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Fibroelastolytic papulosis (FEP) is an acquired cutaneous disorder of elastin that encompasses both white fibrous papulosis of the neck (WFPN) and pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis (PDE). Although FEP is a benign acquired disorder, it shares overlapping clinical features with pseudoxanthoma elasticum (PXE), a genetic disorder with systemic manifestations. We report two cases of FEP, including the WFPN and PXE-like PDE variants, in elderly women. In one case, a woman in her 70s with hyperlipidemia and chronic kidney disease presented with white-to-yellow, smooth, monomorphic papules coalescing into plaques on the posterior neck and bilateral antecubital fossa. A punch biopsy and elastic stain revealed a loss of elastic fibers in the papillary dermis. Based on these findings, we diagnosed our patient with PXE-like PDE. In another case, a woman in her 60s with no significant medical history similarly presented with skin-colored, smooth monomorphic papules on the posterior and anterior neck. A punch biopsy was also performed and an elastic stain showed a loss of elastic fibers in the papillary dermis, confirming the diagnosis of WFPN. Although rare, FEP is an important entity for dermatologists to recognize and differentiate from PXE given the potential for systemic complications in PXE.

Atypical fibroxanthoma and pleomorphic dermal sarcoma are on a spectrum of cutaneous tumors that present as ulcerated lesions in older adults. We present an 84-year-old man with pleomorphic dermal sarcoma, initially presenting as a bleeding lesion of the cheek that progressed to an eroded nodule.

Undifferentiated pleomorphic sarcoma (UPS) and related tumors are the most common type of soft tissue sarcoma. However, this spectrum of tumors has different etiologies with varying rates of metastasis and survival. Two dermal-based neoplasms in this class of pleomorphic sarcomas, atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS), are challenging to differentiate at initial biopsy but vary significantly in prognosis. We performed single-cell transcriptomics on five AFX and PDS biopsy specimens as well as both single-cell and spatial transcriptomics on one PDS excision specimen to better characterize these tumors. The top differential genes between AFX and PDS were predictive of overall survival in 17 other cancers included in the Human Protein Atlas. Of these genes, COL6A3 and BGN predicted overall survival and metastasis-free survival in independent cohorts of 46 and 38 UPS tumors, respectively. COL6A3 was most predictive of overall survival in UPS patients and outperformed an established sarcoma prognostic gene panel at predicting metastasis in UPS. [ABSTRACT FROM AUTHOR]

Atypical fibroxanthoma (AFX) is a rare neoplasm, with a limited number of cases reported in the periocular region. In this case report, we detail a 63-year-old woman who presented with a polypoid, exophytic lesion on her right upper eyelid that had been progressing for a year. The lesion was meticulously excised with security margins and reconstructed using a glabellar flap. Following a thorough microscopic and immunohistochemical analysis, AFX was diagnosed. Despite its sometimes clinical and histological benign appearance, AFX is classified as a malignant neoplasm; however, it carries an excellent prognosis with low metastasis and recurrence rates. Complete excision with safety margins is essential and an adequate post-operative surveillance is recommended. Owing to its rarity, ophthalmologists should remain vigilant and include AFX in their differential diagnosis, as the tumor's benign appearance may lead to misdiagnosis of this malignant entity. [ABSTRACT FROM AUTHOR]

Verruciform xanthomas are rare lesions affecting 0.025-0.5% of the population. They present as an asymptomatic, slow growing solitary lesion on the oral mucosa. Commonly misdiagnose as squamous cell carcinoma, verruca vulgaris, leukoplakia, and lichen planus. Presented is a 22 year old male with a painful verruciform xanthoma on the posterior ear lobe in a prior ear piercing.

Introduction Xanthogranulomatous prostatitis is a very rare benign inflammatory lesion of the prostate that may be similar to prostatic carcinoma in clinical presentation and radiological characteristics. Case presentation A 77‐year‐old man was admitted to our hospital because of high prostate‐specific antigen level. Magnetic resonance imaging showed a 6.5 cm in diameter multifocal mass with hemorrhage at the base of the left lobe of the prostate. Biopsy was performed. Histopathological examination revealed no evidence of malignancy. After biopsy, he developed recurring fever, so the patient was treated with open suprapubic tumor resection to control infection. Pathological examination revealed xanthogranulomatous prostatitis. Conclusion It is necessary to diagnose xanthogranulomatous prostatitis by cooperation between urologists and pathologists, and consider xanthogranulomatous prostatitis as a differential diagnosis. Treatment should be conservative in principle; however, surgical intervention may be necessary.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme. Deficiency of this enzyme leads to the accumulation of cholestanol and cholesterol in various systems (brain, lens, tendons), resulting in chronic diarrhea, juvenile cataracts, tendon xanthoma, and progressive neurodegeneration. Neurological manifestations include ataxia, dystonia, parkinsonism, seizures, dementia, and peripheral neuropathy. We report a 55-year-old woman who presented with chronic and progressive difficulty walking with a history of juvenile cataracts and a family history of parkinsonism. She was found to have cognitive decline, pyramidal-cerebellar signs, and xanthomas at her distal extremities. The diagnosis of CTX was confirmed by a homozygous pathological variant of the CYP27A1 gene, and treatment with chenodeoxycholic acid was initiated. Because CTX is treatable and preventable, accurate diagnosis and initiation of treatment at the earliest stages are crucial.

Abstract Xanthoma typically occurs in the subcutaneous tissues, with rare cases of xanthoma in the joints. However, the case of knee joint osteonecrosis combined with xanthoma is even more uncommon. In this article, we described a 50-year-old female patient who suffered xanthoma in the knee joint on the basis of osteonecrosis of the knee joint. The primary clinical symptoms were knee joint pain and limited mobility. The patient initially received conventional treatment for osteonecrosis. However, there was no significant improvement. Later, we found a synovial xanthoma in the patient’s knee. Finally, she underwent arthroscopic excision of the knee joint synovial xanthoma. Following the procedure, her VAS score decreased from 7 to 2, and knee joint mobility increased from 10–103° to 10–140°. Through our follow-up, the patient did not exhibit symptom recurrence. This case is valuable as it provides a feasible therapeutic approach for future clinical applications.

