Dynamic Gardner cross-over in a simple glass.

The criticality of the jamming transition responsible for amorphous solidification has been theoretically linked to the marginal stability of a thermodynamic Gardner phase. While the critical exponents of jamming appear independent of the preparation history, the pertinence of Gardner physics far from equilibrium is an open question. To fill this gap, we numerically study the nonequilibrium dynamics of hard disks compressed toward the jamming transition using a broad variety of protocols. We show that dynamic signatures of Gardner physics can be disentangled from the aging relaxation dynamics. We thus define a generic dynamic Gardner cross-over regardless of the history. Our results show that the jamming transition is always accessed by exploring increasingly complex landscape, resulting in anomalous microscopic relaxation dynamics that remains to be understood theoretically.

Superficial fibromas with CTNNB1 mutation.

Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome). Affected patients also have an increased risk to develop desmoid fibromatosis (DTF), a locally aggressive neoplasm of the deep soft tissue highly prone to local recurrences. Although a minority of DTFs occur in the syndromic context and harbor APC germline mutations, most frequently their underlying molecular aberration is a sporadic mutation in Exon 3 of the CTNNB1 gene. Up to date, a non-syndromic equivalent to Gardner fibroma carrying a CTNNB1 mutation has not been defined. Here, we present two cases of (sub-)cutaneous tumors with a hypocellular and collagen-rich Gardner fibroma-like appearance and pathogenic, somatic CTNNB1 mutations. We aim to differentiate these tumors from other fibromas according to their histological appearance, immunohistochemical staining profile and underlying somatic CTNNB1 mutations. Furthermore, we distinguish them from locally aggressive desmoid fibromatosis regarding their biological behavior, prognosis and indicated therapeutic strategies. Consequently, we call them CTNNB1-mutated superficial fibromas as a sporadic counterpart lesion to syndromic Gardner fibromas.

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

BACKGROUND: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition. CASE REPORTS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected. CONCLUSIONS: Our findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.

Determining the nonequilibrium criticality of a Gardner transition via a hybrid study of molecular simulations and machine learning.

Apparent critical phenomena, typically indicated by growing correlation lengths and dynamical slowing down, are ubiquitous in nonequilibrium systems such as supercooled liquids, amorphous solids, active matter, and spin glasses. It is often challenging to determine if such observations are related to a true second-order phase transition as in the equilibrium case or simply a crossover and even more so to measure the associated critical exponents. Here we show that the simulation results of a hard-sphere glass in three dimensions are consistent with the recent theoretical prediction of a Gardner transition, a continuous nonequilibrium phase transition. Using a hybrid molecular simulation-machine learning approach, we obtain scaling laws for both finite-size and aging effects and determine the critical exponents that traditional methods fail to estimate. Our study provides an approach that is useful to understand the nature of glass transitions and can be generalized to analyze other nonequilibrium phase transitions.

Does embryo categorization by existing artificial intelligence, morphokinetic or morphological embryo selection models correlate with blastocyst euploidy rates?

RESEARCH QUESTION: Does embryo categorization by existing artificial intelligence (AI), morphokinetic or morphological embryo selection models correlate with blastocyst euploidy? DESIGN: A total of 834 patients (mean maternal age 40.5 ± 3.4 years) who underwent preimplantation genetic testing for aneuploidies (PGT-A) on a total of 3573 tested blastocysts were included in this retrospective study. The cycles were stratified into five maternal age groups according to the Society for Assisted Reproductive Technology age groups (<35, 35-37, 38-40, 41-42 and >42 years). The main outcome of this study was the correlation of euploidy rates in stratified maternal age groups and an automated AI model (iDAScore® v1.0), a morphokinetic embryo selection model (KIDScore Day 5 ver 3, KS-D5) and a traditional morphological grading model (Gardner criteria), respectively. RESULTS: Euploidy rates were significantly correlated with iDAScore (P = 0.0035 to <0.001) in all age groups, and expect for the youngest age group, with KS-D5 and Gardner criteria (all P < 0.0001). Additionally, multivariate logistic regression analysis showed that for all models, higher scores were significantly correlated with euploidy (all P < 0.0001). CONCLUSION: These results show that existing blastocyst scoring models correlate with ploidy status. However, as these models were developed to indicate implantation potential, they cannot accurately diagnose if an embryo is euploid or aneuploid. Instead, they may be used to support the decision of how many and which blastocysts to biopsy, thus potentially reducing patient costs.

