scholarly journals Netherton Syndrome: Case Report and Review of the Literature

2021 ◽  
pp. 1-5
Author(s):  
Maira E. Herz-Ruelas ◽  
Sonia Chavez-Alvarez ◽  
Juana Irma Garza-Chapa ◽  
Jorge Ocampo-Candiani ◽  
Victor Andres Cab-Morales ◽  
...  
Keyword(s):  
Lentiviral Vector ◽  
Topical Therapy ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Calcineurin Inhibitors ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Narrowband Uvb ◽  
Systemic Treatments ◽  
Ichthyosis Linearis Circumflexa

Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene. It is characterized by a triad consisting of atopic diathesis, ichthyosis linearis circumflexa, and hair shaft abnormalities. Ichthyosis linearis circumflexa can be confused with atopic dermatitis leading to a delayed diagnosis. Furthermore, difficulty in making the differential diagnosis with other atopiform, erythrodermic, and ichthyosiform entities that exhibit hair shaft abnormalities represent a challenge. Trichoscopy is an accessible and noninvasive auxiliary diagnostic tool in these cases; the hair shaft abnormalities found in NS are bamboo, golf tee, and matchstick hairs. Identification of a pathogenic variant in the SPINK5 gene through genetic testing is necessary to confirm the diagnosis. Multiple treatment options are available including topical therapy with emollients, corticosteroids, calcineurin inhibitors, antiseptics, and narrowband UVB phototherapy. Systemic treatments comprehend intravenous immunoglobulins, and advances in the understanding of the pathophysiology of NS have led to more directed therapies with biologics such as infliximab, ixekizumab, secukinumab, ustekinumab, and dupilumab. Treatments currently under investigation include inhibitors of kallikrein 5, cathelicidins, drugs activating the transcription factor nuclear factor erythroid-derived 2-like 2, and gene therapy using autologous keratinocytes induced with a lentiviral vector encoding SPINK5.

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: In recent years, hair shaft anomalies have been described as “matchstick” and “golf tee” signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

A Treatment Algorithm for Moderate to Severe Atopic Dermatitis in Adults

2017 ◽  
Vol 22 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Charles W. Lynde ◽  
Marc Bourcier ◽  
Melinda Gooderham ◽  
Lyn Guenther ◽  
Chih-ho Hong ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Systemic Treatment ◽  
Topical Therapy ◽  
Treatment Options ◽  
Treatment Algorithm ◽  
Current Evidence ◽  
Severe Atopic Dermatitis ◽  
Routine Practice ◽  
Clinical Criteria ◽  
Systemic Treatments

Background: Atopic dermatitis (AD) is a common and chronic inflammatory skin disease. Approximately 10% of adults with AD do not respond adequately to topical therapies and require phototherapy and/or systemic therapy. Objective: To provide a patient-focused approach to the identification and management of adults with AD who require systemic treatment. Methods: A working group of clinicians experienced in managing AD was convened to review and discuss current evidence on the identification and clinical management of adults with moderate to severe AD. Results: We propose a set of simple and practical clinical criteria for selecting candidates for systemic treatment of AD based on their response to first-line topical therapy and 4 clinical measures that are easily incorporated into routine practice. We also suggest a framework for evaluating systemic treatments according to attributes that are important from both a clinician’s and a patient’s perspective. An algorithm was developed proposing a pathway for treatment of moderate to severe AD in adults. Conclusion: Adults with moderate to severe AD that does not respond adequately to topical therapies currently have few safe and effective treatment options. A clinical algorithm could help guide treatment decisions.

scholarly journals Phototherapy in Atopic Dermatitis

2020 ◽  
Author(s):  
Aleksandra Lesiak ◽  
Magdalena Ciazynska ◽  
Joanna Narbutt
Keyword(s):  
Atopic Dermatitis ◽  
Chronic Disease ◽  
Side Effects ◽  
Blue Light ◽  
Topical Therapy ◽  
Calcineurin Inhibitors ◽  
Line Treatment ◽  
Second Line ◽  
Topical Corticosteroids ◽  
Narrowband Uvb