Pleomorphic dermal sarcomas can be clinically aggressive, with a higher tendency to cause local recurrence, metastasis, and death. Atypical fibroxanthoma and pleomorphic dermal sarcoma are histopathologically similar, and their distinction requires a systematic examination of the entire excised tumor. Since Mohs micrographic surgery is commonly utilized to treat atypical fibroxanthoma, a histopathologic evaluation of debulk specimens by permanent pathology is prudent to avoid underdiagnosing pleomorphic dermal sarcoma. This approach can improve risk assessment and treatment decisions, ultimately enhancing patient outcomes. Also, the proper distinction will facilitate the future development of accurate staging criteria and additional treatment modalities.

Although extensively studied in cutaneous epithelial neoplasms, the TRPS1 immunoreactivity in cutaneous mesenchymal neoplasms and tumors of uncertain differentiation (CMNTUDs), such as atypical fibroxanthoma (AFX), remains largely unexplored. We assessed TRPS1 immunoreactivity in 135 CMNTUDs, comprising 46 fibrohistiocytic/fibroblastic tumors, 28 vascular tumors, 24 peripheral nerve sheath tumors (PNSTs), 21 tumors of uncertain differentiation, and 16 smooth muscle tumors. Additionally, we included selected cases of melanoma with spindled cell morphology or desmoplastic features (n = 9) and sarcomatoid squamous cell carcinoma (SSCC) (n = 5) to compare TRPS1 expression patterns with those of AFX. TRPS1 expression was prevalent in dermatofibromas (24/24), leiomyomas (8/8), AFXs/pleomorphic dermal sarcoma (PDS) (20/21), dermatofibrosarcomas protuberans (14/22), and leiomyosarcomas (6/8). It was uncommon in angiosarcomas (3/20), Kaposi sarcomas (2/8), and neurofibromas (5/17) and absent in perineuriomas (0/2). AFXs/PDS exhibited the highest median H-score of 240, contrasting with minimal TRPS1 immunoreactivity in vascular neoplasms and PNSTs, with median H-scores consistently below 10. Significant differences in H-score were observed between AFXs/PDS and angiosarcomas (p < 0.001), melanomas (p < 0.001), and leiomyosarcomas (p = 0.029). However, no significant difference was found compared to SSCCs, suggesting limited discriminatory power of TRPS1 in this context. This study sheds light on TRPS1 expression patterns in a subset of CMNTUDs, extending beyond prior studies primarily focused on epithelial tumors, while underscoring potential pitfalls associated with TRPS1 immunohistochemistry.

Abstract Background Sitosterolemia, an autosomal recessive condition, is characterized by impaired metabolism of plant sterols. Clinical symptoms include skin xanthoma, premature atherosclerotic disease, arthritis, and unexplained hematological abnormalities. However, there is a dearth of studies on sitosterolemia-related brain damage. Methods This study focused on the family of two sitosterolemia patients who presented with severe hypercholesterolemia and xanthoma. Radiological examinations, biopsies, whole-exome sequencing (WES), and plant sterol tests were conducted. Results The index patient, a 66-year-old female, initially exhibited weakness in both lower limbs and later developed urinary and fecal incontinence. Neuroimaging showed that the falx of the brain had irregular fusiform thickening. Significant tissue edema was observed around the lesions in the bilateral frontal-parietal lobes. Pathological analysis of the biopsied brain lesion revealed extensive cholesterol crystal deposition and lymphocyte infiltration in the matrix. The index patient who experienced cerebral impairment and her sister both carried two compound heterozygous variants in ATP binding cassette transporter G5 (ABCG5). These included the nonsense variants NM_022436: c.751 C > T (p.Q251X) in exon 6 and NM_022436: c.1336 C > T (p.R446X) in exon 10. A notable increase in plant sterol levels was observed in the younger sister of the index patient. Conclusion This study highlights a previously unreported neurological aspect of sitosterolemia. Imaging and pathology findings suggest that cholesterol crystals may be deposited in connective tissues such as the cerebral falx and pia mater through blood circulation.

Although extensively studied in cutaneous epithelial neoplasms, the TRPS1 immunoreactivity in cutaneous mesenchymal neoplasms and tumors of uncertain differentiation (CMNTUDs), such as atypical fibroxanthoma (AFX), remains largely unexplored. We assessed TRPS1 immunoreactivity in 135 CMNTUDs, comprising 46 fibrohistiocytic/fibroblastic tumors, 28 vascular tumors, 24 peripheral nerve sheath tumors (PNSTs), 21 tumors of uncertain differentiation, and 16 smooth muscle tumors. Additionally, we included selected cases of melanoma with spindled cell morphology or desmoplastic features (n = 9) and sarcomatoid squamous cell carcinoma (SSCC) (n = 5) to compare TRPS1 expression patterns with those of AFX. TRPS1 expression was prevalent in dermatofibromas (24/24), leiomyomas (8/8), AFXs/pleomorphic dermal sarcoma (PDS) (20/21), dermatofibrosarcomas protuberans (14/22), and leiomyosarcomas (6/8). It was uncommon in angiosarcomas (3/20), Kaposi sarcomas (2/8), and neurofibromas (5/17) and absent in perineuriomas (0/2). AFXs/PDS exhibited the highest median H-score of 240, contrasting with minimal TRPS1 immunoreactivity in vascular neoplasms and PNSTs, with median H-scores consistently below 10. Significant differences in H-score were observed between AFXs/PDS and angiosarcomas (p < 0.001), melanomas (p < 0.001), and leiomyosarcomas (p = 0.029). However, no significant difference was found compared to SSCCs, suggesting limited discriminatory power of TRPS1 in this context. This study sheds light on TRPS1 expression patterns in a subset of CMNTUDs, extending beyond prior studies primarily focused on epithelial tumors, while underscoring potential pitfalls associated with TRPS1 immunohistochemistry. [ABSTRACT FROM AUTHOR]

Pleomorphic dermal sarcomas can be clinically aggressive, with a higher tendency to cause local recurrence, metastasis, and death. Atypical fibroxanthoma and pleomorphic dermal sarcoma are histopathologically similar, and their distinction requires a systematic examination of the entire excised tumor. Since Mohs micrographic surgery is commonly utilized to treat atypical fibroxanthoma, a histopathologic evaluation of debulk specimens by permanent pathology is prudent to avoid underdiagnosing pleomorphic dermal sarcoma. This approach can improve risk assessment and treatment decisions, ultimately enhancing patient outcomes. Also, the proper distinction will facilitate the future development of accurate staging criteria and additional treatment modalities. [ABSTRACT FROM AUTHOR]