Experimental observation of the marginal glass phase in a colloidal glass.

The replica theory of glasses predicts that in the infinite dimensional mean field limit, there exist two distinct glassy phases of matter: stable glass and marginal glass. We have developed a technique to experimentally probe these phases of matter using a colloidal glass. We avoid the difficulties inherent in measuring the long time behavior of glasses by instead focusing on the very short time dynamics of the ballistic to caged transition. We track a single tracer particle within a slowly densifying glass and measure the resulting mean squared displacement (MSD). By analyzing the MSD, we find that upon densification, our colloidal system moves through several states of matter. At lowest densities, it is a subdiffusive liquid. Next, it behaves as a stable glass, marked by the appearance of a plateau in the MSD whose magnitude shrinks with increasing density. However, this shrinking plateau does not shrink to zero; instead, at higher densities, the system behaves as a marginal glass, marked by logarithmic growth in the MSD toward that previous plateau value. Finally, at the highest experimental densities, the system returns to the stable glass phase. This provides direct experimental evidence for the existence of a marginal glass in three dimensions.

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth.

The activation of Wnt/ß-catenin signalling is a prerequisite for odontogenesis. APC, a member of the AXIN-CK1-GSK3ß-APC ß-catenin destruction complex, functions to modulate Wnt/ß-catenin signalling to establish regular teeth number and positions. APC loss-of-function mutations are associated with the over-activation of WNT/ß-catenin signalling and subsequent familial adenomatous polyposis (FAP; MIM 175100) with or without multiple supernumerary teeth. The ablation of Apc function in mice also results in the constitutive activation of ß-catenin in embryonic mouse epithelium and causes supernumerary tooth formation. The objective of this study was to investigate if genetic variants in the APC gene were associated with supernumerary tooth phenotypes. We clinically, radiographically, and molecularly investigated 120 Thai patients with mesiodentes or isolated supernumerary teeth. Whole exome and Sanger sequencing identified three extremely rare heterozygous variants (c.3374T>C, p.Val1125Ala; c.6127A>G, p.Ile2043Val; and c.8383G>A, p.Ala2795Thr) in APC in four patients with mesiodentes or a supernumerary premolar. An additional patient with mesiodens was compound as heterozygous for two APC variants (c.2740T>G, p.Cys914Gly, and c.5722A>T, p.Asn1908Tyr). Rare variants in APC in our patients are likely to contribute to isolated supernumerary dental phenotypes including isolated mesiodens and an isolated supernumerary tooth.

David Forman: Dentist, Photographer, Composer and Gardener.

David Forman worked as a general dental practitioner for many years. However, he eventually gave it up as his early hobbies took over his life. They included photography, musical composition, and gardening. As a professional photographer he was commissioned to take pictures of many places and peoples. Latterly he was famed for his photos of jazz musicians.

An artificial intelligence model correlated with morphological and genetic features of blastocyst quality improves ranking of viable embryos.

