-
Acta Dermato-venereologica Jan 2024
Topics: Humans; Telangiectasis; Skin Abnormalities
PubMed: 38270259
DOI: 10.2340/actadv.v104.18429 -
Genes Jan 2024-activating somatic mutations give rise to Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status...
-activating somatic mutations give rise to Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status of the mutations generate some difficulties for a proper diagnosis. We studied the clinical and molecular statuses of 40 patients referred with a clinical suspicion of FD/MAS to provide some clues. was sequenced using both Sanger and Next-Generation Sequencing (NGS). We were able to identify the pathogenic variants in 25% of the patients. Most of them were identified in the affected tissue, but not in blood. Additionally, NGS demonstrated the ability to detect more patients with mosaicism (8/34) than Sanger sequencing (4/39). Even if in some cases, the clinical information was not complete, we confirmed that, as in previous works, when the patients were young children with a single manifestation, such as hyperpigmented skin macules or precocious puberty, the molecular diagnosis was usually negative. In conclusion, as FD/MAS is caused by mosaic variants, it is essential to use sensitive techniques that allow for the detection of low percentages and to choose the right tissue to study. When not possible, and due to the low positive genetic rate, patients with FD/MAS should only be genetically tested when the clinical diagnosis is really uncertain.
Topics: Child; Humans; Child, Preschool; Mosaicism; Fibrous Dysplasia, Polyostotic; Mutation; High-Throughput Nucleotide Sequencing; Skin
PubMed: 38255009
DOI: 10.3390/genes15010120 -
Journal of Clinical and Investigative... Jul 2023Seborrheic dermatitis (SD) is an inflammatory disease that has a papulosquamous morphology in areas rich in sebaceous glands such as the scalp, face, and body folds....
BACKGROUND
Seborrheic dermatitis (SD) is an inflammatory disease that has a papulosquamous morphology in areas rich in sebaceous glands such as the scalp, face, and body folds. Petaloid SD is an uncommon presentation found in patients with dark skin (Fitzpatrick Skin type V-VI). This form of SD can appear as pink or hypopigmented polycyclic coalescing rings or scaly macules and patches in the typical areas SD appears, which can mimic other conditions including lupus erythematosus. There is significant disproportion in the representation of darker skin types in dermatological textbooks and scarce literature on petaloid SD. This case demonstrates the presentation of the petaloid SD in an African American patient to contribute to the limited literature on dermatological conditions within this population.
CASE REPORT
A 25-year-old African American female with a history of mild hidradenitis suppurativa and asthma who presented with asymptomatic hypopigmented rashes throughout her face, scalp, and chest. She was diagnosed with the petaloid form SD and treated with ketoconazole shampoo once weekly, ketoconazole cream 1-2x daily, and hydrocortisone 2.5% ointment twice daily as needed. At six-week post-treatment follow-up, the patient's rashes significantly improved.
CONCLUSIONS
The petaloid form of SD is commonly experienced in dark-skinned patients. While common treatments for SD are effective in this form of SD, special consideration of skin types, skincare habits, and haircare in the African American population should be explored. This case report demonstrates how this uncommon skin condition presents in patients of Fitzpatrick skin type V-VI and a successful treatment course.
PubMed: 38249156
DOI: 10.13188/2373-1044.1000086 -
Dermatology Practical & Conceptual Dec 2023Vitiligo is a chronic depigmenting disorder characterized by characteristic, non-scaly, chalky-white skin macules and patches, due to the loss of skin pigment. Its exact... (Review)
Review
Vitiligo is a chronic depigmenting disorder characterized by characteristic, non-scaly, chalky-white skin macules and patches, due to the loss of skin pigment. Its exact pathogenesis is still not fully understood but it seems to be an autoimmune disease where the combination of genetic, environmental, and immune factors contributes to the destruction of melanocytes in the epidermis. Vitiligo is classified into different types based on its clinical characteristics and distribution patterns. The two main forms of vitiligo are non-segmental vitiligo (NSV) and segmental vitiligo (SV). NSV is the predominant form, characterized by symmetrical skin patches, that tend to evolve over time. In contrast, SV has unilateral or band-shaped lesions that progress rapidly but often stabilize early. Herein, current unmet needs in terms of psychosocial consequences and relative lack of valid therapeutic approaches are critically analyzed and put in perspective in the Italian prescribing scenario. Finally, available management guidelines are illustrated and briefly compared, to provide context for upcoming treatment options.
PubMed: 38241398
DOI: 10.5826/dpc.1304S2a316S -
Dermatology Practical & Conceptual Dec 2023Vitiligo is the most common cause of depigmentation and its estimated worldwide prevalence ranges from 0.5% to 2%. The disease is characterized by the development of... (Review)
Review
Vitiligo is the most common cause of depigmentation and its estimated worldwide prevalence ranges from 0.5% to 2%. The disease is characterized by the development of white macules resulting from a loss of epidermal melanocytes. The term vitiligo (nonsegmental) is now a consensus umbrella term for all forms of generalized vitiligo. Two other subsets of vitiligo are segmental vitiligo and unclassified/undetermined vitiligo, which corresponds to focal disease and rare variants. A series of hypopigmented disorders may masquerade as vitiligo, and some of them need to be ruled out by specific procedures including a skin biopsy. The skin plays an important role in our interaction with the world and any change in the skin colour can have important psychological consequences. In this line, vitiligo has a major impact on quality of life.In this review, we will detail the most recent data on the clinical features of vitiligo and its impact on quality of life.