Background: Xanthomas are papulo-nodular, yellow, soft, painless, dermal-based non-neoplastic cutaneous lesions that comprise of localized aggregates of lipid-laden histiocytes. Case report: A thirteen-year-old adolescent girl presented with multiple, large, bilateral, nodules present over elbows, posterior aspect of heel, and knees for five years. Fine needle aspiration cytology was performed, and the smears showed numerous foamy histiocytes, a few benign spindle cells, and foreign-body giant cells against a lipidaceous background. Her maternal aunt and grandmother also had xanthelasma palpebrarum. Serum lipid levels were advised and were markedly deranged in all three of them. Based on the corroborative clinical, biochemical, and cytopathological findings, a final diagnosis of familial hypercholesterolemia (FH) was rendered. Conclusion: The present case sheds light on the importance of prompt cytopathological diagnosis of xanthomatous lesions, especially in children and adolescents, as it can help prevent morbidity and mortality due to associated premature adverse cardiovascular and cerebrovascular events if left undiagnosed. [ABSTRACT FROM AUTHOR]

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme. Deficiency of this enzyme leads to the accumulation of cholestanol and cholesterol in various systems (brain, lens, tendons), resulting in chronic diarrhea, juvenile cataracts, tendon xanthoma, and progressive neurodegeneration. Neurological manifestations include ataxia, dystonia, parkinsonism, seizures, dementia, and peripheral neuropathy. We report a 55-year-old woman who presented with chronic and progressive difficulty walking with a history of juvenile cataracts and a family history of parkinsonism. She was found to have cognitive decline, pyramidal-cerebellar signs, and xanthomas at her distal extremities. The diagnosis of CTX was confirmed by a homozygous pathological variant of the CYP27A1 gene, and treatment with chenodeoxycholic acid was initiated. Because CTX is treatable and preventable, accurate diagnosis and initiation of treatment at the earliest stages are crucial. [ABSTRACT FROM AUTHOR]

Xanthoma typically occurs in the subcutaneous tissues, with rare cases of xanthoma in the joints. However, the case of knee joint osteonecrosis combined with xanthoma is even more uncommon. In this article, we described a 50-year-old female patient who suffered xanthoma in the knee joint on the basis of osteonecrosis of the knee joint. The primary clinical symptoms were knee joint pain and limited mobility. The patient initially received conventional treatment for osteonecrosis. However, there was no significant improvement. Later, we found a synovial xanthoma in the patient's knee. Finally, she underwent arthroscopic excision of the knee joint synovial xanthoma. Following the procedure, her VAS score decreased from 7 to 2, and knee joint mobility increased from 10–103° to 10–140°. Through our follow-up, the patient did not exhibit symptom recurrence. This case is valuable as it provides a feasible therapeutic approach for future clinical applications. [ABSTRACT FROM AUTHOR]

This article discusses a case of normolipemic xanthoma associated with folliculotropic mycosis fungoides (fMF), a variant of mycosis fungoides. The patient, a 60-year-old Japanese man, presented with yellowish masses and patchy alopecia on the scalp, as well as follicular papules on the trunk and extremities. Trichoscopy and histological analysis revealed mucin deposition, lymphocyte and eosinophil infiltrations, and dense infiltration of histiocytes mixed with eosinophils and lymphocytes. The article suggests that the tumour microenvironment triggers histiocyte infiltration, which may lead to xanthoma formation. The case highlights the challenges in diagnosing fMF due to excessive granulomatous/xanthomatous components and emphasizes the importance of a comprehensive assessment for a definitive diagnosis. [Extracted from the article]

Key Clinical Message: An 83‐year‐old man presented an elevated skin lesion in the left temporal area. The resected specimen was identified between a basal cell carcinoma and an atypical fibroxanthoma. A final diagnosis of basal cell carcinoma and atypical fibroxanthoma was made. This study reports a rare case of a cutaneous collision. [ABSTRACT FROM AUTHOR]

Simple Summary: While sun exposure and associated tissue changes stemming from ultraviolet radiation are closely associated with the most common forms of skin cancer, far less is known regarding rare types of skin cancer. In this study, for the first time, we used a light microscopy technique to evaluate connective tissue changes in samples from patients with six different types of rare skin cancers, assessing the relationship between these changes, patient age, and whether tumors arose on sun-exposed parts of the body. We found that these tissue changes were most pronounced for patients with specific cancers known to be linked to chronic sun damage and tumors arising on sun-exposed parts of the body. We also noted tumor type-specific trends in terms of sex ratios, sites of tumor presentation, and the relationship between the development of particular tumors and patient immunosuppression. Our results are important and novel as they expand the available data associated with these rare skin cancers while also offering insight into the value of differentiating among these tumor types based on their relationship with sun exposure, potentially informing preventative, diagnostic, and/or therapeutic approaches. (1) Background: Rare skin cancers include epithelial, neuroendocrine, and hematopoietic neoplasias as well as cutaneous sarcomas. Ultraviolet (UV) radiation and sunburns are important drivers for the incidence of certain cutaneous sarcomas; however, the pathogenetic role of UV light is less clear in rare skin cancers compared to keratinocyte cancer and melanoma. In this study, we compared the degree of actinic elastosis (AE) as a surrogate for lifetime UV exposure among selected rare skin cancers (atypical fibroxanthoma [AFX], pleomorphic dermal sarcoma [PDS], dermatofibrosarcoma protuberans [DFSP], Kaposi sarcoma [KS], Merkel cell carcinoma [MCC], and leiomyosarcoma [LMS]) while taking into account relevant clinical variables (age, sex, and body site). (2) Methods: We newly established a semi-quantitative score for the degree of AE ranging from 0 = none to 3 = total loss of elastic fibers (basophilic degeneration) and multiplied it by the perilesional vertical extent (depth), measured histometrically (tumor-associated elastosis grade (TEG)). We matched the TEG of n = 210 rare skin cancers from 210 patients with their clinical variables. (3) Results: TEG values were correlated with age and whether tumors arose on UV-exposed body sites. TEG values were significantly higher in AFX and PDS cases compared to all other analyzed rare skin cancer types. As expected, TEG values were low in DFSP and KS, while MCC cases exhibited intermediate TEG values. (4) Conclusions: High cumulative UV exposure is more strongly associated with AFX/PDS and MCC than with other rare skin cancers. These important results expand the available data associated with rare skin cancers while also offering insight into the value of differentiating among these tumor types based on their relationship with sun exposure, potentially informing preventative, diagnostic and/or therapeutic approaches. [ABSTRACT FROM AUTHOR]

