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1.
Histopathology ; 79(4): 619-628, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33882161

RESUMO

AIMS: Fibrous cephalic plaques (FCPs) in individuals with tuberous sclerosis complex (TSC) may be excised for cosmetic reasons or biopsied to confirm lesion identification and TSC diagnosis. The aim of this study was to determine the range of histopathological features of FCPs. METHODS AND RESULTS: A retrospective analysis was conducted on 119 adults with TSC. Twenty-one lesions from 16 individuals were evaluated by a dermatopathologist. Additionally, we assessed whether lesion colour or histology varied by anatomical location. Seventy-six lesions were observed in 36 of 119 individuals. Erythematous lesions were more commonly found on the forehead, face or neck than on the scalp (odds ratio = 12.6, P = 0.0001). Thickened and disorganised collagen fibre bundles were present in 95% (20/21) of lesions. Perifollicular fibrosis was observed in 95% (20/21) of lesions, enhanced vascularity was observed in 52% (11/21) of lesions, and features of fibrofolliculoma were observed in 43% (9/21) of lesions. Other abnormalities included features similar to trichofolliculoma, follicular-derived, infundibular-type cysts, and abnormally arranged primitive hair follicles. CONCLUSIONS: FCPs in TSC show thickened bundles of collagen, and hamartomatous changes involving hair follicles. Recognition of these histopathological features may raise the possibility of unsuspected TSC or confirm FCP identification.


Assuntos
Dermatopatias/patologia , Esclerose Tuberosa/patologia , Adulto , Feminino , Fibrose/etiologia , Fibrose/patologia , Cabeça , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Dermatopatias/etiologia , Esclerose Tuberosa/complicações
2.
Genet Med ; 21(11): 2594-2604, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31114024

RESUMO

PURPOSE: To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into subtypes that correspond with prognosis and extent of disease. METHODS: Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. Extent of disease, onset age, and family history of TSC were determined through retrospective analysis of patient records. RESULTS: The median number of disease findings and age at penetrance differed between mosaic patients with asymmetrically distributed facial angiofibromas (4 findings, 24 years, n = 7), mosaic patients with bilaterally symmetric facial angiofibromas (8 findings, 10 years, n = 12), and germline TSC patients (10 findings, 4 years, n = 29). Cutaneous and internal organ involvement positively correlated in mosaic (R = 0.62, p = 0.005), but not germline (R = -0.24, p = 0.24) TSC. Variant allele fraction (VAF) in the blood (range: 0-19%) positively correlated with the number of major features (R = 0.55, p = 0.028). Five had a TSC2 variant identified in the skin that was below detection in the blood. One of 12 children from a mosaic parent had TSC. CONCLUSION: The phenotype of mosaic TSC ranged from mild to indistinguishable from germline disease. Patients with mosaicism and asymmetric facial angiofibromas exhibited fewer findings, later onset, and lower VAF in the blood.


Assuntos
Esclerose Tuberosa/classificação , Esclerose Tuberosa/genética , Adulto , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Mosaicismo , Mutação/genética , Fenótipo , Estudos Retrospectivos , Neoplasias Cutâneas/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética
3.
J Am Acad Dermatol ; 78(4): 717-724, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29258863

RESUMO

BACKGROUND: Fibrous cephalic plaques (FCPs) stereotypically develop on the forehead of patients with tuberous sclerosis complex (TSC). They constitute a major feature for TSC diagnosis and may present before other TSC-related cutaneous hamartomas. OBJECTIVE: To describe the clinical characteristics of FCPs in TSC. METHODS: A total of 113 patients with TSC were enrolled in an observational cohort study. Retrospective analysis of medical records and skin photography was performed. FCPs were categorized by anatomic location and size. RESULTS: FCPs were observed in 36% of patients (41 of 113). Of 62 total lesions, 58% were 1 to less than 5 cm, 13% were 5 cm or larger, and 29% were of unknown size mostly because of prior excision. The distribution of lesions was 39% on the forehead, 27% on the face (nonforehead), 3% on the neck, and 31% on the scalp. Fourteen patients had similar lesions less than 1 cm in diameter. Histopathologically, FCPs displayed dermal collagenosis, decreased elastic fibers, and features of angiofibromas or fibrofolliculomas. LIMITATIONS: Men were under-represented because the cohort was enriched for patients with TSC with lymphangioleiomyomatosis, which occurs in adult women. CONCLUSION: Two-fifths of FCPs presented on the forehead, with most of the remainder in other locations on the face and scalp. Better recognition of these lesions may lead to earlier diagnosis of TSC.


Assuntos
Dermatoses Faciais/etiologia , Dermatoses do Couro Cabeludo/etiologia , Neoplasias Cutâneas/complicações , Esclerose Tuberosa/complicações , Adolescente , Criança , Pré-Escolar , Dermatoses Faciais/patologia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Dermatoses do Couro Cabeludo/patologia
4.
J Cosmet Dermatol ; 22(4): 1168-1176, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36566490

