Rare Disease Patients as Potential Organ Donors.

Transplant Proc. 2020 Jun;52(5):1522-1524

Authors: Peritore D, Trapani S, La Rocca V, Oliveti A, Fiaschetti P, Montemurro A, Lombardini L, Cardillo M

Abstract
BACKGROUND: Rare diseases (RDs) are a heterogeneous group of pathologies, which, when present in a donor, with their anatomic or functional deficiencies, may put the recipient at risk. The aim of our work is to analyze the incidence of RDs in our donors to support transplant experts in the evaluation of these organs.
METHODS: We retrospectively assessed the incidence of RDs in donors from July 2017 to June 2019, along with the risk attributed, the number of transplanted organs, and the follow-up results of the recipients.
RESULTS: Over a 24-month period, we had 19 donors with RDs. Of those, the organs of 4 donors were rejected before the risk assessment, the organs of 4 other donors were deemed an unacceptable risk, the organs of 4 more donors were rejected by transplant centers, and the organs of 7 donors were accepted with 16 organs ultimately transplanted (2 hearts, 3 livers, and 11 kidneys). Three of the recipients died of causes not related to the RDs. Thirteen of the recipients are still alive with a functioning organ with an average follow-up of 9 months.
CONCLUSIONS: Although the evaluation of the results is influenced by the limited follow-up period, the use of donors with RDs has proved safe. One of the critical issues encountered in the evaluation process was the impossibility of carrying out genetic and histologic investigations for each organ in urgency. Moreover, the heterogeneity of RDs and the lack of solid literature data require, for the purpose of assessing the level of risk, a specific assessment of individual cases. To overcome these limitations, a group of experts was set up at the Superior Health Council, who drafted a reference document, which allowed for the assessment of the suitability and risk level of donors with the most frequent RDs.

PMID: 32299708 [PubMed - indexed for MEDLINE]

Rare complication of COVID-19 presenting as isolated headache.

BMJ Case Rep. 2020 Oct 29;13(10):

Authors: Asif R, O' Mahony MS

Abstract
An 18-year-old man presented with persistent isolated headache 2 weeks after recovering from acute COVID-19 illness. Extensive cerebral venous sinus thrombosis (CVST) was detected on CT venogram despite him having no other thrombotic risk factors. CVST can complicate COVID-19. A high index of clinical suspicion is warranted as it can often have a subtle presentation with paucity of neurological symptoms.

PMID: 33122242 [PubMed - indexed for MEDLINE]

Guillain-Barré syndrome after COVID-19 in Japan.

BMJ Case Rep. 2020 Oct 29;13(10):

Authors: Hirayama T, Hongo Y, Kaida K, Kano O

Abstract
We report the first case of Guillain-Barré syndrome (GBS) associated with SARS-CoV-2 infection in Japan. A 54-year-old woman developed neurological symptoms after SARS-CoV-2 infection. We tested for various antiganglioside antibodies, that had not been investigated in previous cases. The patient was diagnosed with GBS based on neurological and electrophysiological findings; no antiganglioside antibodies were detected. In previous reports, most patients with SARS-CoV-2-infection-related GBS had lower limb predominant symptoms, and antiganglioside antibody tests were negative. Our findings support the notion that non-immune abnormalities such as hyperinflammation following cytokine storms and microvascular disorders due to vascular endothelial damage may lead to neurological symptoms in patients with SARS-CoV-2 infection. Our case further highlights the need for careful diagnosis in suspected cases of GBS associated with SARS-CoV-2 infection.

PMID: 33122241 [PubMed - indexed for MEDLINE]

Secondary Plasma Cell Leukaemia.

J Ayub Med Coll Abbottabad. 2020 Apr- Jun;32(2):277-279

Authors: Idris M, Farid J, Javed N

Abstract
Plasma cell leukaemia is a clinical condition in which plasma cells circulating in the peripheral blood constitute >20% of white blood cells (WBC) and there is evidence of plasma cell monoclonality. It is important to be diagnosed early for better treatment outcome. Although it is a rare disease, cases have been reported from Pakistan and other countries (including our neighbouring countries), hence making this case report. After taking history of present and past ailments, physical examination was carried out. Blood and bone marrow sampling were done after taking informed written consent from the patient. Blood samples were obtained in plain bottle, anticoagulated bottle and bone marrow was obtained from posterior iliac spine under 2% lignocaine. Plasma cell leukaemia is a rare and aggressive disease, difficult to diagnose and treat, requires early recognition and therapeutic intervention.

PMID: 32584011 [PubMed - indexed for MEDLINE]

Granular Cell Tumor: A Rare Breast Lesion.

