A 58-Year-Old Woman with Acute Torsion of the Small Bowel Due to Diffuse Intestinal Lipomatosis.

BACKGROUND Diffuse intestinal lipomatosis is a rare condition that infiltrates mature fatty tissue into the intestinal submucosa and subserosa of the small or large intestine and can present with intestinal obstruction or torsion. This report is of the case of a 58-year-old woman who had acute torsion of the small bowel due to diffuse small intestinal lipomatosis. CASE REPORT A 58-year-old woman, who was otherwise in good health, arrived at our Emergency Department experiencing sudden, intense pain in the lower abdomen. She also reported abdominal swelling, feelings of nausea, vomiting, and reduced ability to defecate for at least 2 days. The next morning, contrast-enhanced abdominal computed tomography (CT) scan was performed, showing diffuse thickening of the small intestinal wall with hypodensity, fatty density, lumen narrowing, and wall thinning. The small intestine demonstrated a whirlpool-like distribution in the lower right abdomen and localized thickening of the small intestinal wall, suggesting acute intestinal torsion. An hour later, an emergency operation was performed to remove part of the small intestine. Three days later, pathological results showed a thin intestinal wall, expansion of the mucosal layer and submucosa, and hyperplasia of adipose tissue. CONCLUSIONS This report presents a rare case of torsion and small bowel obstruction caused by diffuse intestinal lipomatosis and focuses on the abdominal enhanced CT scan, which showed diffuse thickening of the small intestine, with multiple areas of fat density and torsion of the small intestine in the right lower abdomen. Histopathology is also presented, with the result showing intestinal lipomatosis.

Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS-MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next-generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1-associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.

[Clinical research progress of spinal epidural lipomatosis].

Objective: To review the clinical research progress of spinal epidural lipomatosis (SEL). Methods: The clinical studies on SEL at home and abroad in recent years were extensively reviewed, and the pathogenesis, clinical and imaging manifestations, and treatment status of SEL were summarized and analyzed. Results: SEL is a disease characterized by compression of the spinal cord and nerve roots due to abnormal accumulation of epidural adipose tissue in the spinal canal. Its prevalence and diagnosis rate are low and the pathogenesis is not fully understood. MRI is the most sensitive and specific diagnostic test for SEL. Surgical decompression and removal of excess adipose tissue are the only options for patients with acute SEL or those who have failed conservative management, and conservative management should be considered for other patients. Conclusion: SEL is a rare disease and related research still needs to be improved. In the future, high-quality, multi-center and large-sample studies will be of great significance for evaluating the choice of treatment methods and effectiveness of SEL patients.

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.

BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. CASE PRESENTATION: Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. CONCLUSIONS: Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

A case of spinal epidural lipomatosis presenting as a stroke mimic.

Here we present the case of a patient with right upper extremity and right lower extremity weakness of a three-day duration, which triggered a stroke evaluation. Ultimately, the diagnosis of spinal epidural lipomatosis (SEL) was made. Non-stroke diagnoses that present with stroke-like symptoms are referred to in the medical literature as stroke mimics. Such cases present with neurological deficits that imitate acute ischemic stroke. The frequency of such presentations occurs in up to 30% of initially suspected stroke. This case illustrates that SEL can present as a stroke mimic. To our knowledge, this is the first description of a presentation in the medical literature of SEL as a stroke mimic.

Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation.

We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations.

PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases.

