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Current Health Sciences Journal 2020Due to the high incidence of skin tumors, the development of computer aided-diagnosis methods will become a very powerful diagnosis tool for dermatologists. The skin...
Due to the high incidence of skin tumors, the development of computer aided-diagnosis methods will become a very powerful diagnosis tool for dermatologists. The skin diseases are initially diagnosed visually, through clinical screening and followed in some cases by dermoscopic analysis, biopsy and histopathological examination. Automatic classification of dermatoscopic images is a challenge due to fine-grained variations in lesions. The convolutional neural network (CNN), one of the most powerful deep learning techniques proved to be superior to traditional algorithms. These networks provide the flexibility of extracting discriminatory features from images that preserve the spatial structure and could be developed for region recognition and medical image classification. In this paper we proposed an architecture of CNN to classify skin lesions using only image pixels and diagnosis labels as inputs. We trained and validated the CNN model using a public dataset of 10015 images consisting of 7 types of skin lesions: actinic keratoses and intraepithelial carcinoma/Bowen disease (akiec), basal cell carcinoma (bcc), benign lesions of the keratosis type (solar lentigine/seborrheic keratoses and lichen-planus like keratosis, bkl), dermatofibroma (df), melanoma (mel), melanocytic nevi (nv) and vascular lesions (angiomas, angiokeratomas, pyogenic granulomas and hemorrhages, vasc).
PubMed: 32874685
DOI: 10.12865/CHSJ.46.02.06 -
Case Reports in Dermatology 2021We report the case of a healthy 26-year-old man presenting telangiectatic macules on the left thorax and arm since childhood. The main diagnostic hypothesis were...
We report the case of a healthy 26-year-old man presenting telangiectatic macules on the left thorax and arm since childhood. The main diagnostic hypothesis were unilateral nevoid telangiectasia (UNT), hereditary benign telangiectasia, atrial myxoma, segmental serpiginous angioma, circumscribed neviform angiokeratoma, and nevus vascularis mixtus. The diagnosis retained was UNT characterized by congenital or acquired telangiectasia distributed asymmetrically along the upper extremities, or the third or fourth cervical dermatomes. The congenital form is extremely rare, predominant in men, and persists in adulthood. The acquired form is most frequent, affects preferentially women, usually appears at puberty or during pregnancy and tends to disappear. Estrogen excess triggers the formation of telangiectasia. UNT is rarely associated with liver or thyroid disorder. Pulsed-dye lasers and normalization of estrogen are proposed as therapeutic options. We report a rare diagnosis of UNT in a young man with no other underlying condition. We would like to highlight that in the presence of unilateral telangiectasia, a complete clinical examination must be performed to rule out signs of hyperestrogenism in man, ocular or neurological abnormalities, a blood test to exclude pregnancy, hepatic and thyroid dysfunctions, and ultrasonography in case of suspicion of atrial myxoma.
PubMed: 34326726
DOI: 10.1159/000514941 -
Dermatology Online Journal Aug 2021We describe a patient with leukemia undergoing chemotherapy who developed painful purpuric nodules of the digits. These findings were concerning for endocarditis...
We describe a patient with leukemia undergoing chemotherapy who developed painful purpuric nodules of the digits. These findings were concerning for endocarditis (clinically) and angiokeratomas on gross histology. After extensive evaluation, we report the development of painful purpuric nodules as a likely side effect of the patient's therapeutic regimen (hydroxyurea, danorubicin, cytarabine, and methotrexate).
Topics: Angiokeratoma; Antineoplastic Combined Chemotherapy Protocols; Cytarabine; Daunorubicin; Diagnosis, Differential; Female; Hand Dermatoses; Humans; Hydroxyurea; Leukemia; Methotrexate; Middle Aged; Purpura; Skin Neoplasms
PubMed: 34755962
DOI: 10.5070/D327854702 -
International Journal of Molecular... Jul 2021Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000... (Meta-Analysis)
Meta-Analysis Review
Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only for the north-western Italy, where it is of approximately 1:4000. Clinical symptoms include angiokeratomas, corneal dystrophy, and neurological, cardiac and kidney involvement. The prevalence of symptomatic female carriers is about 70%, and in some cases, they can exhibit a severe phenotype. Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked disease, including Fabry disease. In this review, we briefly summarize the disease, focusing on the clinical symptoms of carriers and analysis of the studies so far published in regards to X chromosome inactivation pattern, and manifesting Fabry carriers. Out of 151 records identified, only five reported the correlation between the analysis of XCI in leukocytes and the related phenotype in Fabry carriers, in particular evaluating the Mainz Severity Score Index or cardiac involvement. The meta-analysis did not show any correlation between MSSI or cardiac involvement and skewed XCI, likely because the analysis of XCI in leukocytes is not useful for predicting the phenotype in Fabry carriers.
