Recalibrated Scales:  The Use of Low-dose Isotretinoin in a Case of  Epidermolytic Ichthyosis-NPS1 in a Filipino Child

Epidermolytic Ichthyosis (EI) is a rare non-syndromic keratinopathic ichthyosis without definitive treatment. This is a case of EI in a 5-year-old Filipino female who presented with hyperkeratotic scales sparing the palms and soles. Histopathology revealed epidermolytic hyperkeratosis. A trial of treatment with isotretinoin 0.3 mg/kg/day, together with keratolytic agents, urea lotion and lactic acid lotion, resulted in a marked decrease in the thickness of the scales and odor. Interestingly, rebound effects were noted at 0.6 mg/kg/day. Taking into account that EI presents with more skin fragility compared to non-EHK ichthyosis, the authors surmise that there may be a smaller treatment window for patients with EI, which is notably lower than recommended for ichthyosis in general.

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A Comparison between External Beam Radiotherapy and Low Dose-Rate Brachytherapy for Definitive Treatment of Gleason 9&10 (ISUP 5) Prostate Cancer

International Journal of Radiation Oncology*Biology*Physics ◽

10.1016/j.ijrobp.2019.06.1889 ◽

2019 ◽

Vol 105 (1) ◽

pp. E271

Author(s):

J.P. Ciezki ◽

C.A. Reddy ◽

O.Y. Mian ◽

R.D. Tendulkar ◽

J. Ulchaker ◽

...

Keyword(s):

Prostate Cancer ◽

Dose Rate ◽

Low Dose ◽

External Beam Radiotherapy ◽

Definitive Treatment ◽

External Beam ◽

Low Dose Rate ◽

Low Dose Rate Brachytherapy

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Withdrawn: Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis

British Journal of Dermatology ◽

10.1111/bjd.18325 ◽

2019 ◽

Vol 182 (3) ◽

pp. 780-785 ◽

Cited By ~ 2

Author(s):

L. Frommherz ◽

J. Küsel ◽

A. Zimmer ◽

J. Fischer ◽

C. Has

Keyword(s):

Epidermolytic Ichthyosis ◽

Skin Fragility

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Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis)

British Journal of Dermatology ◽

10.1111/j.1365-2133.1994.tb08578.x ◽

1994 ◽

Vol 131 (6) ◽

pp. 767-779 ◽

Cited By ~ 26

Author(s):

A. ISHIDA-YAMAMOTO ◽

R.A.J. EADY ◽

R.A. UNDERWOOD ◽

B.A. DALE ◽

K.A. HOLBROOK

Keyword(s):

Epidermolytic Hyperkeratosis ◽

Epidermolytic Ichthyosis

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Superficial epidermolytic ichthyosis: A rare disorder with the unusual absence of blistering

Our Dermatology Online ◽

10.7241/ourd.20221.22 ◽

2022 ◽

Vol 13 (1) ◽

pp. 89-91

Author(s):

Ashwani Rana ◽

Prajul Mehta

Keyword(s):

Clinical Features ◽

Rare Disorder ◽

Epidermolytic Hyperkeratosis ◽

Epidermolytic Ichthyosis

Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the keratin 2E gene. The clinical features include hyperkeratosis and blistering, but these are milder than in epidermolytic hyperkeratosis. The treatment is symptomatic and involves keratolytics and emollients. Herein, we report a case of SEI with the unusual absence of spontaneous blistering.

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Out of balance: consequences of a partial keratin 10 knockout

Journal of Cell Science ◽

10.1242/jcs.110.18.2175 ◽

1997 ◽

Vol 110 (18) ◽

pp. 2175-2186 ◽

Cited By ~ 2

Author(s):

J. Reichelt ◽

C. Bauer ◽

R. Porter ◽

E. Lane ◽

V. Magin

Keyword(s):

Knockout Mice ◽

Immunogold Electron Microscopy ◽

Cell Periphery ◽

Epidermolytic Hyperkeratosis ◽

Skin Fragility ◽

Normal Architecture ◽

Keratin 1 ◽

Keratin 6

Recently we generated keratin 10 knockout mice which provided a valuable model for the dominantly inherited skin disorder epidermolytic hyperkeratosis. Here we investigated the molecular basis for their phenotype. Hetero- and homozygotes expressed a truncated keratin 10 peptide which has been identified directly by microsequencing. Epitope mapping of monoclonal antibodies to keratin 10T enabled us to study its distribution relative to keratin 6, which is highly expressed in keratin 10 knockout mice, by double-immunogold electron microscopy. This revealed that keratin 10T was restricted to complexes with keratin 1 but did not mix with keratin 6. The latter did not form extended filaments with keratins 16/17 but aggregates. Keratins 6/16 were unable to compensate for the lack of normal keratin 1/10 filaments. Remarkably keratin 6 aggregates strictly colocalized with keratohyalin granules. Residual keratin 1/10T clumps were located in the cell periphery and at desmosomes which maintained a normal architecture. Surprisingly keratin 2e, a keratin tailored to sustain mechanical stress, was completely lost in paw sole epidermis of homozygous keratin 10 knockout mice, pointing to keratin 10 as its partner. The selective pairing of keratin 10T and the loss of keratin 2e indicate that in vivo keratins are less promiscuous than in vitro. Skin fragility in keratin 10 knockout mice and in epidermolytic hyperkeratosis is probably the consequence of two complementing mechanisms namely a decrease of normal keratin 1/10 filaments and an increase in keratins 6/16 with a poor filament-forming capacity.

