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Anales de Pediatria May 2024
Topics: Humans; Angiokeratoma; Skin Neoplasms; Male; Infant, Newborn; Female
PubMed: 38580593
DOI: 10.1016/j.anpede.2024.03.048 -
Biomedicines Oct 2023(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task... (Review)
Review
(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.
PubMed: 37893091
DOI: 10.3390/biomedicines11102717 -
Indian Journal of Dermatology,... Mar 2024
PubMed: 38595012
DOI: 10.25259/IJDVL_1225_2023 -
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 -
Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic Brain Disease Aug 2023The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder...
BACKGROUND
The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype description of a cluster of five Southern Italy families.
METHODS
Family pedigrees of five index males with the p.Phe113Leu variant were obtained and all at-risk relatives underwent biochemical and genetical screening test. Carriers of GLA p.Phe113Leu variant underwent subsequent multidisciplinary clinical and instrumental evaluation.
RESULTS
Thirty-one (16 M, 15 F) individuals with p.Phe113Leu pathogenic variant were identified. Sixteen out of 31 patients (51.6%) had cardiac manifestations. Notably, myocardial fibrosis was found in 7/8 patients, of whom 2 were under 40 years. Stroke occurred in 4 patients. White matter lesions were detected in 12/19 patients and occurred in 2/10 of subjects under 40 years. Seven females complained of acroparesthesias. Renal involvement occurred in 10 patients. Angiokeratomas were evident in 9 subjects. Eyes, ear, gastrointestinal and pulmonary involvement occurred in the minority of subjects.
CONCLUSION
This study demonstrates that a cluster of subjects with p.Phe113Leu pathogenic variant is also present in Southern Italy. Disease manifestations are frequent in both sexes and may occur early in life. Cardiac involvement represents the core manifestation, but neurological and renal involvement is also frequent, suggesting that extra-cardiac complications deserve clinical attention.
Topics: Female; Humans; Male; alpha-Galactosidase; Fabry Disease; Heterozygote; Phenotype; Stroke
PubMed: 37097439
DOI: 10.1007/s11011-023-01216-4 -
Photodiagnosis and Photodynamic Therapy Feb 2024Angiokeratoma corporis diffusum (ACD) is one type of angiokeratomas which are characterized on histology by superficial dilated capillaries with epidermal proliferation....
SIGNIFICANCE
Angiokeratoma corporis diffusum (ACD) is one type of angiokeratomas which are characterized on histology by superficial dilated capillaries with epidermal proliferation. ACD seriously influences patients' appearance and quality of life. Many therapies have been used to solved this problem. However, all the treatments have not been proved very effective. Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) was considered recently as a promising treatment for PWS according to the principle of targeted photodynamic destruction of the vascular wall of the lesion.
APPROACH
APPROACH: A 27-year-old male patient diagnosed with angiokeratoma corporis diffusum (ACD) by skin tissue biopsy has undergone pulsed dye laser for times, but the result was unsatisfying. After evaluating and obtaining the patient's agreement, we utilized Hemoporfin-PDT with 530 nm LED green light to treat ACD. When followed up in the 1 year after 2 treatments, the patient was pleased with the efficacy that most red papules on his face disappeared.
RESULTS
The patient achieved great improvement after two treatments.
CONCLUSIONS
Hemoporfin-PDT could be used to treat ACD.
Topics: Male; Humans; Adult; Fabry Disease; Photochemotherapy; Quality of Life; Photosensitizing Agents; Hematoporphyrins
PubMed: 37806605
DOI: 10.1016/j.pdpdt.2023.103828 -
Clinical, Cosmetic and Investigational... 2024Fordyce angiokeratoma, a benign tiny lesion usually on the scrotum, increases with age and may cause symptoms like itching and bleeding in nearly half of the cases....
BACKGROUND
Fordyce angiokeratoma, a benign tiny lesion usually on the scrotum, increases with age and may cause symptoms like itching and bleeding in nearly half of the cases. Although treatment is not always necessary, it is primarily considered for cosmetic reasons in the case of larger or atypical lesions.
CASE REPORT
We present the case of a healthy adult male with multiple large red-blue hyperkeratotic nodules and papules on his scrotal skin, causing bleeding upon minor trauma and personal embarrassment. After confirming the diagnosis of angiokeratomas of the scrotum through histopathology, the patient underwent two sessions of Long-Pulse Alexandrite Laser treatment, resulting in a 90% reduction in lesions, no scrotal bleeding, and a satisfactory cosmetic outcome.
CONCLUSION
The Long-Pulse Alexandrite Laser is a precise and effective treatment for vascular lesions, like angiokeratomas, offering customizable parameters. However, patient-specific factors and careful evaluation are essential, recognizing the laser's limitations for optimal results.
PubMed: 38562554
DOI: 10.2147/CCID.S458914