Symmetric, purpuric hand nodules and macroglossia prompted skin biopsy revealing immunoglobulin light chain amyloidosis, leading to the diagnosis of multiple myeloma. Early detection of typical and atypical cutaneous amyloidosis presentations, such as this patient, is imperative for clinicians to initiate timely hematologic workup and treatment to improve patient outcomes and survival.

Systemic amyloid light-chain (AL) amyloidosis is characterized by the extracellular deposition of misfolded immunoglobulin light chains in tissues and is often associated with plasma cell dyscrasias, including multiple myeloma. Macroglossia is an uncommon but characteristic manifestation and may rarely be the presenting feature. We report the case of a 68-year-old woman who presented with progressive tongue enlargement, dysphagia, and significant weight loss over six months. Laboratory evaluation revealed severe anemia, hypercalcemia, markedly elevated serum free kappa light chains with a profoundly abnormal kappa/lambda ratio, and an IgG kappa monoclonal protein. Because the degree of macroglossia raised concern for coexisting amyloidosis, an abdominal fat pad biopsy was performed, but it was negative. Targeted tongue biopsy subsequently demonstrated amyloid deposition, and bone marrow biopsy revealed extensive plasma cell infiltration consistent with multiple myeloma. The patient was treated with a bortezomib-based regimen (CyBorD), with daratumumab added subsequently, resulting in improvement in macroglossia, oral intake, weight, and hematologic parameters over six months. This case highlights progressive macroglossia as an important clinical clue to underlying systemic AL amyloidosis and plasma cell dyscrasia, and underscores the importance of early tissue diagnosis and prompt therapy.

Macroglossia is a clinically significant feature of Beckwith-Wiedemann syndrome (BWS), but the cellular basis of tongue overgrowth remains poorly defined. Here, using pediatric tongue specimens from molecularly defined BWS subtypes and age-matched nonBWS controls, we show that BWS macroglossia is characterized by skeletal muscle fiber hypertrophy rather than increased fiber number. This phenotype is not explained by expansion or increased proliferation of satellite cells in situ , and prospectively isolated tongue satellite cells do not exhibit enhanced proliferation under growth conditions in vitro . Instead, BWS progenitors adopt distinct differentiation-associated regulatory states. IC2 loss of methylation cells sustain proliferative activity during differentiation and form enlarged myotubes, consistent with a cell-autonomous hypertrophic program. In contrast, pUPD11 cells display activation of NOTCH signaling and progenitor-associated programs, together with attenuated progression toward terminal myogenic differentiation. These findings identify skeletal muscle hypertrophy as a core tissue-level feature of BWS macroglossia and reveal that epigenetically defined BWS subtypes engage divergent myogenic programs that converge on a shared hypertrophic tissue phenotype. Together, these data define subtype-specific myogenic states in a rare human disease tissue and provide a framework for understanding how distinct epigenetic changes can produce a common overgrowth phenotype.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare, X-linked overgrowth disorder caused by pathogenic variants in the GPC3 gene, which encodes glypican-3. It is characterized by prenatal and postnatal overgrowth, craniofacial dysmorphism, supernumerary nipples, skeletal anomalies, and variable neurodevelopmental delay. Because of overlapping features such as macroglossia and coarse facial appearance, SGBS may be mistaken for acromegaly. We report a 33-year-old man evaluated for apparent acromegaloid facies. He had tall stature (196.5 cm; >97th percentile), macroglossia, mandibular prognathism, hypertelorism, supernumerary nipples, delayed developmental milestones, and mild intellectual disability. His brother had similar but milder features. Serum insulin-like growth factor 1 concentration was 75.9 ng/mL (SI: 9.95 nmol/L) (reference range, 94-284 ng/mL [SI: 12.3-37.2 nmol/L]), and growth hormone suppressed to 0.49 ng/mL (SI: 0.49 µg/L) following an oral glucose tolerance test, excluding acromegaly. Magnetic resonance imaging showed a 2.2-mm pituitary microadenoma considered incidental. Exome sequencing identified a hemizygous nonsense pathogenic variant in GPC3 (c.1159C > T; p.Arg387Ter), confirming SGBS type 1; the mother was heterozygous. This case highlights that tall stature with dysmorphic features, and supernumerary nipples, should prompt consideration of SGBS, with endocrine testing used to exclude acromegaly.

