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Orbit (Amsterdam, Netherlands) Dec 2023A 66-year-old man presented with chronic bilateral periorbital edema with associated yellowish hue, scattered violaceous smooth macules and contracture of the forehead....
A 66-year-old man presented with chronic bilateral periorbital edema with associated yellowish hue, scattered violaceous smooth macules and contracture of the forehead. He had undergone dental surgery 3 months prior to symptom onset. Laboratory workup for common causes of eyelid edema was unremarkable and MRI of the orbits was unrevealing. The patient did not respond to oral corticosteroids or antibiotics. Punch biopsies were obtained which revealed atypical lymphatic endothelial cells consistent with a diagnosis of cutaneous angiosarcoma.The patient was deemed not to be a surgical candidate and underwent 3 cycles of immunotherapy with limited response. He declined further treatment and transitioned to hospice care. Although cutaneous angiosarcoma uncommonly involves the periorbital region, it should be considered in the differential diagnosis of eyelid edema as early recognition and treatment are critical to prevent rapid intradermal spread and metastases.
Topics: Male; Humans; Aged; Hemangiosarcoma; Endothelial Cells; Skin Neoplasms; Edema
PubMed: 35467482
DOI: 10.1080/01676830.2022.2056901 -
Archives of Dermatological Research Aug 2023Millions of people throughout the world suffer from the acquired condition of hyperpigmentation known as melasma. Melasma is characterized by symmetrically oriented...
Millions of people throughout the world suffer from the acquired condition of hyperpigmentation known as melasma. Melasma is characterized by symmetrically oriented hyperpigmented macules and patches. Many treatment options are available with variable degrees of efficacy and tolerability. The aim of the work was to evaluate and compare the effectiveness and safety of intradermal tranexamic acid (TXA) versus intradermal platelet-rich plasma (PRP) in the treatment of various types of melasma. The current split-face prospective study included 40 cases with melasma. Tranexamic acid (TXA) was injected intradermally into the right side of the face by using a concentration of 4 mg/ml, while platelet-rich plasma (PRP) was injected intradermally into the left side. In both sides, a total of three sessions of treatment were provided, once every 4 weeks. Digital photographs were taken before each treatment session and 3 months after the last session. The modified melasma area severity index (mMASI) grading system and dermoscopy were used to assess the improvement in the condition. The disease severity and percentage of improvement were assessed by mMASI score before and after therapy across both sides of the face. along with determining the degree of satisfaction and side effects among the included cases. The mean mMASI score before therapy in the TXA side was 4.59 ± 2.87, while in the PRP side, the mean mMASI score before therapy was 4.72 ± 2.72 with no statistically significant difference between the two sides (p = 0.841). After 3 months of treatment, the mean mMASI score in the TXA-treated side was 2.49 ± 1.58 with a mean percentage of decrease of 45.67 ± 8.10%, while in the PRP side, the mean mMASI score after treatment was 2.17 ± 1.41 with a mean percentage of decrease of 53.66 ± 11.27%. There was a high statistically significant decrease in the mMASI score after treatment on both sides (p < 0.001); however, the percentage of score reduction in the PRP side compared to the TXA side was statistically higher. Intradermal injection with PRP revealed higher efficacy in the treatment of melasma as compared to TXA injection with no significant difference regarding the associated side effects.
Topics: Humans; Injections, Intradermal; Treatment Outcome; Tranexamic Acid; Prospective Studies; Melanosis; Platelet-Rich Plasma
PubMed: 36856856
DOI: 10.1007/s00403-023-02580-y -
Acta Dermatovenerologica Croatica : ADC Dec 2023A 38-year-old Hispanic man without comorbidities presented to our dermatology clinic for the evaluation of an asymptomatic dark macule on his left hand, which had...