Atopic dermatitis (AD) is an inflammatory, recurrent and chronic disease that occurs in 2–10% of the population. Therapy of AD could be divided into topical (corticosteroids, calcineurin inhibitors) and systemic (cyclosporine, methotrexate, azathioprine or biological treatment). Phototherapy is taken into consideration as a second-line treatment, when topical therapy is unsuccessful. We distinguish many types of phototherapy, e.g. narrowband UVB (311–313 nm), UVA-1 therapy (340–400 nm), UVA/B combination, UVA therapy plus 8-methoxypsoralens (PUVA), 308 nm excimer laser (EL) and blue light. Phototherapy is effective in many cases, whether in adults or in children. It should be remembered that during therapy possible side effects may occur. Among them the risk of carcinogenesis is the most severe.

scholarly journals Educational aspects of rare and orphan lung diseases

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tiago M. Alfaro ◽  
Marlies S. Wijsenbeek ◽  
Pippa Powell ◽  
Daiana Stolz ◽  
John R. Hurst ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Healthcare Professionals ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Reference Network ◽  
Delay In Diagnosis ◽  
Positive Effects ◽  
European Reference Network ◽  
Patient Representatives ◽  
Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

Zosteriform Nevus Comedonicus

2020 ◽  
Vol 11 (SPL4) ◽  
pp. 2609-2612
Author(s):  
Babbita S ◽  
Thillaikkarasi A ◽  
Sathyanarayanana R ◽  
Narasimhalu CRV ◽  
Sulochana Sonti
Keyword(s):  
Topical Therapy ◽  
Treatment Options ◽  
Neck Region ◽  
Surgical Excision ◽  
Hair Follicles ◽  
Treatment Modalities ◽  
Developmental Defect ◽  
Linear Distribution ◽  
Head And Neck Region ◽  
Typical Morphology

Nevus comedonicus is an uncommon cutaneous developmental defect of follicular apparatus characterized by unilateral and linear distribution of bundles of dilated hair follicles filled with keratin plugs. It is usually seen on the head and neck region, trunk and upper arm. This condition may be present at birth or can occur later in life. The term nevus comedonicus is a misnomer as there are no true comedones and is better termed as follicular keratotic nevus. It is also known as nevus zoniforme or nevus acneiformis unilateralis. There are two types of nevus comedonicus, namely inflammatory and non-inflammatory (non-pyogenic). When nevus comedonicus is manifested with other extracutaneous symptoms, it is termed as nevus comedonicus syndrome. Diagnosis is mainly clinical, based on history and typical morphology. As the disease runs a benign course, no aggressive treatment is required. Patients seek treatment, especially for cosmetic purposes and inflammatory type of lesions. Various treatment modalities like topical therapy, surgical excision, lasers are available and treatment options are individualized based on the size and extent of the lesion. We herein present a case of unilateral nevus comedonicus with no systemic associations in a 30-year-old female on her lower limb which is not a common site of occurrence.

scholarly journals New perspectives on the treatment of hidradenitis suppurativa

2021 ◽  
Vol 12 ◽  
pp. 204062232110559
Author(s):  
Victoria Amat-Samaranch ◽  
Eugènia Agut-Busquet ◽  
Eva Vilarrasa ◽  
Lluís Puig
Keyword(s):  
Hidradenitis Suppurativa ◽  
Topical Therapy ◽  
Clinical Manifestations ◽  
Light Therapy ◽  
The Body ◽  
Biologic Agent ◽  
Inflammatory Skin Disease ◽  
Randomized Controlled ◽  
Modifying Factors ◽  
Systemic Treatments

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by the presence of painful nodules, abscesses, chronically draining fistulas, and scarring in apocrine gland-bearing areas of the body. The exact pathogenesis of HS is not yet well understood, but there is a consensus in considering HS a multifactorial disease with a genetic predisposition, an inflammatory dysregulation, and an influence of environmental modifying factors. Therapeutic approach of HS is challenging due to the wide clinical manifestations of the disease and the complex pathogenesis. This review describes evidence for effectiveness of current and emerging HS therapies. Topical therapy, systemic treatments, biological agents, surgery, and light therapy have been used for HS with variable results. Adalimumab is the only US Food and Drug Administration (FDA) approved biologic agent for moderate-to-severe HS, but new therapeutic options are being studied, targeting different specific cytokines involved in HS pathogenesis. Comparing treatment outcomes between therapies is difficult due to the lack of randomized controlled trials. Treatment strategy should be selected in concordance to disease severity and requires combination of treatments in most cases.