RESEARCH QUESTION: Can better methods be developed to evaluate the performance and characteristics of an artificial intelligence model for evaluating the likelihood of clinical pregnancy based on analysis of day-5 blastocyst-stage embryos, such that performance evaluation more closely reflects clinical use in IVF procedures, and correlations with known features of embryo quality are identified? DESIGN: De-identified images were provided retrospectively or collected prospectively by IVF clinics using the artificial intelligence model in clinical practice. A total of 9359 images were provided by 18 IVF clinics across six countries, from 4709 women who underwent IVF between 2011 and 2021. Main outcome measures included clinical pregnancy outcome (fetal heartbeat at first ultrasound scan), embryo morphology score, and/or pre-implantation genetic testing for aneuploidy (PGT-A) results. RESULTS: A positive linear correlation of artificial intelligence scores with pregnancy outcomes was found, and up to a 12.2% reduction in time to pregnancy (TTP) was observed when comparing the artificial intelligence model with standard morphological grading methods using a novel simulated cohort ranking method. Artificial intelligence scores were significantly correlated with known morphological features of embryo quality based on the Gardner score, and with previously unknown morphological features associated with embryo ploidy status, including chromosomal abnormalities indicative of severity when considering embryos for transfer during IVF. CONCLUSION: Improved methods for evaluating artificial intelligence for embryo selection were developed, and advantages of the artificial intelligence model over current grading approaches were highlighted, strongly supporting the use of the artificial intelligence model in a clinical setting.

Time-lapse KIDScoreD5 for prediction of embryo pregnancy potential in fresh and vitrified-warmed single-embryo transfers.

RESEARCH QUESTION: Can KIDScoreD5 predict which blastocysts have the highest potential for achieving pregnancy? DESIGN: A retrospective cohort study of 670 single fresh or frozen (FET) embryo transfer cycles was conducted between May 2019 and June 2021 at the Ottawa Fertility Centre, Canada. Blastocysts obtained from stimulated eligible cycles and cultured in a time-lapse incubator were selected for transfer or cryopreservation based on Gardner morphological scoring. Implantation and viable pregnancy rates were analysed retrospectively using KIDScoreD5 and Gardner scores associated with the transferred embryos. The predictive power of the KIDScoreD5 and Gardner assessment was evaluated using the average area under the curve (AUC) of the receiver operating characteristic curve. RESULTS: KIDScoreD5 was positively correlated with implantation (r = 0.96, P = 0.002) and viable pregnancy (r = 0.96, P  = 0.0001) rates. In fresh embryo transfer cycles, the AUC for implantation rate was significantly higher for KIDScoreD5 compared with Gardner scoring (0.70 versus 0.63, P  = 0.03). For FET, significantly higher AUC were calculated for KIDScoreD5 than for Gardner scoring, for both implantation (0.64 versus 0.54, P  = 0.002) and viable pregnancy (0.63 versus 0.53, P  = 0.002) rates. When the ranking of cryopreserved embryos was based on KIDScoreD5, 46.2% of the FET cycles had at least one unused sibling embryo with a better KIDScoreD5 than the one selected for FET based on Gardner assessment. CONCLUSIONS: KIDScoreD5 predicts implantation and viable pregnancy rates of blastocysts better than Gardner morphological assessment in single fresh or cryopreserved embryo transfer cycles.

Repetitive trauma-induced extra-nuchal-type fibroma.

A nuchal-type fibroma is a rare, benign fibrous tumour that typically occurs in the posterior neck along the midline, but can occur in extra-nuchal locations, most commonly in the back, shoulder and face. We present a biopsy-proven case that arose as a result of heavy gym-related activities. In particular, a heavy barbell was rested on his vertebral prominence at the level of C7/T1 during leg squatting. Repetitive trauma as a cause for extra-nuchal-type fibromas has been sparsely reported, but we suggest that sustained high pressure is an additional required feature. Although this lesion was in the posterior neck, it was contained entirely within the subcutaneous tissues without involvement of the nuchal ligament. Hence, it was considered an extra-nuchal fibroma. A description of key ultrasound and MRI imaging characteristics are provided to assist in making the diagnosis, along with a review of the current literature and a discussion of differential diagnoses.

Orbital osteomas associated with Gardner's syndrome: a case presentation and review of literature.

Gardner syndrome (GS) is a rare genetic disorder characterized by numerous intestinal colon polyps with various extraintestinal manifestations. Osteomas are a known extracolonic manifestation of GS and can affect the orbit, as seen in our patient, as well as 13 other cases documented in literature. Excision of large orbital osteomas can be successful with a multi-disciplinary approach as presented in this article. Ophthalmologists can even be the first to diagnose GS, usually via the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) lesions. Untreated, 100% of colon polyps will transform into cancer, thus it is important to be aware of this rare syndrome with ophthalmic manifestations and screen patients with osteomas for GS.

