54,594 results match your criteria syndrome skin


Skin necrosis due to post-treatment care failure after photodynamic therapy of facial port-wine stain in Sturge-Weber Syndrome - A case report.

Photodiagnosis Photodyn Ther 2021 Sep 22:102546. Epub 2021 Sep 22.

Department of Plastic and Reconstructive Surgery, Zhejiang Provincial People's Hospital, affiliated of Hangzhou Medical College, Hangzhou China.

We report on a case of photodynamic therapy (PDT) of large facial port-wine stain (PWS) in 5-year-old patient with Sturge-Weber Syndrome (SWS). Improvement was achieved after the first session without severe adverse reactions, however, prolonged swelling, infection and skin necrosis occurred after the second session, mainly due to failure of post-treatment care. The case demonstrates that post-treatment care is critical for PDT of large facial PWS, particularly for SWS patients. Read More

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September 2021

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio.

J Invest Dermatol 2021 Jul 15. Epub 2021 Jul 15.

Department of Dermatology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA. Electronic address:

Despite thousands of reported patients with pandemic-associated pernio, low rates of seroconversion and PCR positivity have defied causative linkage to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Pernio in uninfected children is associated with monogenic disorders of excessive IFN-1 immunity, whereas severe COVID-19 pneumonia can result from insufficient IFN-1. Moreover, SARS-CoV-2 spike protein and robust IFN-1 response are seen in the skin of patients with pandemic-associated pernio, suggesting an excessive innate immune skin response to SARS-CoV-2. Read More

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68Ga-DOTA-FAPI-04 PET/CT Imaging in a Case of SAPHO Syndrome.

Clin Nucl Med 2021 Sep 22. Epub 2021 Sep 22.

From the Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, PR China; Nuclear Medicine and Molecular Imaging Key Laboratory of Sichuan Province, Luzhou, Sichuan, PR China; and Academician (Expert) Workstation of Sichuan Province, PR China.

Abstract: A 66-year-old woman presented with anterior chest wall and knee joints pain and multiple skin lesions. 99mTc-MDP bone scintigraphy showed increased bone density in the sternal angle with abnormal bone metabolism. The patient was enrolled in a 68Ga-DOTA-FAPI-04 PET/CT tumor clinical trial, and it showed increased tracer uptake in the sternum and right knee joint. Read More

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September 2021

Pediatric COVID-19 infection in Sulaimaniyah Governorate, Iraq.

Am J Otolaryngol 2021 Sep 3;43(1):103199. Epub 2021 Sep 3.

Doctor Jamal Ahmed Rashid Pediatric Teaching Hospital, Sulaimaniyah, Iraq.

Background: COVID-19 is a severe acute respiratory syndrome caused by SARS-CoV-2.

Objective: To study the demographic and clinical presentations of COVID-19 with their types including MIS-C and Kawasaki among children who were admitted to Doctor Jamal Ahmad Rashid Pediatric Teaching Hospital (DJARPTH) at Sulaimaniyah city, Iraq.

Patients And Methods: A prospective cohort study was conducted from June to December 2020 in which 50 cases suspected of COVID-19 were enrolled in the study that was admitted at the first visit to the emergency department of DJARPTH and their age ranged between 3 months to 14 years. Read More

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September 2021

Association between adult attention-deficit hyperactivity disorder and generalised joint hypermobility: A cross-sectional case control comparison.

J Psychiatr Res 2021 Jul 5;143:334-340. Epub 2021 Jul 5.

Faculty of Medicine and Health, University Health Care Research Centre, Örebro University Campus USÖ, 70182, Örebro, Sweden; School of Medical Sciences Örebro, Örebro University Campus USÖ, 70182, Örebro, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, 17177, Stockholm, Sweden.

Growing evidence suggests an unexpected association between generalised joint hypermobility (GJH) and several psychiatric conditions, and a shared pathophysiology has been proposed. No previous studies on adult attention-deficit/hyperactivity disorder (ADHD) are available. This study aimed to evaluate the association between adult ADHD and GJH. Read More

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Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene.

Stem Cell Res 2021 Sep 20;56:102539. Epub 2021 Sep 20.