Acta Med Port. 2020 Jan 03;33(1):61-64

Authors: Dutra S, Marques JC

Abstract
Granular cell tumors are uncommon, and are usually benign neoplasms that can mimic malignancy on breast imaging tests. These tumors can originate anywhere in the body and the breast accounts for only a few cases of all granular cell tumors. We report a case of a 54-year-old woman with a granular cell tumor of the breast presenting clinically on breast imaging (ultrasound, mammography and magnetic resonance) as a suspicious lesion. Core needle biopsy was performed for tissue diagnosis and was consistent with granular cell tumor that was confirmed in the histopathological report of the surgical specimen following a breast lumpectomy. Given the rarity of this tumor, we present this case to highlight this diagnostic hypothesis, that can be challenging and frequently confused with breast carcinoma.

PMID: 31928605 [PubMed - indexed for MEDLINE]

Long-term outcomes of patients with end-stage kidney disease due to membranoproliferative glomerulonephritis: an ANZDATA registry study.

BMC Nephrol. 2019 11 21;20(1):417

Authors: Wilson GJ, Cho Y, Teixiera-Pinto A, Isbel N, Campbell S, Hawley C, Johnson DW

Abstract
BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of end stage kidney disease (ESKD) and the clinical outcomes of patients with MPGN who commence kidney replacement therapy have not been comprehensively studied.
METHODS: All adult patients with ESKD due to glomerulonephritis commencing kidney replacement therapy in Australia and New Zealand from January 1, 1996 to December 31, 2016 were reviewed. Patients with ESKD due to MPGN were compared to patients with other forms of glomerulonephritis. Patient survival on dialysis and following kidney transplantation, kidney recovery on dialysis, time to transplantation, allograft survival, death-censored allograft survival and disease recurrence post-transplant were compared between the two groups using Kaplan Meier survival curves and Cox proportional hazards regression.
RESULTS: Of 56,481 patients included, 456 (0.8%) had MPGN and 12,660 (22.4%) had another form of glomerulonephritis. Five-year patient survival on dialysis and following kidney transplantation were similar between patients with ESKD from MPGN and other forms of glomerulonephritis (Dialysis: 59% vs. 62% p = 0.61; Transplant: 93% vs. 93%, p = 0.49). Compared to patients with other forms of glomerulonephritis, patients with MPGN had significantly poorer 5-year allograft survival (70% vs. 81% respectively, p = 0.02) and death censored allograft survival (74% vs. 87%, respectively; p < 0.01). The risk of disease recurrence was significantly higher in patients with MPGN compared to patients with other glomerulonephritidites (18% vs. 5%; p < 0.01). In patients with MPGN who had allograft loss, patients with MPGN recurrence had a significantly shorter time to allograft loss compared to patients with MPGN who had allograft loss due to any other cause (median time to allograft loss 3.2 years vs. 4.4 years, p < 0.01).
CONCLUSIONS: Compared with other forms of glomerulonephritis, patients with MPGN experienced comparable rates of survival on dialysis and following kidney transplantation, but significantly higher rates of allograft loss due to disease recurrence.

PMID: 31752734 [PubMed - indexed for MEDLINE]

16 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/11

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

16 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/11

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Penetration, distribution, and elimination of remofuscin/soraprazan in Stargardt mouse eyes following a single intravitreal injection using pharmacokinetics and transmission electron microscopic autoradiography: Implication for the local treatment of Stargardt's disease and dry age-related macular degeneration.

Pharmacol Res Perspect. 2020 Dec;8(6):e00683

Authors: Julien-Schraermeyer S, Illing B, Tschulakow A, Taubitz T, Guezguez J, Burnet M, Schraermeyer U

Abstract
Age-related macular degeneration (AMD) is the leading cause of blindness in older people in the developed world while Stargardt's disease (SD) is a juvenile macular degeneration and an orphan disease. Both diseases are untreatable and are marked by accumulation of lipofuscin advancing to progressive deterioration of the retinal pigment epithelium (RPE) and retina and subsequent vision loss till blindness. We discovered that a small molecule belonging to the tetrahydropyridoether class of compounds, soraprazan renamed remofuscin, is able to remove existing lipofuscin from the RPE. This study investigated the drug penetration, distribution, and elimination into the eyes of a mouse model for increased lipofuscinogenesis, following a single intravitreal injection. We measured the time course of concentrations of remofuscin in different eye tissues using high-performance liquid chromatography combined with mass spectroscopy (HPLC-MS). We also visualized the penetration and distribution of 3 H-remofuscin in eye sections up to 20 weeks post-injection using transmission electron microscopic (TEM) autoradiography. The distribution of silver grains revealed that remofuscin accumulated specifically in the RPE by binding to the RPE pigments (melanin, lipofuscin and melanolipofuscin) and that it was still detected after 20 weeks. Importantly, the melanosomes in choroidal melanocytes only rarely bind remofuscin emphasizing its potential to serve as an active ingredient in the RPE for the treatment of SD and dry AMD. In addition, our study highlights the importance of electron microscopic autoradiography as it is the only method able to show drug binding with a high intracellular resolution.