Xanthelasma palpebrarum (XP) is the predominant form of cutaneous xanthoma, as it accounts for greater than 95% of cases. It is characterized by the presence of foam cell clusters containing a large amount of low-density lipoprotein (LDL), which are located in the connective tissue of skin, tendons, and fascia. XP lesions commonly present as distinctive yellow-orange macules, papules, or nodules, and are primarily on the upper eyelids as well as the inner canthus. Women are affected twice as often as men, with lesions typically emerging between the ages of 35 and 55. The pathophysiology of XP involves abnormal lipid metabolism and is often associated with hyperlipidemic states like Type II and IV hyperlipidemia, hypothyroidism, weight gain, and fatty diet. Despite the availability of various treatment methods, current XP management lacks standardization, particularly due to limited comparative research. To address this gap, we conducted an extensive literature review of 45 studies published between 2012 to 2023, which provides an updated overview of current XP treatment modalities. This comprehensive analysis will inform researchers and clinicians on the evolving landscape of XP management. [ABSTRACT FROM AUTHOR]

Pleomorphic dermal sarcoma (PDS) is a fast-growing mesenchymal tissue tumor with similar characteristics to an atypical fibroxanthoma (AFX) presenting a significant clinical challenge to diagnose for physicians. We report a 79-year-old male presenting with a 3-month history of a lesion on his scalp that had been previously superficially biopsied yielding a diagnosis of PDS or AFX. Following a second biopsy, new findings led to the diagnosis of PDS. A wide local excision with 2 cm margin with delayed split-thickness skin graft reconstruction was performed. Treatment for PDS favors wide local excision with a 2–3 cm margin and adjuvant radiotherapy if perineural involvement. We support the following recommendations: full-thickness appropriate tissue diagnosis, pulmonary computed tomography scan, or X-ray to rule out metastasis, followed by a multidisciplinary team evaluation. These complex cases should be presented at a tumor board and tailored treatments should be based on patient risk factors and relevant history.

Abstract Background A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor. Case report A 15-year-old Caucasian male has been presented to our department. He had radiological changes in the area of the left mandibular angle, with an area of diffuse osteolysis of 3.0 cm by 2.0 cm. Computed tomography reveals an area of diffuse osteolysis that starts from the distal root of the lower second molar and reaches the ascending process. A bone biopsy was performed, which revealed a benign proliferative process composed of histiocytic cells involving and infiltrating trabecular bone in a background of loose fibrous connective tissue devoid of any other significant inflammatory infiltrate. The size of the formation was 2.9 cm by 2.0 cm. Immunohistochemical staining for CD68 was strongly positive and negative for S-100 and CD1a. From routine blood tests, cholesterol, triglycerides, and blood sugar are within normal values, which excludes systemic metabolic disease. Subsequent to the surgical intervention, the patient underwent postoperative assessments at intervals of 14, 30, 60 days, and a year later, revealing the absence of any discernible complications during the aforementioned observation periods. Conclusion The diagnosis of primary xanthoma of the mandible is rare and can often be confused with other histiocytic lesions. A differential diagnosis should be made with nonossifying fibroma and Langerhans cell histiocytosis, as in our case. In these cases, immunohistochemistry with CD 68, S-100, and CD1a, as well as blood parameters, are crucial for the diagnosis.

Meihua He,1– 5,&ast; Mingqiang Liu,1– 5,&ast; Xiaohua Tao1– 5,&ast; 1Dermatology Hospital of Jiangxi Province, Nanchang, Jiangxi, People’s Republic of China; 2Jiangxi Provincial Clinical Research Center For Skin Diseases, Nanchang, Jiangxi, People’s Republic of China; 3Candidate Branch of National Clinical Research Center for Skin Diseases, Nanchang, Jiangxi, People’s Republic of China; 4Dermatology Institute of Jiangxi Province, Nanchang, Jiangxi, People’s Republic of China; 5The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Xiaohua Tao, Department of Dermatology, Dermatology Hospital of Jiangxi Province, Nanchang, Jiangxi, 330001, People’s Republic of China, Tel +86 15979086756, Fax +86-0791-85207512, Email taoxiaohua@126.comPurpose: Verruciform xanthoma (VX) is a rare, chronic, and benign lesion affecting the skin and mucous membranes. We reported a case of VX in the vulva of a female child.Patients and Methods: A 12-year-old female had vulvar lesions for over 10 years without any discomfort. Physical examination revealed red lobulated patches on the left labia majora with a few scales attached to the surface. Histopathological examination indicated excessive and incomplete keratinization, hypertrophic spinous layer hyperplasia, neutrophil infiltration in the epidermis, and foam-like tissue could be seen in the dermal papilla. Lymphocyte-dominated inflammatory cell infiltration was scattered around the blood vessels. Immunohistochemical results showed positive CD68.Results: The final diagnosis confirmed the presence of VX.Conclusion: Surgical intervention proved successful in achieving favorable outcomes for the patient.Plain Language Summary: Verruciform xanthoma (VX) is a rare and non-cancerous skin condition that usually appears in the mouth but can occur on the genitals. In this case, a 12-year-old girl had red, warty lesions on her left labia majora for over 10 years. The cause of VX is not well understood but may be linked to inflammation, trauma, or immune disorders rather than lipid metabolism. The girl’s condition was confirmed through a biopsy, and she underwent surgical removal with no recurrence after a year. VX in the genital area is known as Vegas xanthomas. Though VX can look like other skin issues, a detailed examination of tissue samples is crucial for an accurate diagnosis. Treatment options include surgery, laser therapy, or topical creams. While VX is generally benign, seeking medical attention is important to rule out other concerns.Keywords: verruciform xanthoma, labia, child, diagnose, treatment

Herein, we present a patient with a lipidized fibrous histiocytoma, an underrecognized variant of dermatofibroma (cutaneous fibrous histiocytoma). Our patient presented with a nodule on the ankle that showed foamy histiocytes and hyalinized collagen bundles on histology. This case highlights a classic presentation and features of lipidized fibrous histiocytoma, raising further awareness of this distinctive variant of dermatofibroma that should be distinguished from xanthoma and xanthogranuloma.