The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel. Electronic address:

LAP1 is an inner nuclear membrane protein encoded by TOR1AIP1. A homozygous c.961C > T loss of function mutation in TOR1AIP1 that affects both isoforms of LAP1 was recently described. Read More

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September 2021

Fever, rash, and eosinophilia - early signs of angioimmunoblastic T-cell lymphoma.

Ann Agric Environ Med 2021 Sep 19;28(3):525-530. Epub 2021 Aug 19.

Chair and Department of Dermatology, Venerology and Paediatric Dermatology, Faculty of Medicine, Medical University, Lublin, Poland.

Angioimmunoblastic T-cell lymphoma (AITL) is an uncommon lymphoma of elderly adults with a poor prognosis. AITL patients show systemic symptoms, lymphadenopathy, and not infrequently, skin rash with various dysimmune phenomena rashes. The case is presented of a 68-year-old male with skin rash, lymphadenopathy and hypereosinophilia who, after investigations, was diagnosed with AITL. Read More

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September 2021

Cutaneous Pathology of COVID-19 as a Window into Immunologic Mechanisms of Disease.

Dermatol Clin 2021 Oct 22;39(4):533-543. Epub 2021 Jul 22.

Department of Microbiology and Immunology, University of California, San Francisco, San Francisco, CA, USA; Department of Dermatology, University of California, San Francisco, 513 Parnassus Avenue, Room HSE1001E, San Francisco, CA 94143, USA. Electronic address:

Many skin manifestations of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection reflect activation of cutaneous and systemic immune responses involving effector pathways of both the innate and adaptive arms of the immune system. This article reviews evidence from the recent clinical and scientific literature that informs the current understanding of the consequences of coronavirus disease 2019 (COVID-19)-induced immune cell activation, as relevant to dermatology. Topics include the clinical consequences of autoantibody production in patients with COVID-19, immunologic evidence for chilblains as a manifestation of SARS-CoV-2 infection, and the relationship between type I interferons and COVID-19 disease severity. Read More

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October 2021

Cutaneous Manifestations of COVID-19 in the Inpatient Setting.

Dermatol Clin 2021 Oct 28;39(4):521-532. Epub 2021 May 28.

Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USA. Electronic address:

Cutaneous findings have increasingly been reported in patients with coronavirus disease 2019 (COVID-19). This review discusses associated skin findings in patients with COVID-19 in the inpatient setting, ranging from vasculopathy-related lesions associated with high hospitalization rate and poor prognosis to inflammatory vesicular and urticarial eruptions that are rarely associated with prolonged hospitalization. We also discuss other reported COVID-19 cutaneous manifestations such as Sweet's syndrome, purpuric eruptions, and Multisystem Inflammatory Syndrome in Children. Read More

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October 2021

Basal cell carcinoma on the ventral site of the finger with an intronic deletion of SUFU gene.

J Eur Acad Dermatol Venereol 2021 Sep 23. Epub 2021 Sep 23.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Basal cell carcinoma (BCC) is the most frequent skin tumor and generally occurs on the hair-bearing skin of sun-exposed areas. In patients with nevoid basal cell carcinoma syndrome (NBCCS), some patients develop BCC on their palms and soles. In contrast, sporadic BCC on palms and soles is very rare in patients without genetic disposition. Read More

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September 2021

Acute heart failure with dilated cardiomyopathy as the first manifestation of eosinophilic granulomatosis with polyangiitis.

J Eur Acad Dermatol Venereol 2021 Sep 23. Epub 2021 Sep 23.

Department of Dermatology, Skin Institute, Hualian Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a rare disease with necrotising vasculitis, occurring exclusively among patients with asthma and eosinophilia. Antineutrophil cytoplasmic antibody (ANCA)-positive patients with predominant 'vasculitic' manifestations more frequently exhibit peripheral nerve, renal, and skin involvement, while ANCA-negative patients with prominent 'eosinophilic' manifestations more commonly demonstrate cardiac and lung involvement. Read More

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September 2021

Emergence of cutaneous Rosai-Dorfman disease during immunosuppressive treatment of follicular B-cell lymphoma: A case report.