A 38-year-old Hispanic man without comorbidities presented to our dermatology clinic for the evaluation of an asymptomatic dark macule on his left hand, which had gradually grown since he was a child. The hyperpigmentation involved the dorsum and palm (Figure 1). The patient was right-handed and denied previous trauma, inflammation, occupational exposure to chemicals, or using any medications. During physical examination, no other similar pigmentation was found on the rest of his body. An incisional biopsy of the left palm was performed (Figure 2). The histopathology revealed the presence of spindle-shaped cells with melanin granules in the superficial and middle dermis, surrounding the blood vessels, and between collagen bundles, which are findings compatible with acquired dermal melanocytosis (1,2). On dermoscopy, we found a pattern of regular pigment with a gray-brown tone and whitish spots within. We discussed the benignity of this rare entity with the patient, and he decided not to pursue treatment. Acquired dermal melanocytosis (ADM) is a rare condition, with isolated presentation on the hand and with less than 10 cases reported (1). Dermal melanocytosis includes several benign pigmented lesions histologically characterized by the presence of melanocytes in the dermis, which are spindle-shaped dendritic cells containing brown melanin pigment. Melanocytes can also be identified with immunoperoxidase staining for S100 and Fontana-Masson melanin stain (2). The physiopathology of ADM remains unclear, but it has been proposed that it involves reactivation of latent dermal melanocytes due to external factors such as trauma, inflammation, chemical exposure, sunlight, drugs, and hormonal treatment with estrogen and/or progesterone (3). ADM with hand involvement usually appears in the Asian population without sex predilection. The lesions develop in adolescence or young adulthood and tend to affect both hands and other body areas such as the face or the legs; there have also been two reported cases in the Hispanic population (both by Fitzpatrick III) (3,4). ADM must be differentiated from ectopic Mongolian spots, plaque-type blue nevi, tinea nigra, or other pigmented neoplasms. A biopsy is mandatory to establish a proper diagnosis. Ectopic Mongolian spots and plaque-type blue nevi are both congenital dermal melanocytoses that may present as bluish macules on the hand. However, these lesions show deep and more widely scattered distribution of melanocytes (1). There have also been some reports of malignant melanoma and acquired dermal melanocytosis that appeared on congenital nevus spilus (5). ADM is a benign condition, and reassurance should be offered to these patients.
Topics: Adult; Humans; Male; Hispanic or Latino; Inflammation; Melanins; Nevus, Blue; Skin Neoplasms
PubMed: 38439726
DOI: No ID Found -
Cutis Jan 2024
Topics: Humans; Radiation Protection; Skin Abnormalities
PubMed: 38478929
DOI: 10.12788/cutis.0953 -
Pediatric Dermatology 2023Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well-demarcated dark blue, red-purple, or...
BACKGROUND/OBJECTIVES
Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well-demarcated dark blue, red-purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams-Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low.
METHODS
We performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies.
RESULTS
We included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time.
CONCLUSION
Our study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.
PubMed: 37442634
DOI: 10.1111/pde.15377 -
Oral Surgery, Oral Medicine, Oral... Apr 2024To evaluate the prevalence of oral manifestations of leprosy. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate the prevalence of oral manifestations of leprosy.
STUDY DESIGN
This systematic review with meta-analysis was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and included cross-sectional studies by 2 independent reviewers in 2 phases, who reported bacilloscopic-confirmed oral manifestations of leprosy. Studies were selected based on predetermined eligibility criteria. Searches in 6 main databases were performed, such as PubMed/MEDLINE, Embase, Scopus, Web of Science, LILACS/BVS, and LIVIVO, in addition to the gray literature. The risk of bias was assessed using the JBI Checklist for Analytical Cross-Sectional Studies, and the quantitative synthesis of the data was performed using the Jamovi 2.3 application.
RESULTS
Ten studies were included, and the meta-analysis was performed with 917 patients with different types of leprosy. The overall prevalence of oral alterations was 6.0% (95% IC, 0.02-0.11; I = 97.01%; Q = 75.56), with plaques (27.2%), infiltrations (18.1%), and macules (15.1%) being the most prevalent fundamental lesions, especially in multibacillary patients.
CONCLUSIONS
Even though there is no oral pathognomonic lesion of leprosy, this infectious disease can manifest in oral tissues in different ways, depending mainly on the leprosy type and stage of treatment.
Topics: Humans; Cross-Sectional Studies; Prevalence; Leprosy
PubMed: 38262774
DOI: 10.1016/j.oooo.2023.12.787 -
Indian Journal of Dermatology,... Apr 2024Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with...
Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with telangiectasias, preferably on bilateral upper arms and trunk. We reported a 56-year-old Chinese man with telangiectasia macularis multiplex acquisita. Dermoscopic examination demonstrated an erythematous-brownish background with a striking angioid streak pattern (a central arteriole with superficial radiating small vessels attributed to spider-like eruptions) and linear-irregular branching vessels. We suggest dermoscopic features can be used to improve the accuracy of clinical diagnosis and avoid unnecessary skin biopsies.
PubMed: 38841960
DOI: 10.25259/IJDVL_762_2023 -
Skin Appendage Disorders Aug 2023Localized longitudinal erythronychia is defined as a single nail with a longitudinal red band extending the length of a nail plate. It has a broad differential of benign...
INTRODUCTION
Localized longitudinal erythronychia is defined as a single nail with a longitudinal red band extending the length of a nail plate. It has a broad differential of benign and malignant etiologies, and is rarely due to benign vascular proliferations.
CASE PRESENTATION
We present a unique case of nail unit arteriovenous hemangioma presenting as longitudinal erythronychia of the left thumbnail in a 76-year-old male. The band was 6 mm and encompassed over 40% of the surface area of the nail plate. Dermoscopy showed red bands that were regular in terms of color, but not thickness or spacing. Due to concern for an amelanotic melanoma, a longitudinal excision was performed. Histopathology was consistent with a diagnosis of nail unit arteriovenous hemangioma.
CONCLUSION
Arteriovenous hemangiomas were rarely present in the nail unit. They can be present as a blue or red nodule/macule, or as longitudinal erythronychia. Diagnosis often requires an excisional biopsy, with histopathology notable for a proliferation of multiple thick- and thin-walled vascular structures lined by a flattened endothelium. Our case emphasizes the need to consider vascular proliferations, such as arteriovenous hemangioma, in the differential diagnosis of longitudinal erythronychia.
PubMed: 37588479
DOI: 10.1159/000530739 -
JAAD Case Reports Apr 2024
PubMed: 38617890
DOI: 10.1016/j.jdcr.2024.01.040 -
Acta Neuropathologica Communications Nov 2023Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis, a dominantly inherited disorder with...
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis, a dominantly inherited disorder with increased risk of colorectal carcinomas and other tumors. POLE/POLD1 variants may result in high somatic mutation and neoantigen loads that confer susceptibility to immune checkpoint inhibitors (ICIs). To explore the role of POLE/POLD1 germline variants in glioma predisposition, whole-exome sequencing was applied to leukocyte DNA of glioma patients from 61 tumor families with at least one glioma case each. Rare heterozygous POLE/POLD1 missense variants predicted to be deleterious were identified in glioma patients from 10 (16%) families, co-segregating with the tumor phenotype in families with available DNA from several tumor patients. Glioblastoma patients carrying rare POLE variants had a mean overall survival of 21 months. Additionally, germline variants in POLD1, located at 19q13.33, were detected in 2/34 (6%) patients with 1p/19q-codeleted oligodendrogliomas, while POLE variants were identified in 2/4 (50%) glioblastoma patients with a spinal metastasis. In 13/15 (87%) gliomas from patients carrying POLE/POLD1 variants, features of defective polymerase proofreading, e.g. hypermutation, POLE/POLD1-associated mutational signatures, multinucleated cells, and increased intratumoral T cell response, were observed. In a CRISPR/Cas9-derived POLE-deficient LN-229 glioblastoma cell clone, a mutator phenotype and delayed S phase progression were detected compared to wildtype POLE cells. Our data provide evidence that rare POLE/POLD1 germline variants predispose to gliomas that may be susceptible to ICIs. Data compiled here suggest that glioma patients carrying POLE/POLD1 variants may be recognized by cutaneous manifestations, e.g. café-au-lait macules, and benefit from surveillance colonoscopy.
Topics: Humans; DNA Polymerase II; Glioblastoma; Catalytic Domain; Germ-Line Mutation; Glioma; DNA; DNA Polymerase III
PubMed: 37990341
DOI: 10.1186/s40478-023-01689-5