PMID: 33164337 [PubMed - in process]

[Pathophysiology and treatment of adult Langerhans cell histiocytosis].

Rinsho Ketsueki. 2020;61(9):1028-1034

Authors: Tojo A, Kobayashi M

Abstract
Langerhans cell histiocytosis (LCH) is a rare disease characterized by tissue infiltration of clusters of CD1a+/CD207+ histiocyte-like cells and a resultant surrounding inflammatory reaction. Because of its morphological similarity to cutaneous Langerhans cells, LCH was formerly named histiocytosis X in 1987. However, its cell lineage appears closely related to myeloid dendritic cells. In 2010, BRAF-V600E was detected in biopsy specimens from the majority of LCH patients. The subsequent observation of extracellular signal-regulated kinase phosphorylation in almost all LCH samples suggested that LCH was a neoplasm provoked by activation of the mitogen-activated protein (MAP) kinase pathway. Therefore, the 2016 Revised Classification by the Histiocyte Society defined LCH as an inflammatory myeloid neoplasm. Although a series of global and domestic clinical trials have improved the prognosis of pediatric LCH patients, no standard therapy with a high level of evidence for adult cases exists. Generally, LCH patients have a favorable prognosis, but delayed diagnosis and intervention may cause severe damage to the involved organs, resulting in a poor quality of life. Here we present recent advances in the pathophysiology and treatment of LCH to enlighten the understanding of this orphan disease.

PMID: 33162496 [PubMed - in process]

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Clin Genet. 2020 Nov 06;:

Authors: Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM

Abstract
Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bix-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals is developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was fggound to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range towards the severe end of the spectrum with the identification of a novel pathogenic variant.

PMID: 33156547 [PubMed - as supplied by publisher]

Emerging Role for Linear and Circular Spermine Oxidase RNAs in Skeletal Muscle Physiopathology.

Int J Mol Sci. 2020 Nov 03;21(21):

Authors: Reinoso-Sánchez JF, Baroli G, Duranti G, Scaricamazza S, Sabatini S, Valle C, Morlando M, Casero RA, Bozzoni I, Mariottini P, Ceci R, Cervelli M

Abstract
Skeletal muscle atrophy is a pathological condition so far without effective treatment and poorly understood at a molecular level. Emerging evidence suggest a key role for circular RNAs (circRNA) during myogenesis and their deregulation has been reported to be associated with muscle diseases. Spermine oxidase (SMOX), a polyamine catabolic enzyme plays a critical role in muscle differentiation and the existence of a circRNA arising from SMOX gene has been recently identified. In this study, we evaluated the expression profile of circular and linear SMOX in both C2C12 differentiation and dexamethasone-induced myotubes atrophy. To validate our findings in vivo their expression levels were also tested in two murine models of amyotrophic lateral sclerosis: SOD1G93A and hFUS+/+, characterized by progressive muscle atrophy. During C2C12 differentiation, linear and circular SMOX show the same trend of expression. Interestingly, in atrophy circSMOX levels significantly increased compared to the physiological state, in both in vitro and in vivo models. Our study demonstrates that SMOX represents a new player in muscle physiopathology and provides a scientific basis for further investigation on circSMOX RNA as a possible new therapeutic target for the treatment of muscle atrophy.

PMID: 33153123 [PubMed - in process]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/06

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Intraparotid lymph node metastasis from a nasal septal carcinoma: an unusual source of the unknown primary.

BMJ Case Rep. 2020 Feb 25;13(2):

Authors: Williamson AJ, Haywood M, Awad Z

Abstract
Metastatic disease to the parotid lymph nodes typically occurs secondary to head and neck and cutaneous squamous cell carcinomas (SCC). Nasal septal SCC is an exceedingly rare primary cancer that rarely spreads to regional lymph nodes. A 39-year-old man presented with left-sided cervical lymphadenopathy and nasal polyposis. Initial assessment suggested that he may have a head and neck SCC of unknown origin with nodal deposits in close proximity to the parotid gland. Cross-sectional imaging did not reveal the primary source. After further review of imaging and examination under anaesthetic, the primary SCC was found on the left nasal septum. The patient ultimately required a type 1 craniofacial resection and adjuvant chemoradiotherapy to treat the disease. Thorough investigation of the 'unknown primary' SCC including cross-sectional imaging and endoscopic examination is essential for the diagnosis of rare and unusual primary SCCs. Nasal septal SCC can be successfully managed with combined modality treatment in the form of surgical resection and chemoradiotherapy.