Key Clinical Message: Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying insulin deficiency, the presence of severe hyperlipidemia with eruptive xanthomas warrants additional consideration. Early initiation of lipid‐lowering agents can expedite the resolution of cutaneous lesions and substantially mitigate the risk of severe complications such as pancreatitis, along with attenuating long‐term cardiovascular risks. Xanthomas are the benign lesions which are generated by localized lipid deposits in the skin, tendons, and subcutaneous tissue. They appear clinically as yellowish papules, nodules, or plaques. Acute pancreatitis and eruptive xanthomas can occur as complications of hyperlipidemia. Uncontrolled diabetes mellitus in one of the risk factors for hypertriglyceridemia. Early recognition and treatment of the eruptive xanthomatosis as a warning sign of hypertriglyceridemia can decrease the morbidity and mortality due to acute pancreatitis. Here, we discuss a case of 37‐years old female patient with uncontrolled type II diabetes mellitus presented with acute pancreatitis and eruptive xanthomas as result of raised triglycerides and uncontrolled diabetes. [ABSTRACT FROM AUTHOR]

Background: A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor. Case report: A 15-year-old Caucasian male has been presented to our department. He had radiological changes in the area of the left mandibular angle, with an area of diffuse osteolysis of 3.0 cm by 2.0 cm. Computed tomography reveals an area of diffuse osteolysis that starts from the distal root of the lower second molar and reaches the ascending process. A bone biopsy was performed, which revealed a benign proliferative process composed of histiocytic cells involving and infiltrating trabecular bone in a background of loose fibrous connective tissue devoid of any other significant inflammatory infiltrate. The size of the formation was 2.9 cm by 2.0 cm. Immunohistochemical staining for CD68 was strongly positive and negative for S-100 and CD1a. From routine blood tests, cholesterol, triglycerides, and blood sugar are within normal values, which excludes systemic metabolic disease. Subsequent to the surgical intervention, the patient underwent postoperative assessments at intervals of 14, 30, 60 days, and a year later, revealing the absence of any discernible complications during the aforementioned observation periods. Conclusion: The diagnosis of primary xanthoma of the mandible is rare and can often be confused with other histiocytic lesions. A differential diagnosis should be made with nonossifying fibroma and Langerhans cell histiocytosis, as in our case. In these cases, immunohistochemistry with CD 68, S-100, and CD1a, as well as blood parameters, are crucial for the diagnosis. [ABSTRACT FROM AUTHOR]

Simple Summary: This study investigated a new imaging technique called ex vivo confocal microscopy to examine rare skin conditions. By analyzing tissue samples from different skin disorders, we found that this technique could accurately identify unique microscopic features of both common and rare skin diseases. Importantly, examiners with more experience in interpreting these images achieved higher accuracy in diagnosis. This suggests that ex vivo confocal microscopy has the potential to be a valuable tool alongside traditional methods for diagnosing rare skin conditions early and accurately, leading to better treatment outcomes for patients. While ex vivo confocal laser scanning microscopy has previously demonstrated its utility in most common skin diseases, its use in the assessment of dermatological entities with lower incidence remains unexplored in most cases. We therefore aimed to evaluate the diagnostic efficacy of some rare skin tumors as well as a few inflammatory skin diseases, that have not yet been studied in ex vivo confocal laser scanning microscopy. A total of 50 tissue samples comprising 10 healthy controls, 10 basal cell carcinoma, 10 squamous cell carcinoma, and 20 rare skin conditions were imaged using the newest generation ex vivo confocal microscopy (Vivascope 2500 M-G4, Vivascope GmbH, Munich, Germany). Three blinded investigators were asked to identify characteristic features of rare skin disorders and distinguish them from more common skin diseases in the ex vivo confocal microscopy images. Our findings present the capability of ex vivo confocal microscopy to display distinctive morphologic patterns in common and rare skin diseases. As might be expected, we found a strong correlation between imaging experience and diagnostic accuracy. While the imaging inexperienced dermatohistopathologist reached 60% concordance, the imaging-trained dermatologist obtained 88% agreement with dermatohistopathology. The imaging-trained dermatohistopathologist achieved concordance up to 92% with gold-standard dermatohistopathology. This study highlights the potential of ex vivo confocal laser scanning microscopy as a promising adjunct to conventional dermatohistopathology for the early and precise identification of rare dermatological disorders. [ABSTRACT FROM AUTHOR]

Severe hypertriglyceridemia can be manifested by xanthomas. Therapeutic plasma exchange (TPE) is an invasive medical procedure that has been documented as a viable approach for severe hypertriglyceridemia when cases would be refractory to conventional therapies. TPE is mainly an optional therapeutic modality for cases of severe acute pancreatitis or preventing the recurrence of pancreatitis. Beyond this clinical application, data are scarce on TPE utilization in managing cutaneous lesions associated with hypertriglyceridemia. We present a case of severe hypertriglyceridemia accompanied by extensive xanthomas of various types and a history of recurrent pancreatitis. After conventional therapy failed, a modified plasmapheresis regimen was used and was able to achieve a fast and marked reduction in the patient's serum triglyceride levels with complete resolution of the extensive cutaneous lesions, providing him a newfound comfort he had not experienced in some time and suggesting the regimen potentially could be considered in the treatment of refractory severe hypertriglyceridemia with debilitating cutaneous complications. [ABSTRACT FROM AUTHOR]

Summary: Background and Objectives: Previous work has demonstrated that hydrochlorothiazide (HCTZ) is a risk factor for squamous cell carcinomas (SCC) and basal cell carcinomas (BCC) due to pro‐photocarcinogenic effects. Atypical fibroxanthoma (AFX) and pleomorphic sarcoma (PDS), both ultraviolet‐induced cancers, display a rare but rising cutaneous tumor entity. This study aimed to evaluate if the use of HCTZ is higher in patients with AFX/PDS than in patients with SCC/BCC and subsequently may be a risk factor for AFX/PDS‐development. Patients and Methods: In a retrospective study of four German skin cancer centers, AFX/PDS cases and SCC/BCC controls were sex and age matched (1:3) over a time‐period of 7 years (2013–2019) to evaluate the use of HCTZ, immunosuppressive medication, second malignancies, and presence of diabetes mellitus. Results: Overall, 146 AFX/PDS and 438 controls (SCC/BCC) were included in the study. The use of HCTZ was significantly higher in patients with AFX/PDS (44.5%) compared to patients with SCC/BCC (25.3%). Additionally, the presence of diabetes mellitus was significantly higher in AFX/PDS patients. Conclusions: This study demonstrates a significantly higher use of HCTZ in patients with AFX/PDS compared to SCC/BCC. This result suggests that HCTZ may be a risk factor for AFX/PDS. Additionally, diabetes mellitus or its comorbidities may be associated with an increased risk for AFX/PDS. [ABSTRACT FROM AUTHOR]