SAGE Open Med Case Rep 2021 16;9:2050313X211046455. Epub 2021 Sep 16.

Department of Dermatology and Skin Science, The University of British Columbia, Vancouver, BC, Canada.

Background: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare proliferation of non-Langerhans histiocytes. Cutaneous Rosai-Dorfman disease is a rare subtype of Rosai-Dorfman disease limited to the skin with variable clinical presentation.

Case Summary: A 59-year-old female with a history of osteoarthritis, hypothyroidism, and follicular B-cell lymphoma presented with pruritic, erythematous, dome-shaped papules that developed while on chemotherapy treatment. Read More

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September 2021

COVID-19-related oral mucosa lesions among confirmed SARS-CoV-2 patients: a systematic review.

Int J Dermatol 2021 Sep 22. Epub 2021 Sep 22.

Department of Dermatology and Venereology, Koç University School of Medicine, İstanbul, Turkey.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the virus responsible for coronavirus disease 2019 (COVID-19), which manifests as a flu-like respiratory infection affecting multiple organ systems, including the gastrointestinal system, central nervous system, cardiovascular system, skin, and mucosa. In this review, we investigated the literature on specific manifestations of COVID-19 in the oral mucosa. An online literature search in PubMed, Scopus, Google Scholar, and Medline was conducted to retrieve relevant studies on confirmed COVID-19 patients with oral mucosa findings published between December 31, 2019, and April 07, 2021. Read More

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September 2021

Single-center survey of biologic use for inflammatory skin diseases during the coronavirus disease 2019 pandemic.

J Dermatol 2021 Sep 21. Epub 2021 Sep 21.

Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.

Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The ongoing COVID-19 pandemic has affected both daily life and medical care; therefore, the aim of this study was to analyze the use of biologics for inflammatory skin diseases during the COVID-19 pandemic in our hospital. The observation period was between 1 January 2020 and 23 February 2021. Read More

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September 2021

Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.

Neurol Genet 2021 Dec 14;7(6):e625. Epub 2021 Sep 14.

Department of Neurology (D.H.), Sankt Goran Hospital; Department of Molecular Medicine and Surgery (C.O., K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.), Department of Cardiovascular Medicine (C.O.), and Department of Neurology (T.M.), Karolinska University Hospital; and Department of Clinical Neuroscience (T.M.), Karolinska Institutet, Stockholm, Sweden.

Objectives: Loeys-Dietz syndrome (LDS) is a rare genetic cause of stroke associated with connective tissue disorders but is not well known among stroke physicians. The main objectives of this case report are to increase awareness of this condition and to improve stroke prevention at follow-up visits.

Methods: A patient with aortic and carotid artery dissection who had undergone 2 major aortic surgeries with mechanical composite graft and treated with full-dose anticoagulation was reevaluated by neurologists due to retinal hypoperfusion symptoms. Read More

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December 2021

Deep neural network for early image diagnosis of Stevens-Johnson syndrome/toxic epidermal necrolysis.

J Allergy Clin Immunol Pract 2021 Sep 18. Epub 2021 Sep 18.

Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address:

Background: Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) is a life-threatening cutaneous adverse drug reaction (cADR). However, distinguishing SJS/TEN from non-severe cADRS is difficult, especially in the early stages of the disease.

Objective: To overcome this limitation, we developed a computer-aided diagnosis system for the early diagnosis of SJS/TEN, powered by a deep convolutional neural network (DCNN). Read More

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September 2021

Skin manifestations associated with systemic diseases - Part 1.

An Bras Dermatol 2021 Sep 17. Epub 2021 Sep 17.

Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. Read More

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September 2021

Sorafenib-related generalized eruptive keratoacanthomas (Grzybowski syndrome): a case report.

J Med Case Rep 2021 Sep 21;15(1):481. Epub 2021 Sep 21.

Flinders Centre for Innovation in Cancer, Flinders Medical Centre, Adelaide, South Australia, Australia.

