FP, facial reanimation surgery, and invasive adjunctive treatments (acupuncture or botulinum toxin injection) were excluded. A systematic review was conducted for records discussing iatrogenic FP and PT; a search for these records was performed using Ovid MEDLINE (1946-2019), Embase (1947-2019), Scopus (1823-2019), Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, World Health Organization International Clinical Trials Registry Platform (2004-2019), and ClinicalTrials.gov (1997-2019). The references of all the included articles were also assessed for eligible studies. All human participant, English-language study designs with at least 2 cases were included. Quality assessment was performed using the Methodological Index for Non-randomized Studies (MINORS) and the revised Cochrane Risk of Bias 2 (RoB 2) tool for randomized controlled trials. All search strategies were completed on May 16, 2019, and again on October 1, 2019. Findings: Fifteen studies (7 of which were retrospective cohort studies) and 313 patients with iatrogenic FP were included in the systematic review. Most iatrogenic FP (166 patients [53%]) was associated with parotidectomy; traditional PT (ie, facial massage) was the most common intervention (196 patients [63%]). The use of various facial grading systems and inconsistent reporting of outcomes prevented direct comparison of PT types. Conclusions and Relevance: Because of heterogeneity in reported outcomes of facial nerve recovery, definitive conclusions were unable to be made regarding the association between PT and outcomes of iatrogenic FP. Physical therapy probably has benefit and is associated with no harm in patients with iatrogenic FP.

Comparison of Autologous vs Homologous Costal Cartilage Grafts in Dorsal Augmentation Rhinoplasty: A Systematic Review and Meta-analysis.

Importance: Augmentation rhinoplasty requires adding cartilage to provide enhanced support to the structure of the nose. Autologous costal cartilage and irradiated homologous costal cartilage (IHCC) are well-accepted rhinoplasty options. Tutoplast is another alternative cartilage source. No studies, to our knowledge, have definitively demonstrated a higher rate of complications with IHCC grafts compared with autologous costal cartilage grafts. Objective: To compare rates of outcomes in the published literature for patients undergoing septorhinoplasty with autologous costal cartilage vs IHCC grafts vs Tutoplast grafts. Data Sources: For this systematic review and meta-analysis, the MEDLINE, Embase, Scopus, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases were searched for articles published from database inception to February 2019 using the following keywords: septorhinoplasty, rhinoplasty, autologous costal cartilage graft, cadaveric cartilage graft, and rib graft. Study Selection: Abstracts and full texts were reviewed in duplicate, and disagreements were resolved by consensus. Only patients who underwent an en bloc dorsal onlay graft were included for comparison to ensure a homogenous study sample. A total of 1308 results were found. After duplicate records were removed, 576 unique citations remained. Studies were published worldwide between January 1, 1990, and December 31, 2017. Data Extraction and Synthesis: Independent extraction by 2 authors was performed. Data were pooled using a random-effects model. Main Outcomes and Measures: All reported outcomes after septorhinoplasty and rates of graft warping, resorption, infection, contour irregularity, and revision surgery among patients receiving autologous grafts vs IHCC vs Tutoplast cartilage grafts. Results: Of 576 unique citations, 54 studies were included in our systematic review; 28 studies were included after applying inclusion and exclusion criteria. Our search captured 1041 patients of whom 741 received autologous grafts and 293 received IHCC grafts (regardless of type). When autologous cartilage (n = 748) vs IHCC (n = 153) vs Tutoplast cartilage (n = 140) grafts were compared, no difference in warping (5%; 95% CI, 3%-9%), resorption (2%; 95% CI, 0%-2%), contour irregularity (1%; 95% CI, 0%-3%), infection (2%; 95% CI, 0%-4%), or revision surgery (5%; 95% CI, 2%-9%) was found. Conclusions and Relevance: No difference was found in outcomes between autologous and homologous costal cartilage grafts, including rates of warping, resorption, infection, contour irregularity, or revisions, in patients undergoing dorsal augmentation rhinoplasty. En bloc dorsal onlay grafts are commonly used in augmentation rhinoplasty to provide contour and structure to the nasal dorsum.