Useful hearing preservation is improved in vestibular schwannoma patients who undergo stereotactic radiosurgery before further hearing deterioration ensues.

INTRODUCTION: The present study evaluates whether hearing deterioration during observation reduces serviceable hearing preservation rates after stereotactic radiosurgery (SRS) in vestibular schwannoma (VS) patients with useful hearing. METHODS: We retrospectively analyzed 1447 VS patients who underwent SRS between 1992 and 2017. We identified 100 VS patients who had Grade I Gardner- Robertson (GR) hearing at initial diagnosis but were observed without surgery or SRS. We compared hearing after SRS in 67 patients who retained GR Grade I hearing from initial diagnosis to SRS (the hearing maintenance or HM group) to 33 patients whose hearing worsened from GR grade I to grade II (the hearing deterioration or HD group). We also investigated whether a decline in pure tone average (PTA) or speech discrimination score (SDS) before SRS affected hearing preservation after SRS. RESULTS: The serviceable hearing (GR I and II) preservation in HM patients was 80%s, 63%, and 51% at 3, 5, and 10 years, respectively. The serviceable hearing preservation in HD patients was 40%, 33%, and 20% at 3, 5, and 10 years, respectively. In multivariate analysis, younger age (< 55 years, p = 0.045) and HM during observation (p = 0.001) improved serviceable hearing preservation rates. Patients whose PTA increased ≥ 15 dB (p = 0.024) or whose SDS declined ≥ 10% (p = 0.019) had reduced serviceable hearing preservation rates. CONCLUSIONS: Hearing deterioration during observation before SRS reduced long term hearing preservation rate in VS patients with GR grade I hearing at initial diagnosis. SRS before hearing deterioration was recommended for hearing preservation.

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis.

Gardner fibroma (GF) is a benign soft-tissue tumor that is associated with Gardner syndrome and can progress to, or co-occur with, desmoid fibromatosis (DF). Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed GF and DF. DF arising from a preexisting GF (the so-called "GF-DF sequence") is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear ß-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF-DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF-DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors. The histologic findings of an adipocyte-rich intramuscular GF also are unique, expanding the morphological spectrum of GF and adding GF to the differential diagnosis of intramuscular lesions with an adipocytic component.

On the Frequency Carrier Offset and Symbol Timing Estimation for CCSDS 131.2-B-1 High Data-Rate Telemetry Receivers.

In recent years there have been significant developments in satellite transmitter technology to follow the rapid innovation of sensors on-board new satellites. The CCSDS 131.2-B-1 standard for telemetry downlink, released in 2012, is part of the next generation of standards that aims to support the increased data-rate caused by these improvements in resolution. As a result of its relative novelty, this standard currently lacks in-depth analysis by researchers, but it is also strongly supported by the European Space Agency (ESA) for future missions. For these reasons, it seems important to evaluate how major receiver sub-components, such as timing recovery and carrier frequency correction, can be designed and implemented in new receivers that support this standard. The timing error detectors (TED) and frequency error detectors (FED) were therefore studied on the specific peculiarities of CCSDS 131.2-B-1 in its usual environment of Low Earth Orbit (LEO). Estimators have been evaluated highlighting performances, trade-offs and peculiarities of each one with respect to corresponding architectural choices. Finally, a receiver architecture derived from the paper considerations is proposed in the aim of supporting very different mission scenarios. Specifically, the realized architecture employs a parallel feedforward estimator for the timing recovery section and a novel multi-algorithm feedback frequency correction loop to efficiently cover both low symbol rates (5 Mbaud) and high data-rates (up to 500 Mbaud). This solution represents a good trade-off to support these scenarios in a very compact footprint by pushing the clock frequency to the FPGA limit. The FPGA resources occupation on a Zynq Ultrascale+ RFSoC XCZU28DR FPGA is 5202 LUT, 4851 FF, 5 BRAM, and 21 DSP for the timing recovery part, while the frequency recovery section occupies 1723 LUT, 1511 FF, 2.5 BRAM and 32 DSP.

