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1.
Emerg Infect Dis ; 29(8): 1698-1700, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37486691

RESUMO

Florida, USA, has witnessed an increased incidence of leprosy cases lacking traditional risk factors. Those trends, in addition to decreasing diagnoses in foreign-born persons, contribute to rising evidence that leprosy has become endemic in the southeastern United States. Travel to Florida should be considered when conducting leprosy contact tracing in any state.


Assuntos
Hanseníase , Mycobacterium leprae , Humanos , Animais , Mycobacterium leprae/genética , Florida/epidemiologia , Tatus , Hanseníase/diagnóstico , Hanseníase/epidemiologia , Sudeste dos Estados Unidos
2.
Exp Dermatol ; 31(9): 1302-1310, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35801378

RESUMO

Darier (Darier-White) disease (DD) is an autosomal dominant skin disorder caused by pathogenic mutations in the ATP2A2 gene which encodes a calcium ATPase in the sarco-endoplasmic reticulum (SERCA2). Defects in the SERCA2 protein lead to an impairment of cellular calcium homeostasis, which in turn, triggers cell death pathways. There is a high prevalence of neuropsychiatric disorders in patients affected by this condition, namely intellectual disability, bipolar disorder, schizophrenia, and suicidality. Though these associations have been well-documented over the years, little has been discussed or investigated regarding the pathophysiological mechanisms. The goal of this article is to review the literature related to the most commonly associated neuropsychiatric disorders found in patients with DD, highlight the pathophysiological mechanisms underlying each condition, and examine potential interventions that may be of interest for future development. A literature search was performed using PubMed to access and review relevant articles published in the last 40 years. Keywords searched included Darier disease neuropsychiatric, Darier disease pathophysiology, SERCA2 central nervous system, SERCA 2 skin, ATP2A2 central nervous system, ATP2A2 skin, sphingosine-1-phosphate signalling skin, sphingosine-1-phosphate signalling central nervous system, P2X7 receptor skin, and P2X7 receptor central nervous system. Our search resulted in 2692 articles, of which 61 articles were ultimately included in this review.


Assuntos
Doença de Darier , Cálcio/metabolismo , Doença de Darier/metabolismo , Humanos , Mutação , Receptores Purinérgicos P2X7/metabolismo , Pele/metabolismo
3.
Curr Opin Pediatr ; 34(4): 381-389, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35836396

RESUMO

PURPOSE OF REVIEW: Co-presentation of ocular and cutaneous conditions is common and prompt recognition of known associations may be imperative to sight-saving intervention. There are currently limited reviews in the pediatric literature addressing comorbid ocular and dermatologic presentations. Recent diagnostic and therapeutic advances have drastically altered the prognostic landscape for several disease states when recognition and referral are timely. The aim of this report is to examine important oculocutaneous disease associations with emphasis on management of ocular complications and appropriate referral practices to ophthalmology specialists. RECENT FINDINGS: Oculocutaneous associations can be broadly classified into four etiologic categories: infectious, inflammatory, genetic, and medication/nutrition induced pathology. Several conditions in all four categories have had recent advances in their etiologic understanding, diagnostic evaluation, and therapeutic approach. Thematically, these advances highlight increasing disease prevalence of certain conditions, previously unrecognized pediatric relevance of others, updated diagnostic criteria, and newer categories of iatrogenic illness induced by advances in medical therapy. SUMMARY: This review is designed to provide the pediatric practitioner a vignette-based high-level overview of both common and sight threatening associations that should prompt consideration for ophthalmology consultation. Conditions were selected based on relevance, relative urgency, and recent advances in their etiologic/therapeutic understanding.


Assuntos
Oftalmologia , Dermatopatias , Criança , Comorbidade , Humanos , Prevalência , Encaminhamento e Consulta , Dermatopatias/diagnóstico , Dermatopatias/etiologia , Dermatopatias/terapia
8.
Pediatr Rev ; 42(Suppl 2): 141-145, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34470895
10.
Cureus ; 16(2): e53510, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38440005

RESUMO

Grover's disease, also known as transient acantholytic dermatosis (TAD), currently has no published randomized control trials regarding the treatment of the disease; thus, evidence for treatment is largely derived from case studies and case reports. In this case series, we summarize the current treatment options for Grover's disease and discuss two cases of refractory Grover's disease treated with low-dose oral isotretinoin in patients who previously failed to reach clearance with multiple treatment options. Our aim is to highlight the efficacy of low-dose systemic retinoid therapy in Grover's disease when other treatment options prove unsatisfactory.

11.
Int J Trichology ; 15(4): 154-156, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38765727

RESUMO

Graham-Little-Piccardi-Lasseur syndrome (GLPLS) is characterized by diffuse alopecia and a lichenoid follicular eruption affecting the scalp, eyebrows, and intertriginous regions. It is considered a variant of lichen planopilaris. The condition often begins as hyperkeratotic papules on the trunk and extremities followed by the development of alopecia. Several subtypes of lichen planus have been associated with a photodistriubuted eruption including lichenoid drug reactions, actinic lichen planus, and lichen planus pigmentosus; however, there are no reported cases associated with GLPLS. We herein report the first case of GLPLS displaying a photodistributed lichenoid eruption to expand upon the differential diagnosis of photoaggravated conditions. We also use this case to review the pathophysiology and therapeutic modalities to manage GLPLS.

12.
AME Case Rep ; 6: 34, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36339907

RESUMO

Background: Solitary fibrous tumors (SFTs) are relatively rare spindle cell neoplasms uncommonly seen in dermatology practice. Initially discovered as a pleural tumor, SFTs have also been found in extra-pleural sites including the skin and soft tissues. When arising within the dermis or subcutis they are termed superficial SFTs, where they often present as solitary, unilateral, slow growing superficial masses. Histologically, they are composed of spindle cells arranged in a "patternless" pattern with hemangiopericytoma-like vessels dispersed throughout. Historically, CD34, CD99 and Bcl-2 immunohistochemical (IHC) stains were used to differentiate SFTs from other spindle cell neoplasms, however these markers are not entirely specific. Recent discovery of a disease defining NGFI-A binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene has led to the use of STAT6 IHC staining to help verify the diagnosis of SFTs, particularly in unexpected sites. Case Description: We report a case of a 23-year-old woman with a slowly growing lateral supra-orbital mass, clinically concerning for a dermoid cyst, which was subsequently discovered to be a SFT on pathologic examination, with the diagnosis being verified by STAT6 immunostaining. Conclusions: SFTs are rarely encountered in dermatologic practice, however, must be kept on the differential of subcutaneous nodules, including those occurring in young adults. Due to the rarity of these tumors in clinical practice, a proposed algorithm for the approach to management of SFTs is included, guided by a validated, histology-driven, metastatic risk assessment tool, to help guide other clinicians confronted by these tumors.

19.
JAMA Dermatol ; 159(8): 890-891, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37314762

RESUMO

This case report describes a patient with refractory lupus pernio that responded to treatment with a series of intralesional certolizumab injections.


Assuntos
Pérnio , Lúpus Eritematoso Discoide , Sarcoidose , Humanos
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