Undiagnosed skin lesions

We report a case of a man in his early 70s with a known history of prostate adenocarcinoma who presented with an undiagnosed skin lesion on his right lower lateral neck 6 years after his metastatic cancer diagnosis. The painless lesion was pink, lobulated and soft. The differential diagnosis included both primary and metastatic tumours. On resection, the histology and immunohistochemical profile of the lesion were consistent with metastatic prostate cancer. He has been managed with multiple lines of therapy since then due to progressive disease...

Self-induced trauma is a rare cause of panniculitis in adolescents and may be associated with undiagnosed underlying psychological conditions. The condition often poses a diagnostic challenge as patients usually present with non-specific signs and symptoms, and often a concealed history of self-induced trauma. Here, we present three adolescent patients with self-induced traumatic panniculitis. All three patients were repeatedly admitted with non-specific cutaneous lesions as well as multiple somatic complaints...

BACKGROUND AND AIMS: Acute hepatic porphyria (AHP) presents with nausea and vomiting and can mimic cyclic vomiting syndrome (CVS). The prevalence of AHP in CVS and overlap in clinical symptomatology is not known. We thus sought to determine the prevalence of pathogenic variants for AHP and characterize symptom overlap between CVS and AHP. METHODS: We conducted a cross-sectional study of 234 CVS patients using Rome criteria. Patients were eligible for AHP genetic testing if they had recurrent episodes of severe, diffuse abdominal pain with ≥ 2 of the following-peripheral nervous system (muscle weakness/aching, numbness, tingling), central nervous system (confusion, anxiety, seizures, hallucinations), autonomic nervous system (hyponatremia, tachycardia, hypertension, constipation) symptoms, red/brownish urine, or blistering skin lesions on sun-exposed areas...

Erythema induratum of Bazin is characterized by chronic, tender, erythematous, indurated subcutaneous nodules on the lower extremities caused by tuberculin hypersensitivity. A 21-year-old woman presented with recurrent episodes of multiple erythematous scaly lesions over both lower limbs below the knee and low-grade fever for 4 years. She was treated from various outside hospitals with multiple courses of antibiotics and nonsteroidal anti-inflammatory drugs without improvement. The histopathology of the skin lesion was suggestive of erythema induratum...

Human subcutaneous dirofilariasis caused by Dirofilaria repens is a vectorborne zoonotic disease mostly transmitted from dogs to humans through a mosquito's blood meal. Heartworms replication is amplified by the climate change, the increase of the range of suitable vectors, the facilitation of pet travel and the high rate of undiagnosed dirofilariasis in dogs. We describe a case of a young Romanian woman, resident in Rome for 18 years, that came to our attention for the appearance for five months of a subcutaneous nodule in the left arm...

This clinical case reports a rare disease-Birt-Hogg-Dubé Syndrome-characterized by skin lesions and multiple lung cysts. Because of its rarity, BHDS is likely undiagnosed and mistaken for primary spontaneous pneumothorax or emphysema. An early diagnosis is important to set up screening for renal cancer in patients and affected relatives.

BACKGROUND: Lenalidomid ranks among immunomodulatory drugs. There are a few of the more common side effects, like a higher risk of venous trombembolism or diarrhea. Other side effects are rare. The hyperbilirubinemia described in this article can be assigned to them. In our case, the increase of bilirubin was associated with unrecognized Gilbert syndrome. CASE DESCRIPTION: We report a patient with multiple myeloma and necrobio-tic xanthogranuloma (NXG) of the skin and liver...

Rashes and skin lesions are a common reason for patient visits to emergency departments and physicians' offices. The differential diagnosis includes a variety of infectious and non-infectious diseases, some of which can be life-threatening. The aim of this retrospective study was to evaluate the quantity and type of skin lesions among outpatients and inpatients at a tertiary care university-affiliated teaching hospital for infectious diseases over a three-year period to assess disease burden and physicians' experience in diagnosing skin lesions...

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune astrocytopathy against foot processes of aquaporin-4 (AQP4) water channels. Patients with NMOSD tend to have other coexisting autoimmune/connective tissue diseases. However, AQP-4-antibody-positive NMOSD coexisting with ankylosing spondylitis (AS) is rare. AS is an immune-mediated disorder, a subset of axial spondyloarthropathies, which commonly manifests as chronic inflammatory back pain in young people, and it has a strong association with HLA-B27...

Background: Mammography is a method widely used for the diagnosis of breast disorders in women and may help detect breast cancer in its early stages. Male breast cancer often remains undiagnosed or is poorly controlled until serious complications arise; therefore, the use of screening methods is needed to help with early diagnosis. Methods: From a total of 1,667 registered mammography cases screened, 17 male breast disease cases were included in this study. Mammography and ultrasound data were analyzed by Statistical Package of Social Sciences v...