Lipomatosis of peripheral nerves (LPN, also known as fibrolipomatous or lipofibromatous hamartoma of peripheral nerves) is a very rare, benign, intraneural, tumorous lesion that predominantly involves the median nerve but may rarely affect any peripheral nerve. Recently, PIK3CA mutations have been reported in macrodactyly, a rare condition related to LPN, and in other localized lipomatous overgrowth syndromes. In this retrospective study, we report 6 cases of FPN involving the median nerve (4 of them identified among 570 patients with carpal tunnel syndrome who underwent surgical decompression at our center from 2012 to 2022 and two seen in consultation by one of the authors). All cases were diagnosed via biopsy or resection supplemented by MRI. Patients were 4 males and 2 females aged 23 to 60 years (mean 38 years). One patient with bilateral lesions had in addition extensive angiomatosis of the paravertebral region. Histological examination showed an abnormal amount of mature fatty tissue containing disordered fibrous bands, entrapping normal-looking nerve fibers with prominent perineurial and endoneurial fibrosis. Genetic analysis using snapshot assay constructed to detect hotspots mutations in PIK3CA revealed similar PIK3CA mutations (p.H1047R; c.3140A>G) in 5/6 cases (83.3%). Our study represents a further contribution to the literature on LPN and highlights the diagnostic value of PIK3CA mutation testing as surrogate tool in equivocal cases and in those lesions without associated macrodactyly, especially as the biopsy findings of this lesion are essentially nonspecific.

A 54-Year-Old Woman with Papillary Thyroid Carcinoma Associated with Secondary Amyloid Goiter and Thyroid Lipomatosis.

BACKGROUND Amyloid deposition in the thyroid gland can be primary or secondary and can result in goiter. There have been previous reports of amyloid goiter and thyroid lipomatosis or fatty infiltration. Papillary thyroid carcinoma is the most common thyroid malignancy. We report a rare case of a 54-year-old woman with papillary thyroid carcinoma associated with secondary amyloid goiter and thyroid lipomatosis. CASE REPORT A 54-year-old woman with chronic pyelonephritis and bronchiectasis presented with compressive symptoms due to an enlarged thyroid gland. Thyroid function test results were in the normal range and serum thyroid autoantibodies and serum calcitonin levels were undetectable. Cervical ultrasound showed a diffusely swollen thyroid and a well-defined nodule in the right lobe, of which fine-needle aspiration cytology was suspicious for follicular neoplasm. Computed tomography showed an enlarged thyroid with low attenuation, suggestive of diffuse lipomatosis of the gland. Total thyroidectomy was performed, and a histopathology study indicated the presence of papillary carcinoma and diffuse lipomatosis of the thyroid gland with amyloid deposition. The patient was later diagnosed with secondary amyloidosis. CONCLUSIONS The presentation of secondary amyloidosis as a diffuse goiter with extensive fatty infiltration must be considered in the differential diagnosis of thyroid enlargement, especially those with rapid onset, and particularly in patients with a history of chronic inflammatory disorders or chronic infections predisposing to amyloid deposition. Rarely, differentiated thyroid carcinoma is found within an amyloid goiter and it must be excluded in the differential diagnosis.

Nevus Lipomatosus Superficialis in a Serous Inflammatory Capsule: A Case Report.

BACKGROUND Nevus lipomatosus superficialis (NLS) is a rare benign hamartomatous lesion characterized by adipocyte infiltration into the dermal layer of the skin. Clinically, there are 2 types of NLS lesions: the classical type and the solitary type. The solitary type of NLS is significantly more common in women, typically presents after age 30 years, and occurs most often in the inner thighs. This lesion is often mistaken for similar cutaneous lesions, including but not limited to acrochordons, fibrolipoma, neurofibromatosis, and lymphangioma. There is limited information in the literature on unique presentations of this rare lesion. CASE REPORT We present a case of a 26-year-old woman worried about a pedunculated papule in a fluid-filled capsule on her right inner thigh. She reported that the lesion doubled in size within 48 h prior to presentation. The lesion was biopsied in the clinic and pathology showed lobules of adipose cells in the dermis surrounded by collagen fibers and vascularity consistent with a diagnosis of inflamed NLS. Upon follow-up 2 weeks later, there were no signs of recurrence. CONCLUSIONS It was hypothesized that the unique presentation of a fluid-filled capsule surrounding a nevus lipomatosus superficialis occurred acutely following torsion of the pedunculated lesion. In addition to the patient's history of frictional rub between the thighs, histologic signs of lymphocytic infiltration in the dermis and edematous stroma supported the claim of torsional origins. The unique presentation of NLS in a fluid-filled capsule is not often discussed in the literature, and we hope this report will aid providers in identifying such lesions in the clinic.