A xanthoma is an extremely rare condition that affects the soft tissues and bones and is characterized by a predominance of lipid-rich foamy histiocytes. The onset of xanthomas is frequently accompanied by primary or secondary hyperlipidemia. Primary bone xanthomas are very uncommon benign bone lesions that are not linked to hyperlipidemia. Histopathologically, they are distinguished by histiocytes, an abundance of foam cells or xanthoma cells that contain lipids, and a paucity of multinucleated giant cells. There have only been four reports of primary maxillary xanthoma in the medical literature. We present a rare primary intrabony xanthoma of the anterior maxilla in a 23-year-old normolipidemic female patient with solitary radiolucency. Using CD68, S-100, and CD1a immunohistochemical staining, it is possible to distinguish between macrophage/non-Langerhans histiocytes and Langerhans histiocytes. Therefore, a diagnosis of a central xanthoma of the jaws must be made. [ABSTRACT FROM AUTHOR]

This case report describes an 80-year-old man who presented with a growing erythematous nodule with erosion, measuring 0.6 cm × 0.6 cm, on his right temple. This lesion was later diagnosed as atypical fibroxanthoma (AFX). Instead of undergoing Mohs surgery, the gold standard treatment, the patient opted to pursue a topical treatment regimen because of financial costs associated with surgical removal and repair. This topical regimen consisted of tazarotene cream, imiquimod cream, and 5-fluorouracil solution, applied for 30 days. The patient was directed to use this combination 5 days per week for 6 weeks. The specified dosage for each medication was a fifth of a packet of imiquimod 5% cream, an equivalent amount of tazarotene 0.1% cream, and a single drop of 5-fluorouracil 2% solution. These were combined on a bandage and placed on the lesion overnight. Following the treatment, a 3-week post-application examination revealed an erosion, 1.0 cm × 0.9 cm, amidst erythema. A subsequent incisional biopsy with histopathology and stains for CD10 and CD99, 3 weeks after treatment, and three punch biopsies with histopathology and stains for CD10 and CD99, 1-year post-treatment, confirmed the absence of AFX. AFX is a superficial variant of pleomorphic dermal sarcoma (PDS), which shares histologic similarities, yet the exact relationship between AFX/PDS and undifferentiated pleomorphic sarcoma is still not well understood. Previous studies have indicated a genomic similarity between AFX/PDS and cutaneous squamous cell carcinoma (cSCC), which suggests the potential efficacy of cSCC-targeted treatments for AFX/PDS. This case marks the first recorded instance of successful topical medical treatment of AFX, offering an alternative for patients who may opt out of surgical intervention. Continued research to assess the broader efficacy of this approach is encouraged. [ABSTRACT FROM AUTHOR]

Objective There are many skin diseases that might present as yellowish skin lesions initially or during the course of the disease. The objective of the study is to record all patients that have yellowish rash during the progress of the disease and according to daily clinical practice and their importance in dermatology and general medicine. Methods All patients that had yellowish skin rash during the course of the disease were enrolled during the period from February 2014 to March 2021.They were well-assessed and classified. Clinical photographs with some histopathological findings were recorded. Results The following diseases were classified to have yellow skin rash initially or during the course of the disease and their frequencies were calculated, in addition to the medical importance to patients and dermatologists: 1- Histiocytosis- xanthogranuloma group. 2- Xanthoma groups. 3- Xanthomatous morphea. 4- Keratoderma. 5- Calcinosis cutis. 6- Systemic sclerosis. 7- Pseudoxanthoma elasticum. 8- Papular mucinosis. 9- Necrobiosis lipoidica. 10- Xanthomastocytoma. 11- Yellow nail syndrome. 12- Ecchymosis. 13-Nevus sebaceous. 14- Sebaceous hyperplasia. 15-Nevus anemicus. 16-Yellow teeth. In addition, anemia and jaundice usually present as generalized yellowish skin discoloration. Conclusion Yellow dermatology is a group of diseases that characteristically presents with yellowish skin lesions initially or during the progression of the disease. They are well classified to be informative in medical practice and teaching sessions. The cause of this color is different according to the disease status as could be fat deposition, fat engulfing cells, connective tissue degeneration, sebaceous cells hyperplasia, hemoglobin and hemosiderin deposition, vasoconstriction, or unknown reason. [ABSTRACT FROM AUTHOR]

Key Clinical Message An 83‐year‐old man presented an elevated skin lesion in the left temporal area. The resected specimen was identified between a basal cell carcinoma and an atypical fibroxanthoma. A final diagnosis of basal cell carcinoma and atypical fibroxanthoma was made. This study reports a rare case of a cutaneous collision.

Abstract This case report describes an 80-year-old man who presented with a growing erythematous nodule with erosion, measuring 0.6 cm × 0.6 cm, on his right temple. This lesion was later diagnosed as atypical fibroxanthoma (AFX). Instead of undergoing Mohs surgery, the gold standard treatment, the patient opted to pursue a topical treatment regimen because of financial costs associated with surgical removal and repair. This topical regimen consisted of tazarotene cream, imiquimod cream, and 5-fluorouracil solution, applied for 30 days. The patient was directed to use this combination 5 days per week for 6 weeks. The specified dosage for each medication was a fifth of a packet of imiquimod 5% cream, an equivalent amount of tazarotene 0.1% cream, and a single drop of 5-fluorouracil 2% solution. These were combined on a bandage and placed on the lesion overnight. Following the treatment, a 3-week post-application examination revealed an erosion, 1.0 cm × 0.9 cm, amidst erythema. A subsequent incisional biopsy with histopathology and stains for CD10 and CD99, 3 weeks after treatment, and three punch biopsies with histopathology and stains for CD10 and CD99, 1-year post-treatment, confirmed the absence of AFX. AFX is a superficial variant of pleomorphic dermal sarcoma (PDS), which shares histologic similarities, yet the exact relationship between AFX/PDS and undifferentiated pleomorphic sarcoma is still not well understood. Previous studies have indicated a genomic similarity between AFX/PDS and cutaneous squamous cell carcinoma (cSCC), which suggests the potential efficacy of cSCC-targeted treatments for AFX/PDS. This case marks the first recorded instance of successful topical medical treatment of AFX, offering an alternative for patients who may opt out of surgical intervention. Continued research to assess the broader efficacy of this approach is encouraged.