Topics: Fabry Disease; Female; Heterozygote; Humans; Male; Mutation; Phenotype; X Chromosome Inactivation; alpha-Galactosidase
PubMed: 34299283
DOI: 10.3390/ijms22147663 -
Journal of Cosmetic Dermatology Mar 2022Lasers have great importance in the management of vascular skin lesions.
BACKGROUND
Lasers have great importance in the management of vascular skin lesions.
AIM
To determine the efficacy of 577-nm pro-yellow laser in cure of certain vascular skin diseases.
MATERIAL AND METHODS
Seventy-four patients who are diagnosed as vascular skin diseases were involved in this study. All participants were treated with 577-nm pro-yellow laser with 4-week intervals. The photographs that were taken before and at every following visit were used to evaluate improvement.
RESULTS
A significant improvement occurred in port-wine stain, rosacea, facial telangiectasia, venous lake, scrotal angiokeratoma, and cherry angioma cases.
CONCLUSION
Vascular skin lesions can be treated with 577-nm pro-yellow laser with a minimal adverse effect and great success rate.
Topics: Humans; Lasers; Port-Wine Stain; Skin Diseases, Vascular; Telangiectasis; Treatment Outcome
PubMed: 33872451
DOI: 10.1111/jocd.14162 -
Journal of Pediatric and Adolescent... Aug 2019We present an adolescent with multiple vulvar angiokeratomas within a background of lichen sclerosus.
BACKGROUND
We present an adolescent with multiple vulvar angiokeratomas within a background of lichen sclerosus.
CASE
A 13-year-old girl presented with vulvar pruritus and wart-like vulvar lesions. Four lesions were resected because of discomfort and uncertainty of the diagnosis. Pathology revealed angiokeratomas with chronic inflammation suggestive of lichen sclerosus. Postoperatively, pruritus continued in the largest excised lesion, which was associated with lichen sclerosus, and symptoms were treated successfully with topical steroids.
SUMMARY AND CONCLUSION
Vulvar angiokeratomas are asymptomatic red papular lesions and are rare in the female adolescent population. In this case, the pathology revealed the rare co-occurrence of angiokeratomas and lichen sclerosus. Biopsies of vulvar vascular lesions in symptomatic adolescents are recommended. Vulvar angiokeratomas might manifest rare genetic disease in otherwise asymptomatic female patients and warrant further follow-up.
Topics: Administration, Topical; Adolescent; Angiokeratoma; Female; Humans; Skin Neoplasms; Steroids; Vulva; Vulvar Lichen Sclerosus
PubMed: 30974213
DOI: 10.1016/j.jpag.2019.04.004 -
Cureus Jun 2022Background Cutaneous vascular malformations and tumors comprise a vast group of conditions with variable clinical presentations. It is imperative to differentiate them...
Dermoscopic Analysis of Vascular Malformations and Tumors Based Upon Dominant Vascular Dermoscopic Features: A Retrospective Analysis From a Tertiary Care Center of East India.
Background Cutaneous vascular malformations and tumors comprise a vast group of conditions with variable clinical presentations. It is imperative to differentiate them from nonvascular lesions and from each other as their management and prognosis differ significantly. There is only sparse literature on dermoscopic features of various vascular malformations and tumors, especially from India. Aim We aimed to retrospectively study the dermoscopic findings of various vascular malformations and tumors based on their dominant vascular dermoscopic feature. Method All the vascular malformations and tumors for which clinical details and clinical and dermoscopic images were available were included in the analysis. The dominant vascular feature(s) was defined as a single or combination of two or more vascular features (in case a single vascular feature does not satisfy the criteria) that constitute more than 75% of the lesions' vascular features. These included red, purple, blue, black (or any combination) dots, globules, lacunae, structureless area, linear, linear irregular, hairpin, comma, and arborizing vessels. Results A total of 52 patients with 68 vascular lesions (22 vascular malformations and 46 vascular tumors) were analyzed. Port-wine stain showed linear irregular vessels with sharp border with or without intervening white structureless area; unilateral nevoid telangiectasia had red dots and globules; angiokeratoma displayed red, reddish-purple to brown lacunae; blue color was seen in venous and glomuvenous malformation and venous lake; a mixed pattern was noted in infantile hemangioma and verrucous hemangioma; a red to reddish-white structureless area was observed in pyogenic granuloma and cherry angioma, and a subungual ill-defined pink structureless area was spotted in subungual glomus tumor. Conclusion The dermoscopic features observed in various vascular lesions may overlap; however, the dominant dermoscopic feature along with its color may point to the diagnosis.