Background: Sorafenib is an oral multikinase inhibitor that targets Raf serine/threonine receptor tyrosine kinases and inhibits tumor cell growth and angiogenesis. Cutaneous toxicities of sorafenib are common, including cutaneous eruptions (such as truncal erythema and seborrheic-dermatitis-like changes) and hand-foot syndrome. Keratoacanthomas and squamous cell carcinomas have been reported previously; however, we report a case of multiple eruptive keratoacanthomas in the form of Grzybowski syndrome after initiation of sorafenib. Read More

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September 2021

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.

BMC Med Genomics 2021 09 20;14(1):230. Epub 2021 Sep 20.

Department of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.

Background: The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the MITF gene of WS2 patients are reported in a sizable Iranian family.

Methods: A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear), complete heterochromia iridis, premature graying prior to 30 years of age, and synophrys. Read More

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September 2021

Case Report: PsAPSASH syndrome: an alternative phenotype of syndromic hidradenitis suppurativa treated with the IL-17A inhibitor secukinumab.

F1000Res 2021 13;10:381. Epub 2021 May 13.

Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Dessau, 06847, Germany.

Syndromic hidradenitis suppurativa (HS) is a form of symptom constellations, which differs from the familial and genetic form and comprises predominantly osteoarticular manifestations. Many forms include pyoderma gangrenosum and acne (PASH), pyogenic arthritis (PAPASH), spondyloarthritis (PASS) and psoriatic arthritis (PsAPASH) and are categorized in the autoinflammatory syndromes. Anti-TNF-α and anti-IL-1a blockade are between the therapeutic approaches that improve skin symptoms and prevent permanent osteoarticular damage. Read More

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Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.

J Allergy Clin Immunol 2021 Sep 17. Epub 2021 Sep 17.

INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, 75015 Paris, France; University of Paris, 75006 Paris, France; Department of Genetics, Necker Hospital for sick children (AP-HP), 75015 Paris, France. Electronic address:

Background: Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in SPINK5 encoding the protease inhibitor LEKTI. NS patients suffer from a severe skin barrier defect, display inflammatory skin lesions and superficial scaling with atopic manifestations. They present with typical ichthyosis linearis circumflexa (NS-ILC) or scaly erythroderma (NS-SE). Read More

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September 2021

Case 294: Catastrophic Antiphospholipid Syndrome.

Radiology 2021 Oct;301(1):242-246

From the Departments of Radiology (M.G., M.B., M.P.R.) and Internal Medicine (N.C.C.), Cochin Hospital, APHP.Centre, 27 Rue du Fg St Jacques, Paris 75014, France; and Université de Paris, Paris, France (M.B., N.C.C., M.P.R.).

History A 50-year-old woman presented to the emergency department of our hospital with a 2-day history of lower limb pain associated with unusual asthenia and diffuse arthralgia over the past 3 weeks. She was a native of Guinea and had lived in France for most of her life, working as a personal care assistant. Her only medical history of note was an occurrence of fetal death at 12 weeks gestation when she was 35 years old. Read More

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October 2021

Accuracy of body mass index in categorizing weight status in children with intellectual and developmental disabilities.

J Pediatr Rehabil Med 2021 Sep 17. Epub 2021 Sep 17.

Pediatrics, Eunice Kennedy Shriver Center, University of Massachusetts Medical School, Boston, MA, USA.

Purpose: To identify the accuracy of Body Mass Index (BMI) to categorize body weight in a sample of children with spina bifida and Down syndrome as compared to typically developing peers.

Methods: A secondary analysis of 32 children with spina bifida, Down syndrome or no chronic illness. A calculated BMI was plotted on the Centers for Disease Control and Prevention age- and sex-specific BMI growth charts to determine each child's weight status. Read More

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September 2021

Discovery of potential SARS-CoV 3CL protease inhibitors from approved antiviral drugs using: virtual screening, molecular docking, pharmacophore mapping evaluation and dynamics simulation.

J Biomol Struct Dyn 2021 Sep 20:1-18. Epub 2021 Sep 20.

Group of Computational and Pharmaceutical Chemistry LMCE Laboratory, University of Biskra, Algeria.