We present the case of a 99-year-old Caucasian female who was referred for treatment of a painless, 8.0 cm × 7.8 cm exophytic, pedunculated, ulcerated tumor of the left medial canthus. Pathology showed spindled, oval, and polygonal cells with pleomorphic nuclei. Many multinuclear giant cells and mitotic figures were also noted. The tumor was highlighted with CD10, showed focal positivity with actin, desmin, and CD68, and had increased Ki67 immunohistochemical staining. The tumor was negative for pancytokeratin, CK5/6, p63, MART-1/MelanA, S100, Sox10, p40, CD34, and CD23. Based on clinicopathologic correlation, the diagnosis of pleomorphic dermal sarcoma (PDS) was made. Pleomorphic dermal sarcoma (PDS) refers to a deep, histologically high-grade tumor that often resembles other tumors clinically and histologically. As PDS is frequently aggressive and related to adverse outcomes, it is important to recognize its distinguishing features in comparison to other similar entities, including atypical fibroxanthoma (AFX) and pleomorphic leiomyosarcoma (PLMS). To our knowledge, there is only one other reported case in the literature of PDS occurring on the eye. By reviewing and understanding characteristic etiologies, locations of presentation, histopathological features, and management techniques, pathologists can make a more accurate diagnosis and dermatologists can provide more effective patient care in a timely manner. [ABSTRACT FROM AUTHOR]

The case reported here is a large non‐ossifying fibroma (NOF) of the mandible presenting in a 24‐year‐old male patient. The lesion was diagnosed through radiological and histopathological assessment. It remains under observation without surgical intervention, despite its large size, as the extensive surgery to remove it is not currently justifiable. Whilst common at the metaphysis of the long bones in paediatric patients, NOFs are rarely observed in the jaw bones. These benign fibrous lesions are often asymptomatic and may be an incidental radiological finding. Most NOFs of the limbs presenting in children will not require any treatment, and spontaneously resolve when growth ceases. However, regarding mandibular lesions, the majority of historical cases have been successfully treated with curettage and do not recur. Due to their scarcity, the outcomes for untreated NOFs of the gnathic bones are not reliably known. We discuss the clinical, radiological and histopathological findings for this case. A thorough literature review of previous reports of this rare entity reveals the typical characteristics and behaviour of this lesion. [ABSTRACT FROM AUTHOR]

Objectives: Xanthelasma palpebrarum (XP) is the most common type of cutaneous xanthoma, characterized by yellowish cutaneous plaques commonly located near the medial canthus of the eyelid. Although dyslipidemia significantly contributes to its development, inflammation is also believed to be another element in the pathogenesis, especially in normolipidemic patients. Recently, cell counts derived from complete blood counts have been identified as indicators of systemic inflammatory conditions and have also been under discussion concerning their relevance to ocular diseases. This study aimed to assess inflammation indices derived from complete blood cell counts (CBC) in XP patients with normal lipid levels. Methods: Patients who had been referred to the oculoplasty department with the diagnosis of XP between January 2020 and January 2023 and age-matched control subjects were retrospectively reviewed. Patients who had abnormal lipid profiles and systemic diseases such as diabetes mellitus, hypertension, malignancy, cardiovascular diseases, systemic infections, and inflammatory diseases were not included in the study. CBC parameters were analyzed and compared between the groups. Results: The study comprised 27 normolipidemic patients with XP and 27 age-matched healthy individuals as the control group. There were no statistically significant differences between the two groups in terms of age (p=0.143). The mean hemoglobin, neutrophil, monocyte, lymphocyte, platelet, neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, systemic immune-inflammation index, and aggregate index of systemic inflammation values were higher in the patient group, but the differences were not statistically significant (p>0.05). The mean red cell distribution width and plateletto-lymphocyte ratio appeared to be lower in the patient group compared to the control group; however, no significant differences were observed between the two groups (p=0.272, p=0.387, respectively). Conclusion: This study might offer insights into the pathogenesis of XP, yet numerous questions remain unanswered, awaiting further investigation in future studies. [ABSTRACT FROM AUTHOR]

Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent diarrhea, early cataracts, xanthomas, cognitive decline, ataxia, neuropathy, and other manifestations of CTX. Magnetic resonance imaging (MRI) brain in all three patients revealed abnormalities consistent with CTX. Diagnosis was confirmed by next-generation sequencing. Chenodeoxycholic acid (CDCA) is recommended as the drug of choice, as it can halt the disease progression and reverse some of the symptoms. In addition to late diagnosis, nonavailability of CDCA in our part of world adds to the problem of management of such patients; therefore, they are often started on alternative therapies, which are less effective. [ABSTRACT FROM AUTHOR]

Background: Xanthogranuloma (xanthoma) presents as a rare, non-infectious granulomatous lesion with a yellowish and soft appearance. Hypercholesterolemia and hyperlipidemia are believed to be the underlying causes of this lesion. Xanthoma has been identified in vertebrates and humans. Objectives: This report presents a case of cutaneous xanthogranuloma located in the tibiotarsal region of a 5-year-old rose-breasted cockatoo (Eolophus roseicapilla) fed with high-fat diets. Methods: The cockatoo underwent anesthesia using isoflurane administered through a face mask connected to an Ohmeda anesthesia machine. The mass was surgically removed and submitted for histopathological examination. The tissue was fixed in 10% neutral buffered formalin, and representative sections were routinely processed for hematoxylin and eosin (H&E) staining. Moreover, frozen sections were obtained and stained with the Oil Red O technique. Results: Upon histopathologic examination of routine H&E slides, vacuolated macrophages, and multinucleated giant cells were noted in addition to cholesterol clefts and heterophilic infiltrates. Oil Red O staining was performed to detect intracellular and extracellular lipid content. Xanthogranulomas invaded the surrounding tissues, necessitating complete surgical excision. The lesion did not recur during the 1-month follow-up, but the patient died due to respiratory disorders. Conclusion: Stress and high-lipid feed consumption were considered the predisposing factors to xanthogranuloma development in this bird. [ABSTRACT FROM AUTHOR]