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Management of Epidermolytic Ichthyosis in the Newborn

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.35.1.19 ◽

2016 ◽

Vol 35 (1) ◽

pp. 19-30 ◽

Cited By ~ 6

Author(s):

Mondell Avril ◽

Cheryl Riley

Keyword(s):

Multidisciplinary Approach ◽

Autosomal Dominant ◽

Ethical Issues ◽

Successful Management ◽

Newborn Period ◽

Case Presentation ◽

Bullous Disease ◽

Epidermolytic Ichthyosis ◽

Skin Fragility ◽

Keratin 1

AbstractEpidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder.1 Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.

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Rapid Decline of Follicular Lymphoma-Associated Chylothorax after Low Dose Radiotherapy to Retroperitoneal Lymphoma Localization

Case Reports in Hematology ◽

10.1155/2014/684689 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Lien Van De Voorde ◽

Ben Vanneste ◽

Jacques Borger ◽

Esther G. C. Troost ◽

Philo Werner

Keyword(s):

Follicular Lymphoma ◽

Low Dose ◽

Marked Decrease ◽

Underlying Disease ◽

Rapid Decline ◽

Complete Regression ◽

Low Dose Radiotherapy ◽

Pelvic Inlet ◽

Coeliac Trunk

Chylothorax is caused by disruption or obstruction of the thoracic duct or its tributaries that results in the leakage of chyle into the pleural space. A number of interventions have been used to treat chylothorax including the treatment of the underlying disease. Lymphoma is found in 70% of cases with nontraumatic malignant aetiology. Although patients usually have advanced lymphoma, supradiaphragmatic disease is not always present. We discuss the case of a 63-year-old woman presenting with progressive respiratory symptoms due to chylothorax. She was diagnosed with a stage IIE retroperitoneal grade 1 follicular lymphoma extending from the coeliac trunk towards the pelvic inlet. Despite thoracocentesis and medium-chain triglycerides (MCT), diet chylothorax reoccurred. After low dose radiotherapy (2×2 Gy) to the abdominal lymphoma there was a marked decrease in lymphadenopathy at the coeliac trunk and a complete regression of the pleural fluid. In this case, radiotherapy was shown to be an effective nontoxic treatment option for lymphoma-associated chylothorax with long-term remission of pleural effusion.

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Low-Dose-Rate Brachytherapy Boosting Concurrent Chemoradiation as a Definitive Treatment Modality for Cervical Cancer

American Journal of Clinical Oncology ◽

10.1097/coc.0000000000000035 ◽

2016 ◽

Vol 39 (2) ◽

pp. 196-203 ◽

Cited By ~ 2

Author(s):

Tamer Refaat ◽

Eric D. Donnelly ◽

Michelle Gentile ◽

Caroline Novak ◽

Ye Yuan ◽

...

Keyword(s):

Cervical Cancer ◽

Dose Rate ◽

Treatment Modality ◽

Low Dose ◽

Concurrent Chemoradiation ◽

Definitive Treatment ◽

Low Dose Rate ◽

Low Dose Rate Brachytherapy

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Review of annual compliance of low-dose CT for lung cancer screening among internal medicine resident physicians in a university teaching program.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.e19187 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. e19187-e19187

Author(s):

Nerea Lopetegui-Lia ◽

Dimitrios Drekolias ◽

Syed Imran Mustafa Jafri ◽

James Vredenburgh

Keyword(s):

Internal Medicine ◽

Lung Cancer ◽

Cancer Screening ◽

Low Dose ◽

Lung Cancer Screening ◽

Smoking History ◽

Definitive Treatment ◽

Internal Medicine Residents ◽

Annual Screening

e19187 Background: Lung cancer remains the leading cause of morbidity and mortality, with an estimated 2.1 million newly diagnosed cases each year. A large percentage of cases are detected at an advanced stage, making treatment recalcitrant. Only about 15% are diagnosed at an early stage, highlighting the significance of timely screening. USPSTF recommends annual screening with low-dose computed tomography (LDCT) in adults aged 55-80, who have a 30 pack-year smoking history and are current smokers, or former smokers who have quit within the last 15 years. The National Comprehensive Cancer Network (NCCN) guidelines, as well as the National Lung Screening Trial (NLST), recommend annual screening with LDCT until a person is no longer a candidate for definitive treatment. This study aimed to evaluate the compliance with annual LDCT based on USPSTF guidelines among internal medicine residents from the University of Connecticut residency program at a Clinic in Hartford, Connecticut, USA. Methods: Patients who were under the care of internal medicine residents and who had undergone an initial LDCT for lung cancer screening were included. A total of 61 medical charts were reviewed. Three patients were diagnosed with lung cancer and nineteen patients had their initial LDCT in 2019, and therefore excluded. Results: Out of the 39 patients, 10 patients (25.64%) had a follow-up annual LDCT performed, 2 patients before the annual mark due to various clinical concerns, and 9 patients (23%) in the following 24-48 months. 6 patients (15.38%) had a repeat LDCT ordered but was not done or it was canceled. 12 patients (30.77%) had no repeat LDCT ordered at 12 months. Overall, 69.23% had no follow-up CT at 12 months, and 46.15% with no follow up CT at all at the time of chart review. Conclusions: Based on our analysis, follow-up annual LDCT scans for lung cancer screening on patients under the care of residents-in-training are not being ordered frequently enough. The failure to order annual LDCT could be due to a false sense of relief with a normal initial LDCT, the lack of provider’s awareness of USPSTF guidelines, or insurance issues. Educating primary care providers on the importance of follow-up annual LDCT will ensure early detection and decrease mortality from lung cancer in high risk patient population.

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