The spread of corona-virus disease 2019 (COVID-19) has been faster than any other corona-viruses that have succeeded in crossing the animal-human barrier. This disease, caused by the severe acute respiratory syndrome corona-virus 2 (SARS-CoV-2/2019-nCoV) posing a serious threat to global public health and local economies. There are three responsible for this disease; SARS-CoV-2, SARS-CoV and MERS-CoV. Read More

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September 2021

A retrospective study on the prevalence of anti-phospholipid antibodies, thrombotic events and cutaneous signs of vasculopathy in 173 hospitalized COVID-19 patients.

Int J Immunopathol Pharmacol 2021 Jan-Dec;35:20587384211042115

Section of Dermatology, Department of Health Sciences (DISSAL), 9302University of Genoa, Genoa, Italy.

Background: Hypercoagulability is a risk factor of thromboembolic events in COVID-19. Anti-phospholipid (aPL) antibodies have been hypothesized to be involved. Typical COVID-19 dermatological manifestations of livedo reticularis and digital ischemia may resemble cutaneous manifestations of anti-phospholipid syndrome (APS). Read More

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September 2021

Mycosis fungoides and Sézary syndrome.

J Dtsch Dermatol Ges 2021 Sep;19(9):1307-1334

Department of Dermatology, Faculty of Biology and Medicine, University of Lausanne, Switzerland.

Mycosis fungoides (MF) and Sézary syndrome (SS) are primary cutaneous T-cell lymphomas (CTCL) with not yet fully understood etiology and pathogenesis. Conceptually, MF and SS are classified as distinct entities arising from different T helper cell subsets. MF is the most common CTCL entity, while SS is very rare. Read More

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September 2021

A Unique Presentation of Birt-Hogg-Dube Syndrome.

Cureus 2021 Aug 16;13(8):e17227. Epub 2021 Aug 16.

Pulmonary and Critical Care Medicine, Edward Via College of Osteopathic Medicine-Carolinas, Spartanburg, USA.

Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant condition identified by the triad of cutaneous fibrofolliculomas, pulmonary cysts, and renal cell carcinoma. The vast majority of patients with BHD syndrome initially present with spontaneous pneumothorax. This unique case describes a patient with BHD syndrome who presented with sebaceous cysts and perifollicular fibromas. Read More

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Toxic Epidermal Necrolysis Post COVID-19 Vaccination - First Reported Case.

Cureus 2021 Aug 16;13(8):e17215. Epub 2021 Aug 16.

Department of Dermatology, Prince Mohammed Bin Abdulaziz Hospital, Riyadh, SAU.

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a spectrum of acute, delayed-type hypersensitivity reactions that affect the skin and the mucous membranes. Medications are the culprit cause of these disorders in addition to infections and in very rare instances vaccinations. We report a case of TEN in a 49-year-old woman with no previous medical history. Read More

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Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.

Front Genet 2021 3;12:717535. Epub 2021 Sep 3.

Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.

Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan sulfate are covalently attached to specific core proteins to form proteoglycans, which are distributed at the cell surface as well as in the extracellular matrix. Proteoglycans and GAGs have been demonstrated to exhibit a variety of physiological functions such as construction of the extracellular matrix, tissue development, and cell signaling through interactions with extracellular matrix components, morphogens, cytokines, and growth factors. Not only connective tissue disorders including skeletal dysplasia, chondrodysplasia, multiple exostoses, and Ehlers-Danlos syndrome, but also heart and kidney defects, immune deficiencies, and neurological abnormalities have been shown to be caused by defects in GAGs as well as core proteins of proteoglycans. Read More

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September 2021

Immunological Adverse Events After Autologous Hematopoietic Stem Cell Transplantation in Systemic Sclerosis Patients.

Front Immunol 2021 3;12:723349. Epub 2021 Sep 3.

Department of Internal Medicine II, University Hospital of Wuerzburg, Wuerzburg, Germany.

Autologous hematopoietic stem cell transplantation (aHSCT) represents an effective treatment for systemic sclerosis (SSc), but it also can cause immunological adverse events (iAEs). Therefore, we aimed to determine the frequency of iAEs [engraftment syndrome (ES) and secondary autoimmune disorder (sAD)] and to identify potential risk factors for their development in a retrospective analysis on 22 patients similarly transplanted due to SSc. While nine patients (41%) suffered from ESs, seven sADs occurred in six patients (27%). Read More

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September 2021