A low-cost, wireless near-infrared spectroscopy device detects the presence of lower extremity atherosclerosis as measured by computed tomographic angiography and characterizes walking impairment in peripheral artery disease.

BACKGROUND: Patients with peripheral artery disease (PAD) who experience intermittent claudication report a range of symptoms. Patients with symptoms other than classically described intermittent claudication may be at the highest risk for functional decline and mobility loss. Therefore, technologies allowing for characterization of PAD severity are desirable. Near-infrared spectroscopy (NIRS) allows for measurements of muscle heme oxygen saturation (StO2) during exercise. We hypothesized lower extremities affected by PAD would exhibit distinct NIRS profiles as measured by a low-cost, wireless NIRS device and that NIRS during exercise predicts walking limitation. METHODS: We recruited 40 patients with PAD and 10 control participants. All patients with PAD completed a computed tomographic angiography, 6-minute walk test, and a standardized treadmill test. Controls completed a 540-second treadmill test for comparison. StO2 measurements were continuously taken from the gastrocnemius during exercise. Variables were analyzed by Fischer's exact, χ2, Wilcoxon rank-sum, and Kruskal-Wallis tests as appropriate. Correlations were assessed by partial Spearman correlation coefficients adjusted for occlusive disease pattern. RESULTS: Patients with PAD experienced claudication onset at a median of 108 seconds with a median peak walking time of 288 seconds. The baseline StO2 was similar between PAD and control. The StO2 of PAD and control participants dropped below baseline at a median of 1 and 104 seconds of exercise, respectively (P < .0001). Patients with PAD reached minimum StO2 earlier than control participants (119 seconds vs 522 seconds, respectively; P < .001) and experienced a greater change in StO2 at 1 minute of exercise (-73.2% vs 8.3%; P < .0001) and a greater decrease at minimum exercise StO2 (-83.4% vs -16.1%; P < .0001). For patients with PAD, peak walking time, and 6-minute walking distance correlated with percent change in StO2 at 1 minute of exercise (r = -0.76 and -0.67, respectively; P < .001) and time to minimum StO2 (r = 0.79 and 0.70, respectively; P < .0001). CONCLUSIONS: In this initial evaluation of a novel, low-cost NIRS device, lower extremities affected by PAD exhibited characteristic changes in calf muscle StO2, which differentiated them from healthy controls and were strongly correlated with walking impairment. These findings confirm and expand on previous work demonstrating the potential clinical value of NIRS devices and the need for further research investigating the ability of low-cost NIRS technology to evaluate, diagnose, and monitor treatment response in PAD.

Association between calf muscle oxygen saturation with ambulatory function and quality of life in symptomatic patients with peripheral artery disease.