PMID: 32102890 [PubMed - indexed for MEDLINE]

Rare case of infiltrative cardiomyopathy secondary to scleromyxoedema.

Intern Med J. 2020 01;50(1):127-128

Authors: Khandkar C, Vaidya K, Penglase R, Cai K, Shin JS, Hunyor I, Keech A, McGill N

PMID: 31943623 [PubMed - indexed for MEDLINE]

Identifying risk groups of infectious spondylitis in patients with end-stage renal disease under hemodialysis: a propensity score-matched case-control study.

BMC Nephrol. 2019 08 16;20(1):323

Authors: Lu KL, Huang WH, Lu YA, Lin CY, Wu HH, Hsu CW, Weng CH, Wu CY, Wu IW, Wu MY, Yen TH, Yang HY

Abstract
BACKGROUND: Patients with end-stage renal disease (ESRD) under hemodialysis (HD) are at greater risks of infectious spondylitis (IS), but there is no reliable predictor that facilitate early detection of this relatively rare and insidious disease.
METHODS: A retrospective review of the medical records from patients with ESRD under HD over a 12-year period was performed at a tertiary teaching hospital, and those with a first-time diagnosis of IS were identified. A 1:4 propensity score-matched case-control study was carried out, and baseline characteristics, underlying diseases, and laboratory data were compared between the study group and the control group, one month before the date of diagnosis or the index date respectively.
RESULTS: A total of 16 patients with IS were compared with 64 controls. After adjustment, recent access operation (odds ratio [OR], 13.27; 95% confidence interval [CI], 3.53 to 49.91; p <  0.001), degenerative spinal disease (OR, 12.87; 95% CI, 1.89 to 87.41; p = 0.009), HD through a tunneled cuffed catheter (OR, 6.75; 95% CI, 1.74 to 26.14; p = 0.006), low serum levels of hemoglobin, albumin, as well as high levels of red blood cell volume distribution width (RDW), alkaline phosphatase (ALP), and high sensitivity C-reactive protein were significant predictors for a IS diagnosis one month later. Receiver operating characteristic curves for hemoglobin, RDW, ALP, and albumin all showed good discrimination. The further multivariate models identified both high serum ALP levels and low serum RDW levels following a recent access intervention in patients with relatively short HD vintages may be indicative of the development of IS.
CONCLUSION: Patients under HD with relatively short HD vintages showing either elevated ALP levels or low RDW levels following a recent access intervention should prompt clinical awareness about IS for timely diagnosis.

PMID: 31419960 [PubMed - indexed for MEDLINE]

Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review.

BMC Nephrol. 2019 08 16;20(1):320

Authors: Kerr K, McAneney H, Flanagan C, Maxwell AP, McKnight AJ

Abstract
BACKGROUND: The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important biomarker for rare diseases and should be evaluated for rare renal conditions.
METHODS: A comprehensive systematic review of methylation and rare renal disorders was conducted by searching the electronic databases MEDLINE, EMBASE, PubMed, Cochrane Library, alongside grey literature from GreyLit and OpenGrey databases, for publications published before September 2018. Additionally, the reference lists of the included papers were searched. Data was extracted and appraised including the primary focus, measurement and methodological rigour of the source. Eligibility criteria were adapted using the inclusion criteria from 'The 100,000 Genomes Project' and The National Registry of Rare Kidney Diseases, with additional focus on methylation.
RESULTS: Thirteen full text articles were included in the review. Diseases analysed for differential methylation included glomerular disease, IgA nephropathy, ADPKD, rare causes of proteinuria, congenital renal agenesis, and membranous nephropathy.
CONCLUSIONS: Differential methylation has been observed for several rare renal diseases, highlighting its potential for improving molecular characterisation of these disorders. Further investigation of methylation following a standardised reporting structure is necessary to improve research quality. Multi-omic data will provide insights for improved diagnosis, prognosis and support for individuals living and working with rare renal diseases.

PMID: 31419951 [PubMed - indexed for MEDLINE]

Very unusual case of a primary sinonasal germ cell tumour.