Pleomorphic dermal sarcoma (PDS) is a rare dermal-based mesenchymal tumor that shares histologic characteristics with atypical fibroxanthoma (AFX), but demonstrates aggressive features increasing the risk of local recurrence or metastases. We report a unique case of a 62-year-old man with a recent history of left-groin PDS, now with a 2-cm pedunculated left tonsillar mass and two hypermetabolic nodules in the left thyroid. Microscopically, the tonsillar biopsy demonstrated infiltrating spindle cell neoplasm composed of highly pleomorphic tumor cells with abundant mitoses. The left hemithyroidectomy specimen also demonstrated similar pleomorphic spindled tumor cells infiltrating thyroid parenchyma with perineural invasion and focal osseous and chondroid components. Immunohistochemically, both tumors were diffusely positive for smooth muscle actin. Focal nonspecific positive staining with p53, SATB2, and S100 was observed in the thyroid tumor. Additional markers, including p40, CK5, p63, pancytokeratin, CAM5.2, S100, SOX10, Melan-A, HMB45, CD45, CD68, CD163, caldesmon, p16, TTF1, PAX8, and calcitonin, were all negative. INI-1 expression was retained. Molecular analysis showed that the tumor harbored PDGFRA deletion of exon 9 and amplification, PTCH1 A300fs*24, MDM2 amplification, CDKN2A/B loss, and FRS2 amplification. Compared with the patient's groin tumor, the current tumors showed similar morphology. Overall, the histologic and immunohistochemical findings are consistent with metastatic PDS to the tonsil and thyroid. Although PDS is commonly found on the sun-exposed skin in the elderly, this case highlights an unusual primary site as well as peculiar locations for the metastasis of PDS. Treatment and management of the patient are also considered. [ABSTRACT FROM AUTHOR]

Key Clinical Message Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying insulin deficiency, the presence of severe hyperlipidemia with eruptive xanthomas warrants additional consideration. Early initiation of lipid‐lowering agents can expedite the resolution of cutaneous lesions and substantially mitigate the risk of severe complications such as pancreatitis, along with attenuating long‐term cardiovascular risks. Abstract Xanthomas are the benign lesions which are generated by localized lipid deposits in the skin, tendons, and subcutaneous tissue. They appear clinically as yellowish papules, nodules, or plaques. Acute pancreatitis and eruptive xanthomas can occur as complications of hyperlipidemia. Uncontrolled diabetes mellitus in one of the risk factors for hypertriglyceridemia. Early recognition and treatment of the eruptive xanthomatosis as a warning sign of hypertriglyceridemia can decrease the morbidity and mortality due to acute pancreatitis. Here, we discuss a case of 37‐years old female patient with uncontrolled type II diabetes mellitus presented with acute pancreatitis and eruptive xanthomas as result of raised triglycerides and uncontrolled diabetes.

Tuberous xanthomas are nontender, yellow to red papules to nodules that occur on the extensor surface, and trauma-prone areas such as the elbows, knees, Achilles tendon, and buttocks. A 10-year-old female child born out of second-degree consanguineous marriage presented with multiple skin-colored nodular lesions on axillary folds, both elbows, cubital fossa, medial side of the wrist, interphalangeal joints, buttocks, knees, popliteal fossa, and Achilles tendons. After complete evaluation, diagnosis of familial hypercholesterolemia type IIa with tuberous xanthoma was made. Tuberous xanthoma usually presents in combined type III dyslipidemias, but in our case, it is presented in type IIa familial hypercholesterolemia. Early diagnosis and treatment of familial hypercholesterolemia are important for preventing complications.

We present the case of a 99-year-old Caucasian female who was referred for treatment of a painless, 8.0 cm × 7.8 cm exophytic, pedunculated, ulcerated tumor of the left medial canthus. Pathology showed spindled, oval, and polygonal cells with pleomorphic nuclei. Many multinuclear giant cells and mitotic figures were also noted. The tumor was highlighted with CD10, showed focal positivity with actin, desmin, and CD68, and had increased Ki67 immunohistochemical staining. The tumor was negative for pancytokeratin, CK5/6, p63, MART-1/MelanA, S100, Sox10, p40, CD34, and CD23. Based on clinicopathologic correlation, the diagnosis of pleomorphic dermal sarcoma (PDS) was made. Pleomorphic dermal sarcoma (PDS) refers to a deep, histologically high-grade tumor that often resembles other tumors clinically and histologically. As PDS is frequently aggressive and related to adverse outcomes, it is important to recognize its distinguishing features in comparison to other similar entities, including atypical fibroxanthoma (AFX) and pleomorphic leiomyosarcoma (PLMS). To our knowledge, there is only one other reported case in the literature of PDS occurring on the eye. By reviewing and understanding characteristic etiologies, locations of presentation, histopathological features, and management techniques, pathologists can make a more accurate diagnosis and dermatologists can provide more effective patient care in a timely manner.

Objective To analyze the clinical characteristics and genotype of a patient with congenital systemic lipodystrophy (CGL) type 1 associated with exudative xanthoma caused by AGPAT2 gene mutation, and to provide evidence for clinical and genetic diagnosis of the disease.Methods Clinical data of the patient such as medical history, physical examination and laboratory examination were collected. Peripheral venous blood was collected for whole exome sequencing analysis and Sanger sequencing verification, and treatment was provided to patients according to the changes of condition. Results The clinical manifestations of the patient were subcutaneous fat reduction, fatty liver, spleen enlargement, kidney enlargement, high blood sugar and lipids, severe insulin resistance, scattered yellow rash on limbs, which was confirmed as xanthoma. The results of whole exon sequencing showed that the AGPAT2 gene of the patient had a heterozygous nonsense mutation of c.202C＞T:p.R68* and c.646A＞T:p.K216*, and the former was the pathogenic mutation site. Follow-up therapy covers improvement of lifestyle, low-fat diet and regular exercise. The rashes subsided after active lipid-lowering therapy. Conclusions Apart from typical lipody-strophy, the patient was accompanied by exanthemous xanthoma. No CGL1 patient with exanthemous xanthoma has been reported in the domestic literature database up to now, and the genetic test results showed that there was a c.202C＞T heterozygous mutation of AGPAT2 gene. This gene site has not been reported in the literature, and its functional verification needs to be further studied.

Atypical fibroxanthoma is a rare cutaneous malignancy that usually presents as a rapidly growing red papule on the head and neck in elderly white males. Several variants have been described. We report a patient who presented with a slowly enlarging pigmented lesion on his left ear that was clinically worrisome for malignant melanoma. Histopathologic evaluation with immunohistochemistry revealed an unusual case of hemosiderotic pigmented atypical fibroxanthoma. The tumor was successfully extirpated with Mohs micrographic surgery, with no recurrence at 6-month follow-up.