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1.
Cureus ; 16(2): e54678, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38524061

RESUMO

This is a case of a previously healthy 29-year-old female with erythema and skin excoriations of the left breast nipple-areolar complex (NAC). After a repeat trial and failure of topical hydrocortisone, a diagnostic mammogram and nipple biopsy revealed Paget's disease (PD) of the nipple with ductal carcinoma in situ (DCIS). A subsequent genetic analysis found a breast cancer 2 (BRCA2) gene mutation. Treatment consisted of a left breast skin-sparing simple mastectomy with sentinel lymph node (SLN) biopsy and immediate tissue expander placement for implant reconstruction. Further management involved right breast short-interval surveillance with annual mammography and magnetic resonance imaging (MRI) with the possibility of prophylactic surgery along with oophorectomy after childbearing.

2.
Curr Opin Pediatr ; 35(4): 467-474, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37345742

RESUMO

PURPOSE OF REVIEW: This review focuses on the presentation and management of ichthyoses and highlights recent advances in treatment that hold promise for better targeted therapy. RECENT FINDINGS: The ichthyoses are a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratosis and scaling with variable erythema. The highly visible scaling and frequent itch contribute to decreased quality of life. Management for ichthyosis focuses on symptomatic relief and scale reduction with emollients, keratolytics, and retinoids. Recent advances in immune profiling and genotype-phenotype mapping have increased understanding of ichthyosis and shifted focus to pathogenesis-based targeted therapies with emerging biologics, small molecular inhibitors, and gene therapy. SUMMARY: This article discusses clinical assessment and genotyping to make the diagnosis of specific forms of ichthyosis, provides guidance for management, and reviews new treatment options with systemic agents.


Assuntos
Ictiose , Qualidade de Vida , Humanos , Ictiose/diagnóstico , Ictiose/genética , Ictiose/terapia , Retinoides/uso terapêutico , Diagnóstico Diferencial , Terapia Genética
3.
J Allergy Clin Immunol Pract ; 11(5): 1361-1373, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36948491

RESUMO

The U.S. Food and Drug Administration approval of dupilumab for moderate-to-severe atopic dermatitis shifted the paradigm from use of broad, systemic immunosuppressants to a safer, targeted treatment and led to the emergence of newer interleukin (IL)-4/IL-13 directed biologics and small molecule therapies, namely Janus kinase (JAK) inhibitors (JAKi). Tralokinumab and emerging (not yet approved) lebrikizumab, which both target IL-13, are alternative biologics to dupilumab. The emerging anti-IL-31 receptor nemolizumab is likely to be used second-line to other biologics, primarily for pruritus. Three JAKi are currently in use for treating atopic dermatitis, 2 of which, abrocitinib and upadacitinib, are U.S. Food and Drug Administration-approved. This review provides an in-depth, practical discussion on use of these biologics and JAKi that are approved or have completed phase 3 clinical trials in pediatric patients and adults, comparing the groups of medications based on available efficacy and safety data.


Assuntos
Produtos Biológicos , Dermatite Atópica , Adulto , Humanos , Criança , Dermatite Atópica/tratamento farmacológico , Interleucina-13 , Imunossupressores/uso terapêutico , Prurido/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Resultado do Tratamento
4.
Pediatr Dermatol ; 40(4): 735-737, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36709954

RESUMO

Olmsted syndrome (OS) is a rare genetic disorder, characterized by painful palmoplantar keratoderma (PPK), periorificial and intertriginous hyperkeratoses, and alopecia. Fewer than 75 cases have been described. Variants in TRPV3 result in constitutive activation of transient receptor potential vanilloid 3, leading to increased epidermal growth factor receptor (EGFR) signaling, palmoplantar epidermal hyperproliferation, and exquisite lesional pain. We describe pre-school aged twins with OS with partial improvement from oral erlotinib, an EGFR inhibitor, but dramatic reduction of their persistent palmoplantar thickening and pain from adding acitretin.