PubMed: 35898363
DOI: 10.7759/cureus.26292 -
International Journal of Surgery Case... Nov 2021Xeroderma pigmentosum is an autosomal recessive genetic disorder with impaired ability to repair DNA damage. Detection of the intraoral benign and malignant lesion in...
INTRODUCTION AND IMPORTANCE
Xeroderma pigmentosum is an autosomal recessive genetic disorder with impaired ability to repair DNA damage. Detection of the intraoral benign and malignant lesion in Xeroderma pigmentosum is uncommon, and the reported few cases were in the lip and tip of the tongue which are related to ultraviolet light exposure.
CASE PRESENTATION
We present a case of 20 years old male with erythematous to violet, painless and shiny papule at the right side of the tongue. The lesion was surgically excised while the histopathological examination of the lesion showed focally eroded and hyperplastic stratified squamous epithelial covering with underlying capillary sized blood vessel filled with RBCs and lined by endothelium with no atypia or malignancy.
CLINICAL DISCUSSION
Oral angiokeratoma is a rare disease in patient with Xeroderma pigmentosum that should be early detected and diagnosed to decrease the liability for malignant transformation.
CONCLUSION
Health case workers should be aware of the nature of the disease, protection of the patient from ultraviolet light as well as Frequent follow up of the patients for a better quality of life.
PubMed: 34666250
DOI: 10.1016/j.ijscr.2021.106513 -
The Journal of Dermatology Feb 2022Fabry disease (FD), which is a lysosomal storage disease resulting from a deficiency of α-galactosidase A, leads to the accumulation of globotriaosylceramide in various...
Fabry disease (FD), which is a lysosomal storage disease resulting from a deficiency of α-galactosidase A, leads to the accumulation of globotriaosylceramide in various tissues and multiorgan impairment. Early diagnosis is important to improve long-term prognosis. Early clinical manifestations of FD include neuropathic pain, vascular skin lesions, and sweating abnormalities. Hypohidorosis is one of the clinical findings in the early stage of FD. However, there have been no studies on prospective screening of FD in patients with definitive diagnosis of hypohidrosis. We examined α-galactosidase A activity in white blood cells in 17 (one female and 16 male) patients with generalized hypohidorosis. Among 17 patients, one male patient (approximately 5.8%) had significantly reduced α-galactosidase A activity. He presented with a history of hypohidrosis with heat intolerance and neuropathic tingling pain in a warm environment from 6 years ago. He had a few angiokeratoma on the trunk and extremities. Ultrastructural examination of skin biopsy from the angiokeratoma revealed lamellar inclusions in endothelial cells. Kidney biopsy revealed swollen podocytes and Gb3 deposition in the glomerulus, and urinalysis revealed mulberry bodies. He was finally diagnosed with FD and started on enzyme replacement therapy with agalsidase alpha in the early stage. In addition, his family screening led to find the patients of four additional FD. Screening for FD in patients with hypohidrosis may lead to efficient early detection of FD.
Topics: Endothelial Cells; Fabry Disease; Female; Humans; Hypohidrosis; Male; Prospective Studies; Skin Neoplasms; alpha-Galactosidase
PubMed: 34796992
DOI: 10.1111/1346-8138.16237 -
Cureus Mar 2024Sarcoidosis, a multifaceted systemic disorder characterized histologically by the presence of non-caseating granulomas, has a wide array of cutaneous manifestations. We...
Sarcoidosis, a multifaceted systemic disorder characterized histologically by the presence of non-caseating granulomas, has a wide array of cutaneous manifestations. We describe a case of a 74-year-old woman with a complex medical history, who presented with asymptomatic hyperpigmented papules on her lower extremities. Histological examination of a punch biopsy specimen showed nodular and angiocentric patterns of granulomatous inflammation consistent with sarcoidosis, and chest radiography demonstrated bilateral hilar opacities, supporting the diagnosis. To our knowledge, this specific cutaneous presentation of sarcoidosis has not been described before, and it can easily be mistaken for other conditions. Therefore, this case underscores the importance of recognizing atypical cutaneous morphologies of sarcoidosis, particularly in patients with complex medical histories, to facilitate accurate diagnosis and timely intervention. We aim to increase awareness among clinicians regarding the diverse manifestations of sarcoidosis, thereby enhancing diagnostic acumen and patient care.
PubMed: 38628994
DOI: 10.7759/cureus.56322