Familial Pityriasis Rubra Pilaris: Case Report and Review

2013 ◽  
Vol 17 (4) ◽  
pp. 226-232 ◽  
Author(s):  
Joshua M. Mercer ◽  
Chitra Pushpanthan ◽  
Canagasundrum Anandakrishnan ◽  
Ian D.R. Landells
Keyword(s):  
Autosomal Dominant ◽  
Pediatric Population ◽  
Severe Disease ◽  
Topical Therapy ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Pityriasis Rubra Pilaris ◽  
Gradual Onset ◽  
Systemic Treatments ◽  
Appropriate Therapy

Background: Pityriasis rubra pilaris (PRP) is a rare dermatosis of unknown etiology. Most cases of PRP are sporadic; however, rare cases of familial PRP have been reported. Objectives: To present a case of PRP inherited in an autosomal dominant (AD) fashion and to evaluate the current literature on familial PRP and formulate a comprehensive, up-to-date summary of this rare condition. Methods: PubMed was used to conduct a search for articles pertaining to familial PRP published through May 2011. Results: The first documented case was published in 1910, and 36 subsequent familial cases of PRP have been reported. Familial PRP typically presents very early in childhood, has a gradual onset, and persists throughout life. Given the rarity of this subtype, determining the best therapy has been a challenge. In the pediatric population, a conservative treatment approach, including topical therapy, is frequently used, whereas systemic treatments are reserved for patients with a severe disease that is refractory to therapy. Conclusion: Rare cases of PRP inherited in an AD fashion have been described and tend to have a chronic clinical course and are treatment refractory. Therefore, the awareness of familial PRP is important for early and accurate diagnosis and administration of appropriate therapy.

scholarly journals Tumor Reduction with Pazopanib in a Patient with Recurrent Lumbar Chordoma

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Maurício Fernando Silva Almeida Ribeiro ◽  
Micelange Carvalho de Sousa ◽  
Samir Abdallah Hanna ◽  
Marcos Vinicius Calfat Maldaun ◽  
Ceci Obara Kurimori ◽  
...  
Keyword(s):  
Kinase Inhibitors ◽  
Systemic Treatment ◽  
Treatment Options ◽  
Axial Skeleton ◽  
Low Grade ◽  
Complete Excision ◽  
Systemic Treatments ◽  
Tumor Reduction ◽  
Comprehensive Genomic Profiling ◽  
Multifocal Recurrence

Introduction. Chordomas are rare malignancies of bone origin that occur in the axial skeleton, typically the skull base and lumbar/sacral regions. Although often classified as low-grade neoplasms, its locally infiltrative behavior may result in significant morbidity and mortality. Optimal surgical resection may be curative, but up to 50% of the cases relapse within 5 years, and currently there are no systemic treatments approved in this setting. A large proportion of these tumors express stem-cell factor receptor (c-KIT) and platelet-derived growth factor receptors (PDGFRs), providing a rationale for the use of tyrosine-kinase inhibitors (TKIs). Case report. A 27-year-old male presented with recurrent chordoma of the lumbar spine 4 years after initial diagnosis. Salvage therapies in the interval included repeat resections and radiation therapy. He ultimately developed multifocal recurrence not amenable to complete excision or reirradiation. A comprehensive genomic profiling assay was performed and revealed nondrugable alterations. Decision was made to proceed with systemic treatment with pazopanib 800 mg/day, resulting in tumor reduction (−23.1% reduction in size) and prolonged disease control. Conclusion. For this patient with a multiple recurrent chordoma and limited treatment options, pazopanib resulted in sustained clinical benefit following initial tumor reduction.