BMJ Case Rep. 2020 Feb 13;13(2):

Authors: Sadler KA, Hanna C, Melia L, White J

Abstract
Sinonasal malignancies are a very rare diagnosis. We present a unique case of a 32-year-old man who presented with symptoms of worsening sinusitis and periorbital cellulitis. Investigation found a sinonasal malignancy and pathology confirmed this to be a primary germ cell tumour. The patient was managed with chemotherapy, surgery and consolidation radiotherapy and has remained well to date. This case report outlines an unusual presentation and diagnostic challenge for the primary care physician, ear, nose and throat surgeon, pathologist and oncologist with review of the surrounding literature.

PMID: 32060110 [PubMed - indexed for MEDLINE]

Is gastric cancer becoming a rare disease? A global assessment of predicted incidence trends to 2035.

Gut. 2020 05;69(5):823-829

Authors: Arnold M, Park JY, Camargo MC, Lunet N, Forman D, Soerjomataram I

Abstract
OBJECTIVES: The incidence of gastric cancer continues to decrease globally, approaching levels that in some populations could define it as a rare disease. To explore this on a wider scale, we predict its future burden in 34 countries with long-standing population-based data.
METHODS: Data on gastric cancer incidence by year of diagnosis, sex and age were extracted for 92 cancer registries in 34 countries included in Cancer Incidence in Five Continents Plus. Numbers of new cases and age-standardised incidence rates (ASR per 100 000) were predicted up to 2035 by fitting and extrapolating age-period-cohort models.
RESULTS: Overall gastric cancer incidence rates are predicted to continue falling in the future in the majority of countries, including high-incidence countries such as Japan (ASR 36 in 2010 vs ASR 30 in 2035) but also low-incidence countries such as Australia (ASR 5.1 in 2010 vs ASR 4.6 in 2035). A total of 16 countries are predicted to fall below the rare disease threshold (defined as 6 per 100 000 person-years) by 2035, while the number of newly diagnosed cases remains high and is predicted to continue growing. In contrast, incidence increases were seen in younger age groups (below age 50 years) in both low-incidence and high-incidence populations.
CONCLUSIONS: While gastric cancer is predicted to become a rare disease in a growing number of countries, incidence levels remain high in some regions, and increasing risks have been observed in younger generations. The predicted growing number of new cases highlights that gastric cancer remains a major challenge to public health on a global scale.

PMID: 32001553 [PubMed - indexed for MEDLINE]

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

JAMA Dermatol. 2020 02 01;156(2):191-195

Authors: Greco C, Leclerc-Mercier S, Chaumon S, Doz F, Hadj-Rabia S, Molina T, Boucheix C, Bodemer C

Abstract
Importance: Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment. It is most often caused by mutations in the transient receptor potential vanilloid 3 (TRPV3) gene. In animal models and keratinocyte cell lines, TRPV3 signaling leads to epidermal growth factor receptor (EGFR) transactivation.
Objective: To examine the possibility of blocking EGFR transactivation with the inhibitor erlotinib hydrochloride to treat PPK in patients with Olmsted syndrome due to TRPV3 mutations.
Design, Setting, and Participants: In this case series, 3 patients from 2 unrelated families who had TRPV3-mutation-associated PPK were treated with erlotinib from May 5, 2018, through May 13, 2019.
Main Outcomes and Measures: Clinical follow-up included evaluation of PPK progression, pain and interventions for pain, as well as erlotinib dose adjustment based on treatment effect, plasma levels, and tolerance.
Results: The 3 patients (2 brothers aged 15 and 17 years and a 13-year-old girl) had severe palmoplantar hyperkeratosis, intolerable pain with erythromelalgia, severe growth delay, anorexia, and insomnia, which had been progressing since infancy despite numerous therapies. Two patients were confined to wheelchairs owing to intense pain and joint restrictions because of hyperkeratosis. All patients experienced depression and did not engage in social activities. Within 3 months of initiating therapy with erlotinib, hyperkeratosis and pain disappeared. All patients were able to touch the ground with their feet, wear shoes, and walk. Anorexia and insomnia remitted and paralleled improved growth. In addition, the patients resumed social activities. These improvements were sustained across 12 months of treatment and follow-up. The doses of erlotinib used were lower than those used in oncology, and only mild to moderate adverse effects were noted.
Conclusions and Relevance: The findings of this study report improvement of PPK in patients with Olmsted syndrome caused by TRPV3 mutations when treated with erlotinib. Targeting EGFR transactivation with erlotinib therapy may result in clinical remission in an orphan disease that lacks an effective intervention.

PMID: 31895432 [PubMed - indexed for MEDLINE]