OBJECTIVE: The objective of this study was to determine whether calf muscle hemoglobin oxygen saturation (Sto2) obtained during a standardized treadmill test is associated with ambulatory function and health-related quality of life (HRQoL) in patients with symptomatic peripheral artery disease (PAD). We hypothesized that a rapid decline in calf muscle Sto2 during walking is associated with impaired ambulatory function and HRQoL and that these associations are independent of ankle-brachial index (ABI). METHODS: Calf muscle Sto2, peak walking time, and claudication onset time were obtained during a treadmill test in 151 symptomatic men and women with PAD. Patients were further characterized by demographic variables, comorbid conditions, cardiovascular risk factors, ABI, 6-minute walk distance, daily ambulatory activity, Walking Impairment Questionnaire (WIQ) score, and Medical Outcomes Study 36-Item Short Form Health Survey physical function score to assess HRQoL. RESULTS: The median calf muscle Sto2 value at rest was 52%, which declined to 22% after only 1 minute of walking during the treadmill test and reached a minimum value of 9% after a median time of 87 seconds of walking. Of the various calf muscle Sto2 measurements obtained during the treadmill test, the exercise time to the minimum calf muscle Sto2 value (log transformed) had the strongest univariate associations with peak walking time (r = 0.56; P < .001), claudication onset time (r = 0.49; P < .001), 6-minute walk distance (r = 0.31; P < .001), WIQ distance score (r = 0.33; P < .001), WIQ speed score (r = 0.39; P < .001), WIQ stair-climbing score (r = 0.37; P < .001), and Medical Outcomes Study 36-Item Short Form Health Survey physical function score (r = 0.32; P < .001). In adjusted multiple regression models, these associations persisted (P < .001) after adjustment for demographic measures, cardiovascular risk factors, comorbid conditions, and ABI. CONCLUSIONS: More rapid decline in oxygen saturation of the calf musculature during walking, indicative of impaired microcirculation, is predictive of impaired ambulatory function and HRQoL in patients with symptomatic PAD. Of particular importance, these associations are independent of ABI and other common health burdens, highlighting the clinical relevance that the microcirculation has on ambulatory function and HRQoL in patients with symptomatic PAD.

An update on the CNS manifestations of neurofibromatosis type 2.

Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in the NF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Patients may also develop other characteristic manifestations such as ocular lesions, neuropathies, meningioangiomatosis, and glial hamartia. NF2 has a highly variable clinical course, with some patients exhibiting a severe phenotype and development of multiple tumors at an early age, while others may be nearly asymptomatic throughout their lifetime. Despite the high morbidity associated with NF2 in severe cases, management of NF2-associated lesions primarily consists of surgical resection and treatment of symptoms, and there are currently no FDA-approved systemic therapies that address the underlying biology of the syndrome. Refinements to the diagnostic criteria of NF2 have been proposed over time due to increasing understanding of clinical and molecular data. Large-population studies have demonstrated that some features such as the development of gliomas and neurofibromas, currently included as diagnostic criteria, may require further clarification and modification. Meanwhile, burgeoning insights into the molecular biology of NF2 have shed light on the etiology and highly variable severity of the disease and suggested numerous putative molecular targets for therapeutic intervention. Here, we review the clinicopathologic features of NF2, current understanding of the molecular biology of NF2, particularly with regard to central nervous system lesions, ongoing therapeutic studies, and avenues for further research.

Spontaneous Ecchymotic Lesions with Systemic Symptoms: A Quiz.

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Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

BACKGROUND: Multiple pilomatricomas have been linked to various syndromes. However, these associations are poorly defined, leaving practitioners conflicted on management of these patients. OBJECTIVE: To perform a comprehensive review to clarify the strength of these relationships and identify which patients may benefit from additional screening and/or genetic screening. METHODS: A literature search was performed using the PubMed, Ovid, and Cochrane databases. Syndromic, familial, and sporadic cases of multiple pilomatricomas were stratified based on number of pilomatricomas. This information was graphed for visual comparison. RESULTS: Sixty-six syndromic cases from 52 publications were identified, with the majority (54) of cases representing myotonic dystrophy, familial adenomatous polyposis-related syndromes (including Gardner syndrome), Turner syndrome, or Rubinstein-Taybi syndrome. Twenty-five of the 54 cases (46.3%) had six or more pilomatricomas. Of sporadic cases, 128 out of 134 (95.5%) had five or less pilomatricomas. LIMITATIONS: Most articles were case reports and series, which are vulnerable to publication bias. Specific details were not explicitly noted in some original articles, and incomplete data could not always be included in analysis. Syndromes may have been missed in sporadic cases. CONCLUSION: The presence of six or more pilomatricomas is highly suggestive of an underlying syndrome (>95% specificity). These patients should undergo additional screening. Patients with less than six pilomatricomas and family history of myotonic dystrophy, first-degree relative with colon cancer or FAP-related syndrome, or family history of pilomatricomas should also undergo further screening.