PubMed: 38241394
DOI: 10.5826/dpc.1304S2a312S -
The Pan African Medical Journal 2023Secondary syphilis is known as "The Great Imitator". It can mimic numerous diseases clinically and histologically, including erythema multiforme (EM). Coinfection with...
Secondary syphilis is known as "The Great Imitator". It can mimic numerous diseases clinically and histologically, including erythema multiforme (EM). Coinfection with HIV often makes its manifestations more atypical leading to delays in diagnosis and therapy. A 34-year-old male-sex-male patient who had received coronavirus disease 2019 (COVID-19) vaccine 1 week earlier presented with complaints of slightly pruritic scaly erythematous targetoid plaques and erythematous macules on the trunk and extremities for 6 weeks. Histopathology examination showed basal cell vacuolar degeneration of the epidermis and lymphocytic infiltrates along the dermal-epidermal junction and superficial dermis, consistent with EM. Upon further investigation, syphilis and HIV serology were reactive (VDRL 1: 128, TPHA 1: 40960, CD4+ 461 cells/µl). Lesions improved significantly after a single dose of 2,4-million units of benzathine penicillin intramuscular injection. Secondary syphilis presenting as erythema multiforme (EM)-like eruptions is very rare. Physicians should be aware of this unusual presentation to prevent complications.
Topics: Humans; Male; Adult; Syphilis; Penicillin G Benzathine; Erythema Multiforme; Erythema; HIV Infections
PubMed: 38223877
DOI: 10.11604/pamj.2023.46.55.41497 -
Skin Research and Technology : Official... Jan 2024
Topics: Humans; Melanosis; Lasers; Lip Diseases; Treatment Outcome; Lasers, Solid-State
PubMed: 38221793
DOI: 10.1111/srt.13581 -
Case Reports in Dermatology 2024Heterotopic salivary gland tissue (HSGT) is diagnosed when salivary gland tissue is found in areas other than the major or minor salivary glands. No dermoscopic findings...
INTRODUCTION
Heterotopic salivary gland tissue (HSGT) is diagnosed when salivary gland tissue is found in areas other than the major or minor salivary glands. No dermoscopic findings of HSGT have been reported.
CASE PRESENTATION
This case report gives the dermoscopic findings of a 45-year-old woman with HSGT who presented with a longstanding pale red macule on her neck, characterized by repeated clear fluid discharge. Dermoscopic examination showed a red dot with a pale pink halo and telangiectasia throughout the lesion. An excisional biopsy confirmed the diagnosis of HSGT, revealing the presence of mucous and serous salivary glandular structures within subcutaneous fat tissue. It has been reported that HSGT is associated with periductal lymphocytic infiltration, which was also observed in this case.
CONCLUSION
We think that the "red dot with a pale pink halo" is a unique dermoscopic finding of HSGT, which is rarely observed in branchial anomalies.
PubMed: 38196704
DOI: 10.1159/000535740 -
International Journal of Women's Health 2024Vulvar intraepithelial neoplasia (VIN), the precursor lesion of vulvar squamous cell carcinoma (VSCC), may present as pruritic or asymptomatic lichenified plaques...
The Importance of p16 and p53 Immunohistochemical Staining in Diagnosing Vulvar Lichen Simplex Chronicus Mimicking Vulvar Intraepithelial Neoplasia with False-Positive Human Papillomavirus Type 66.
Vulvar intraepithelial neoplasia (VIN), the precursor lesion of vulvar squamous cell carcinoma (VSCC), may present as pruritic or asymptomatic lichenified plaques surrounded by single or multiple discrete or confluent macules or papules. VIN is divided into high-grade squamous intraepithelial lesion (HSIL), which is human papillomavirus (HPV)-driven, and differentiated VIN (DVIN), which develops independently of HPV. Histopathological examination and HPV genotyping polymerase chain reaction (PCR) tests should be performed to distinguish between HSIL and DVIN. Lichenified plaques surrounded by multiple papules are found not only in VIN but also in vulvar lichen simplex chronicus (LSC). This chronic inflammatory skin disease mostly appears in labia majora and is triggered by sweating, rubbing, and mental stress. IHC staining of p16 and p53 are recommended as the most commonly used biomarkers for VIN in diagnostically challenging cases. IHC staining is also beneficial to confirm the accuracy of the HPV detection technique, as p16-negative staining may also represent a false-positive result. We report a case of the importance of p16 and p53 IHC staining in diagnosing vulvar LSC mimicking VIN with false-positive HPV-66. The patient was previously diagnosed with VIN based on clinical examination. HPV-66 was detected by PCR from a vulvar biopsy sample. Histopathological examination revealed stromal lymphocytic infiltration with non-specific chronic dermatitis; neither atypia nor koilocyte was observed. Both p16 and p53 IHC staining were negative. The patient was diagnosed and treated as vulvar LSC with 10 mg cetirizine tablet, emollient, and 0.1% mometasone furoate cream. Clinical improvement was observed as the lesions became asymptomatic hyperpigmented macules in the 4 weeks of follow-up, without recurrence after 3 years of follow-up. Both p16 and p53 IHC staining might help distinguish HSIL and DVIN mutually and from other vulvar mimics in diagnostically challenging cases.
PubMed: 38196407
DOI: 10.2147/IJWH.S439825