ObjectiveTo synthesize published clinical evidence on post-intubation lingual edema, focusing on pathophysiology, clinical presentation, diagnosis, management, and prevention strategies.MethodsA narrative review was performed using PubMed, Scopus, and EMBASE from inception through April 2025. Search terms included "tongue edema," "macroglossia," "lingual edema," "endotracheal intubation," "airway management," and "critical care." Eligible English-language reports describing lingual edema in adults following endotracheal intubation were included and synthesized qualitatively.ResultsA total of 48 studies were included, consisting predominantly of case reports, case series, and observational studies.ConclusionsPost-intubation lingual edema is an uncommon but potentially life-threatening complication. Early recognition, mechanism-directed management, and preventive strategies, including atraumatic airway techniques, optimal positioning, frequent reassessment and device repositioning, and selective consideration of bradykinin-targeted therapy when angioedema is suspected, are critical to reducing morbidity.

Amyloidosis is characterized by extracellular deposition of amyloid material in various tissues and organs. Deposition of amyloid in the tongue is rare but often occurs in multiple myeloma. Here we present the case of a 44-year-old woman under treatment for multiple myeloma who complained of lateral tongue pain. Intraoral examination revealed an ill-defined, firm, whitish swelling with an ulcerated surface on the bilateral borders of the tongue. Histopathological analysis revealed a lympho-mononuclear infiltration in the lamina propria with the presence of acellular and amorphous material positive for Congo red staining. Further examination revealed amyloidosis in a cervical mass associated with neural compression. Thorough examination of the oral cavity in patients with multiple myeloma is critical for early detection of amyloidosis. A biopsy is mandatory to confirm the diagnosis, thereby facilitating intervention and management if necessary.

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder presenting unique anesthetic challenges due to extensive vascular malformations. Key considerations include difficult airway management due to extensive facial and oral angiomas, seizure control, and maintaining stable intracranial and intraocular pressures. This case report discusses the perioperative management of a 57-year-old female with SWS undergoing dental surgery under general anesthesia and synthesizes the current literature on anesthetic considerations and management. Preoperative examination revealed a facial port-wine stain covering more than 75% of the face, extensive oral angiomas, macroglossia, and severe lip hypertrophy, raising concerns for difficult airway management and risk of hemorrhage. A rapid sequence induction was performed following upright preoxygenation, and video laryngoscopy provided a grade I view of the glottis. Endotracheal intubation was accomplished atraumatically, and the case proceeded uneventfully. The patient was extubated but experienced mild desaturation in the post-anesthesia care unit, prompting overnight observation before discharge at baseline oxygenation. This case highlights the importance of anticipating and planning for difficult airway management, maintaining vigilance for perioperative seizure control, and implementing strategies to minimize elevations in intracranial and intraocular pressures.

Background: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder caused by genetic and epigenetic alterations on chromosome 11p15.5. While macroglossia, abdominal wall defects, and tumor predisposition are well recognized, hearing impairment has been sporadically reported. Objectives: The aim of this study is to review audiological features, surgical management, and rehabilitation in BWS, and we additionally present three cases with comprehensive longitudinal audiological follow-up. Methods: A systematic review of PubMed and Scopus was conducted according to PRISMA guidelines, including studies reporting audiological findings in patients with confirmed BWS. Studies without audiological data or reporting only normal-hearing patients were excluded. Data on hearing loss type, severity, genetics, clinical features, imaging, surgical interventions, and outcomes were extracted. A narrative synthesis was conducted; no meta-analysis was performed due to the heterogeneity and limited number of available studies. Data extraction was performed independently by two reviewers who independently screened titles, abstracts, and full texts, with disagreements resolved by discussion. In addition, three original case reports from our institution were included to further illustrate the clinical and rehabilitative variability of hearing impairment in BWS. Results: We identified 40 patients from the review, but only 12 of them reported audiological data (e.g., hearing thresholds, type of hearing loss, or diagnostic tests). Ossicular chain anomalies, particularly stapes fixation, were frequently observed. Surgical management improved hearing in selected cases, while bone conduction devices (BCD) or conventional amplification were effective alternatives when surgery was contraindicated. Genetic analyses revealed CDKN1C mutations or imprinting defects in nine patients. Conclusions: Hearing impairment in BWS is clinically relevant and often conductive, likely related to middle-ear anomalies. Early, multidisciplinary audiological evaluation-including imaging when indicated-and individualized rehabilitation can optimize auditory and communicative outcomes. The evidence is limited by the small number of studies and heterogeneous reporting of audiological outcomes.