Upper Eyelid and Orbital Involvement in Congenital Infiltrating Lipomatosis.

Congenital infiltrating lipomatosis of the face is a rare entity that has not been reported in the ophthalmic literature. The authors describe two patients affected by this condition. Diagnosis and management of congenital infiltrating lipomatosis of the face involving the eye adnexa is challenging and the psychological impact on such patients must be considered. [J Pediatr Ophthalmol Strabismus. 2022;59(3):e46-e49.].

Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?

BACKGROUND: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with SDS and left-sided ptosis. OBSERVATION: We report a case of an infant who presented with 2 episodes of severe sepsis and cytopenia, without overt symptoms of exocrine pancreatic deficiency or skeletal abnormalities. Persistent left-sided ptosis was noted in both presentations. Genetic testing confirmed the diagnosis of SDS. The left-sided ptosis was diagnosed as congenital myogenic ptosis. CONCLUSION: The association of ptosis and other congenital bone marrow failure syndromes is well established, but this is the first description of SDS with ptosis. This association may expand our understanding of SDS phenotypes if similar cases are reported in the future.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account for >90% of SDS. We hypothesized that the SDS phenotype varies based on genotype and conducted a genotype-phenotype correlation study to better understand these complexities. METHODS: We reviewed records of all patients with SDS or SDS-like syndromes in the National Cancer Institute's (NCI) IBMFS study. Additional published SDS cohorts were reviewed and compared with the NCI cohort. RESULTS: PVs in SBDS were present in 32/47 (68.1%) participants. Biallelic inheritance of SBDS c.258 + 2T > C and c.183_184TA > CT was the most common genotype in our study (25/32, 78.1%) and published cohorts. Most patients had the SDS hallmark features of neutropenia (45/45, 100%), pancreatic insufficiency (41/43, 95.3%), and/or bony abnormalities (29/36, 80.6%). Developmental delay was common (20/34, 58.8%). Increased risk of hematologic malignancies at young ages and the rarity of solid malignancies was observed in both the NCI cohort and published studies. CONCLUSIONS: SDS is a complex childhood illness with a narrow genotypic spectrum. Patients may first present to primary care, gastroenterology, orthopedic, and/or hematology clinics. Coordinated multidisciplinary care is important for diagnosis and patient management. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT00027274. IMPACT: The clinical and genetic spectrum of Shwachman Diamond Syndrome was comprehensively evaluated, and the findings illustrate the importance of a multidisciplinary approach for these complex patients. Our work reveals: 1. a narrow genotypic spectrum in SDS; 2. a low risk of solid tumors in patients with SDS; 3. patients with SDS have clinical manifestations in multiple organ systems.

Nevus Lipomatosus Cutaneous Superficialis of Hoffmann and Zurhelle: a rare cutaneous hamartoma.

Nevus lipomatosus cutaneous superficialis (NLCS) is a rare idiopathic cutaneous hamartoma characterized by ectopic clusters of mature adipose tissues in dermis. It is classified into two types. Classical type presenting as multiple lesions with onset at birth or within third decade of life and solitary type with onset between third to sixth decade of life. Here we present a case of 45 years female with adult onset, asymptomatic, grouped, skin colored, soft sessile growth in zosteriform pattern on left buttock. We here intend to report rare case of classical Nevus Lipomatosus Cutaneous Superficialis.

Clustered yellow papules in the posterior axilla of a middle-aged woman.

Naevus lipomatosus cutaneous superficialis (NLCS) of Hoffman-Zurhelle is a rare hamartomatous benign condition first described in 1921. Two clinical variants have been described: a classical form of multiple yellow papules that coalesce to form larger plaques with segmental distribution, and a solitary form also known as pedunculated lipofibroma. We present a case of early-stage NLCS with characteristic histopathological and dermoscopic features.