Comparison of treatment options in adults with frequently relapsing or steroid-dependent minimal change disease

2020 ◽  
Author(s):  
Cihan Heybeli ◽  
Stephen B Erickson ◽  
Fernando C Fervenza ◽  
Marie C Hogan ◽  
Ladan Zand ◽  
...  
Keyword(s):  
Median Time ◽  
Minimal Change Disease ◽  
Treatment Options ◽  
Calcineurin Inhibitors ◽  
Immunosuppressive Drugs ◽  
Minimal Change ◽  
Line Treatment ◽  
Second Line ◽  
Steroid Dependent ◽  
Time To Relapse

Abstract Background Studies comparing all treatment options for frequently-relapsing/steroid-dependent (FR/SD) minimal change disease (MCD) in adults are lacking. Methods Medical records of 76 adults with FR/SD MCD who were treated with corticosteroids as the first-line therapy were reviewed. Treatment options were compared for the time to relapse, change of therapy and progression (relapse on full-dose treatment). Results Second-line treatments included rituximab (RTX; n = 13), mycophenolate mofetil (MMF; n = 12), calcineurin inhibitors (CNI; n = 26) and cyclophosphamide (CTX; n = 16). During the second-line treatments, 48 (71.6%) patients relapsed at median 17 (range 2–100)  months. The majority of relapses occurred during dose tapering or off drug. Twenty of 65 (30.8%) changed therapy after the first relapse. The median time to relapse after the second line was 66 versus 28 months in RTX versus non-RTX groups (P = 0.170). The median time to change of treatment was 66 and 44 months, respectively (P = 0.060). Last-line treatment options included RTX (n = 8), MMF (n = 4), CNI (n = 3) and CTX (n = 2). Seven (41.2%) patients had a relapse during the last-line treatment at median 39 (range 5–112)  months. The median time to relapse was 48 versus 34 months in the RTX versus non-RTX groups (P = 0.727). One patient in the RTX group died presumably of heart failure. No major adverse event was observed. During the median follow-up of 81 (range 9–355)  months, no patients developed end-stage renal disease. Conclusions Relapse is frequent in MCD in adults. Patients treated with RTX may be less likely to require a change of therapy and more likely to come off immunosuppressive drugs.

scholarly journals Topical Treatment of Truncal Acne with Tretinoin Lotion 0.05% and Azelaic Acid Foam

2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Sharleen St. Surin-Lord ◽  
Judi Miller
Keyword(s):  
Azelaic Acid ◽  
Oral Treatment ◽  
Acne Vulgaris ◽  
Topical Therapy ◽  
Treatment Options ◽  
Case Series ◽  
Oral Antibiotics ◽  
Gastrointestinal Microbiome ◽  
The Face ◽  
Extensive Body

Truncal acne is present in approximately half of all patients with facial acne but is also occasionally seen in isolation. Important considerations when selecting treatment options for adult female acne, whether on the face, back, chest, or shoulders, include patient compliance, treatment response time, tolerability of the treatment, and psychosocial impact of the disease. Oral antibiotics are widely prescribed for truncal acne due to the challenges of applying topical therapy to such an extensive body surface area. In cases of severe inflammatory and nodular acne vulgaris, this may be a reasonable consideration; however, oral antibiotics should only be used for short durations. Overprescription contributes to microbial resistance and may cause disruption of the gastrointestinal microbiome. In many cases of mild, moderate, or even severe truncal acne, combinations of topical therapies may be valid alternatives. The introduction of foam formulations with enhanced percutaneous absorption and tretinoin lotion formulations that incorporate moisturizing/hydrating agents challenges the previously held idea that effective and tolerable treatment of truncal acne requires oral treatment. This case series describes four female African-American patients with truncal acne successfully treated with a combination of tretinoin lotion 0.05% and azelaic acid 15% foam.

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