Assuntos
Acitretina , Ceratodermia Palmar e Plantar , Humanos , Pré-Escolar , Cloridrato de Erlotinib/uso terapêutico , Acitretina/uso terapêutico , Ceratodermia Palmar e Plantar/tratamento farmacológico , Ceratodermia Palmar e Plantar/genética , Receptores ErbB , Dor
6.
Dermatol Reports ; 14(4): 9492, 2022 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-36483219

RESUMO

Febrile Ulceronecrotic Mucha- Habermann Disease (FUMHD) is a variant of Pityriasis Lichenoides Et Varioliformis Acuta (PLEVA). Although rare, the condition may progress to involve serious complications and even lead to fatal outcomes if diagnosis and appropriate treatment is delayed. A PubMed search following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRIMSA) guidelines was performed to find cases of FUMHD from the earliest records to October 2021. Treatments, complications, and patient outcomes were extracted from the literature and summarized, while a review of quality was also performed. A total of 63 publications with 68 patients were found. Successful treatment modalities for FUMHD included antibiotics, antivirals, systemic steroids, Methotrexate (MTX), cyclophosphamide, Cyclosporine (CYA), Intravenous Immunoglobulins (IVIG), pentoxifylline, and ultraviolet B phototherapy. Out of 68 patients, 55 patients had their condition fully resolved and 13 cases were fatal. Increased age, systemic involvement, and monoclonal T-cell receptor rearrangement were associated with worst prognosis, but mucosal involvement did not affect mortality risk. Overall, the publications had low risk of bias, but most lacked adequate follow-up periods. FUMHD is a diagnostic and therapeutic challenge due to the lack of clearly defined diagnostic criteria and optimum treatment. Further studies with larger patient populations and longer follow-up periods may lead to refinement of diagnostic criteria, establish an optimum treatment regimen, and better estimate the likelihood of recurrence.

7.
Ann Allergy Asthma Immunol ; 128(5): 488-504, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35288275

RESUMO

OBJECTIVE: Provide a review of atopic dermatitis management, focusing on optimizing topical therapy, creating a stepwise approach for treatment plans, and providing guidance on when to start systemic therapy. DATA SOURCES: PubMed search of articles in the English language regarding atopic dermatitis in all ages. STUDY SELECTION: Articles on the subject matter were selected and reviewed. RESULTS: Topical corticosteroids are the first-line treatment for managing atopic dermatitis. Topical nonsteroidal agents, calcineurin inhibitors, crisaborole, and recently, ruxolitinib, which cause no cutaneous atrophy, are options for reducing the use of topical corticosteroids, including on sensitive sites. Emerging topical agents are in clinical trials. Proactive management, with continued application 2 to 3 times weekly of a midpotency topical corticosteroid or tacrolimus, may maintain control for clear (or almost clear) localized sites of dermatitis that rapidly recur when topical anti-inflammatory medication is stopped. If topical therapy alone cannot control disease and quality of life is impacted, reevaluation to confirm the diagnosis, manage comorbid conditions, address compliance and patient-specific concerns, and optimize topical therapy must be undertaken before deciding to advance to systemic medication. Dupilumab, an interleukin-4 receptor inhibitor, has become first-line systemic therapy given its efficacy and safety, allowing long-term treatment without laboratory monitoring. Other biologics and Janus kinase inhibitors are emerging as alternatives that could eliminate the need for immunosuppressants with their higher risks. CONCLUSION: Several options are now available for topical treatment. A stepwise approach is needed to consider alternative therapies and diagnoses before advancing to systemic treatment, but the safety of newer immunomodulators will lower the threshold for more aggressive intervention.


Assuntos
Dermatite Atópica , Fármacos Dermatológicos , Administração Tópica , Inibidores de Calcineurina/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Glucocorticoides/uso terapêutico , Humanos , Qualidade de Vida , Tacrolimo/uso terapêutico
10.
Glob Pediatr Health ; 4: 2333794X17691436, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28321437
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