RESUMO

BACKGROUND: Various topical agents have been used to treat melasma; however, a large-scale evaluation among the currently available treatment is lacking. OBJECTIVES: The aim of this study was to evaluate the efficacy and safety of topical agents for melasma. METHODS: The MEDLINE, Embase, Web of Science, Cochrane, and Alt-Healthwatch databases were searched in November 2021. Original studies that reported pre- and post-treatment Melasma Area Severity Index (MASI)/modified Melasma Area Severity Index (mMASI) scores and/or adverse effects (AEs) were eligible for inclusion. The main outcome was the efficacy analyzed by the changes in the pre- and post-treatment with standardized mean difference (SMD) of MASI/mMASI scores; the AEs were calculated with incidence proportion by the reported percentage of skin irritations. RESULTS: A total of 45 studies (2359 patients) and 55 studies (4539 patients) met the inclusion criteria for efficacy and AEs, respectively. Hydroquinone (HQ) monotherapy (SMD -1.3, 95% CI [-1.6 to -1.0]), HQ-containing combination therapy (-1.4, [-1.7 to -1.1]), cysteamine (-1.6, [-2.0 to -1.2]), tranexamic acid (-1.5, [-2.0 to -1.1]), azelaic acid (-1.3, [-1.7 to -1.0]), and kojic acid (-0.9, [-1.3 to -0.5]) demonstrated comparable efficacy, while zinc sulfate did not exhibit statistically significant improvement (-1.2, [-2.7 to 0.4]). HQ-containing combination therapy (50.9%) and cysteamine (42.2%) demonstrated the highest incidence of irritation, while azelaic acid (18.7%), kojic acid (5.3%), and tranexamic acid (0.8%) revealed a lower risk. CONCLUSIONS: In this meta-analysis, non-HQ agents except zinc sulfate may be considered as an alternative to HQ-containing agents. However, treatment should be guided by patient's tolerance, availability, and physicians' experience.


Assuntos
Melanose , Ácido Tranexâmico , Humanos , Resultado do Tratamento , Ácido Tranexâmico/efeitos adversos , Cisteamina , Sulfato de Zinco , Melanose/tratamento farmacológico
5.
Cutis ; 109(2): 98-100, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35659800

RESUMO

Highly textured hair has been found to be more susceptible to breakage than other hair types due to an increased proportion of spirals and relatively fewer elastic fibers anchoring the hair follicles to the dermis. Women of African descent frequently employ hairstyles and hair treatments for ease of management and as a form of self-expression, but a number of these practices have been implicated as risk factors for alopecia. Herein, we provide an overview of hairstyles for patients with highly textured hair so that physicians may better identify high-risk hairstyles, provide individualized recommendations for safer alternatives, and manage and stop the progression of hair loss before it becomes permanent.


Assuntos
Alopecia , População Negra , Folículo Piloso , Preparações para Cabelo , Alopecia/etnologia , Alopecia/prevenção & controle , Feminino , Folículo Piloso/lesões , Preparações para Cabelo/efeitos adversos , Humanos
6.
Int J Womens Dermatol ; 7(2): 158-164, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33937483

RESUMO

Skin lightening (SL) for cosmetic reasons is associated with profound negative impacts on well-being and adverse effects on the skin, resulting in immense challenges for dermatologists. Despite current regulations, lightening agents continue to dominate the cosmetic industry. In this review, our international team of dermatologists tackles the topic of SL as a global public health issue, one of great concern for both women's health and racial implications. We have examined SL in Africa, Asia, the Middle East, and the Americas. We aim to inspire a global discourse on how modern dermatologists can utilize scientific evidence and cultural competency to serve and protect patients of diverse skin types and backgrounds. In doing so, we hope to promote healthy skin and inclusive concepts of beauty in our patients and society.

7.
JAMA Dermatol ; 153(7): 660-665, 2017 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-28445558

RESUMO

Importance: Patients with tuberous sclerosis complex (TSC) frequently develop collagenous connective tissue nevi. The prototypical lesion is a large shagreen patch located on the lower back, but some patients only manifest small collagenomas or have lesions elsewhere on the body. The ability to recognize these variable presentations can be important for the diagnosis of TSC. Objective: To describe the clinical characteristics of connective tissue nevi on the trunk and extremities of patients with tuberous sclerosis complex. Design, Setting, and Participants: A retrospective analysis of patient medical records and skin photography was performed; 104 adult patients with TSC were enrolled in an observational cohort study that was enriched for those with pulmonary lymphangioleiomyomatosis, and was therefore composed mostly of women (99 women, 5 men). All patients included were examined at the National Institutes of Health (NIH) in Bethesda, Maryland, from 1998 to 2013. Connective tissue nevi were categorized per anatomic location and size. Lesions less than 1 cm in diameter were termed collagenomas. Shagreen patches were characterized as small (1 to <4 cm), medium (4 to <8 cm), and large (≥8 cm). Main Outcome and Measures: Frequency, anatomic location, size, and histological appearance of connective tissue nevi in patients with TSC. Results: Overall, 58 of 104 patients (median [range] age, 42 [19-70] years) with TSC (56%) had at least 1 connective tissue nevus on the trunk or thighs; of these, 28 of 58 patients (48%) had a solitary lesion, and 30 of 58 patients (52%) had 2 or more lesions. Overall, 120 lesions from 55 patients were classified by size; 46 lesions (38%) were collagenomas; 39 lesions (32%) were small shagreen patches; 21 lesions (18%), medium shagreen patches; and 14 lesions (12%), large shagreen patches. The distribution of lesions was 9% (n = 11), upper back; 29% (n = 35), middle back; 51% (n = 61), lower back; and 11% (n = 13), other locations. All 26 shagreen patches that were analyzed histopathologically had coarse collagen fibers and 24 of 26 stained with Miller elastic stain had decreased elastic fibers. On immunoblot analysis, fibroblasts grown from shagreen patches expressed higher levels of phosphorylated ribosomal protein S6 than paired fibroblasts from normal-appearing skin. Conclusions and Relevance: Tuberous sclerosis complex-related connective tissue nevi are not limited to the lower back, and occasionally present on the central or upper back, buttocks, or thighs. Elastic fibers are typically decreased. Recognition of these variable presentations can be important for TSC diagnosis.


Assuntos
Nevo/patologia , Proteína S6 Ribossômica/metabolismo , Esclerose Tuberosa/patologia , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nevo/diagnóstico , Nevo/etiologia , Fosforilação , Estudos Retrospectivos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Adulto Jovem
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