The COVID-19 pandemic has changed many areas of life, including habits and trends in dermatological practice and dermatology patients' lifestyles. This article presents cases of patients infected with COVID-19, patients that developed lesions due to pandemic-related public health measures affecting the skin, and those that developed skin lesions after COVID-19 vaccination. One case concerned a female patient with widespread urticaria that had repeatedly gone to emergency rooms and had been administered corticosteroids and antihistamines for an undiagnosed COVID-19 infection that had been triggering her urticaria outbreaks...

BACKGROUND: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to prevent the onset of neurological complications but is difficult, particularly without a familial history. Cutaneous manifestations, which may precede VS or neurological tumours by several years, may contribute to an early diagnosis, but specific studies are lacking...

Nocardia is a genus of aerobic actinomycetes that are usually responsible for opportunistic infection in immunocompromised patients. Less frequently nocardiosis can interest immunocompetent population, causing especially primary cutaneous infections. Cutaneous involvement by Nocardia spp. may occur mostly as one of four clinical manifestations: superficial cellulitis or abscess, mycetoma, lymphocutaneous (also defined "sporotrichoid") infection and secondary cutaneous involvement from systemic disease. Infections usually present after minor local injury, especially in traumatic outdoor activities ( e...

Clinical diagnosis has become a challenge amidst a surge of cutaneous leishmaniasis in Southern Sri Lanka. The routine diagnostic method, slit-skin smear (SSS), has variable sensitivity, leading to undiagnosed cases. Improved diagnostics are urgently needed. We assessed a new in-house ELISA method for its diagnostic capabilities against ITS-1 nested PCR (gold standard-Gs). A cohort of 190 clinical CL cases was examined by SSS microscopy, anti-rKRP42 IgG ELISA (serum- and urine-based), and rK39-Immunochromatographic strip test...

BACKGROUND: Vitiligo, an autoimmune disorder characterised by skin depigmentation, is associated with reduced quality of life (QoL). Vitiligo may be under-reported, in part because of misconceptions that it is a cosmetic disease. OBJECTIVES: This survey sought to characterise vitiligo prevalence and explore the relationship between sociodemographic and clinical characteristics with QoL in a population-based, multinational study. METHODS: Participants aged ≥18 years were recruited via an online panel in Europe, Japan and the USA to answer questions regarding skin disorders they may have experienced...

The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthesis. All are associated with acute neurovisceral attacks, which are a consequence of the increased hepatic demand for haem triggered by hormones, stress, drugs or systemic infections which leads to upregulation of the pathway and overproduction of haem precursors 5-aminolaevulinic acid (ALA) and porphobilinogen (PBG)...

During the COVID-19 pandemic, teledermatology services were set up and enhanced to take care of those benign conditions like cutaneous warts (CWs) which, if undiagnosed or treated with delay, could have worsened, enlarged, and potentially spread to the community. The aim of this hybrid exploratory trial was to combine face-to-face clinical and dermoscopic evaluation with teledermatology follow-up in the management of CWs with a cryogenic pen based on nitrous oxide for home treatment. Twelve adult patients affected by CWs were enrolled...

Neuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in the 5'-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of adult-onset leukoencephalopathies. The present study aimed to investigate the prevalence, clinical spectrum and brain MRI characteristics of NIID in adult-onset nonvascular leukoencephalopathies and assess the diagnostic performance of neuroimaging features. One hundred and sixty-one unrelated Taiwanese patients with genetically undetermined nonvascular leukoencephalopathies were screened for the NOTCH2NLC GGC repeat expansions using fragment analysis, repeat-primed PCR, Southern blot analysis and/or nanopore sequencing with Cas9-mediated enrichment...

Introduction: A rapid spread of the emerging COVID-19 pandemic limited the availability of professional medical advice. As a result, a significant increase in the number of undiagnosed and chronically ill patients without medical care was noticed. In reaction to the urgent need, the telemedical consultation, instead of the classical form, may be introduced as a vulnerable tool in preclinical evaluation of patients with potentially malignant skin lesions. Aim: In this study the results of the implementation of telemedical consultation programme with the intention to early detect the skin cancers in patients who, due to the COVID-19 pandemic, could not undergo the standard consultation was presented...

Hymenoptera venom anaphylaxis is the most frequent cause of anaphylaxis and responsible for about 20% of all fatal anaphylaxis cases in adults. We report two cases of fatal hymenoptera venom anaphylaxis with undiagnosed underlying mastocytosis and review the risk factors for severe or fatal hymenoptera venom anaphylaxis, as well as the specificities of its association with mastocytosis. As hymenoptera venom allergic patients with underlying clonal mast cell disorder generally lack typical skin lesions of mastocytosis, its diagnosis can easily be missed, underscoring the importance and need for diagnostic strategies in order to correctly identify these patients...