Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.

Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier's sign. Recognition, particularly in infants, is challenging due to DCMs resemblance to other bullous skin disorders. Therefore, in unclear cases, a skin biopsy is crucial. Treatment focuses on symptom management, mainly including antihistamines and mast cell stabilizers. In extremely severe cases, systemic steroids, tyrosine kinase inhibitors, phototherapy, or omalizumab may be considered. Patients should be equipped with an adrenaline autoinjector. Herein, we conducted a comprehensive review of literature data on DCM since 1962, which could help to better understand both the management and prognosis of DCM, which depends on the severity of skin lesions, intensity of mediator-related symptoms, presence of anaphylaxis, and treatment response.

Intraductal papillary neoplasms of the bile ducts: a comparative study of a rare disease in Europe and Nagoya, Japan.

BACKGROUND: Intraductal papillary neoplasm of the bile ducts (IPNB) is a rare disease in Western countries. The aim of this study was to compare tumor characteristics, management strategies, and outcomes between Western and Eastern patients who underwent surgical resection for IPNB. METHODS: A multi-institutional retrospective series of patients with IPNB undergoing surgery between January 2010 and December 2020 was gathered under the auspices of the European-African Hepato-Pancreato-Biliary Association (E-AHPBA), and at Nagoya University Hospital, Japan. RESULTS: A total of 85 patients (51% male; median age 66 years) from 28 E-AHPBA centers were compared to 91 patients (64% male; median age 71 years) from Nagoya. Patients in Europe had more multiple lesions (23% vs 2%, P < .001), less invasive carcinoma (42% vs 85%, P < .001), and more intrahepatic tumors (52% vs 24%, P < .001) than in Nagoya. Patients in Europe experienced less 90-day grade >3 Clavien-Dindo complications (33% vs 68%, P < .001), but higher 90-day mortality rate (7.0% vs 0%, P = .03). R0 resections (81% vs 82%) were similar. Overall survival, excluding 90-day postoperative deaths, was similar in both regions. DISCUSSION: Despite performing more extensive resections, the low perioperative mortality rate observed in Nagoya was probably influenced by a combination of patient-, tumor-, and surgery-related factors.

Incontinentia pigmenti Stage 1 is not simply vesiculo-bullous but vesiculo-pustular.

Incontinentia pigmenti (IP) is a rare X-linked dominant, male-lethal disorder characterized by pathognomic skin lesions. As described in the literature the typical cutaneous changes follow the pattern of Blaschko's lines and develop in four stages that usually start at birth. Stage 1 is called vesicular, bullous or inflammatory. The vesicles are rapidly filled with eosinophils and thus turn into pustules. Thus, the term "pustular" is relevant to the first phase of IP, and the stage can be considered as "vesiculopustular/inflammatory" to be more precise than "vesicular" or "bullous."

Huge hypertrophic scar secondary to chronic ingrown toe nail mimicking tumor: A case report.

RATIONALE: A huge hypertrophic scar formation secondary to chronic ingrown toe nail mimicking tumor is a rare disease. It is not only causing concerns cosmetically, but also hindering normal daily activities physically and socially. In this paper, we present an unusual case of bilateral ingrown nails with different phases. One resulted in a large hypertrophic scar caused by stimulation from secondary to chronic ingrown nail. PATIENT CONCERNS AND DIAGNOSIS: A 44-year-old man with a huge mass (7 × 4 × 8.5 cm) in his right great toe and inflamed ingrown nail in his left great toe visited the clinic. The mass in the right toe showed an irregular and bizarre shape with a stellate ulcer (2 × 2 cm) at the distal end. After removing an ingrown nail 3 years ago with minor repetitive trauma, self-managed wound has grown into a tumor-like mass, resulting in intolerable discomfort. In gross appearance, a stalk appeared to originate from the lateral side of the nail bed with the ingrown nail in the great toe showing inflamed medial and lateral gutter and causing redness and tenderness. Huge hypertrophic scar formation secondary to chronic ingrown toe nail mimicking tumor is a rare disease that is not only causing a cosmetic concern, but also hindering normal daily activities physically and socially. INTERVENTION AND OUTCOMES: Excisional biopsy was performed for both great toes. Biopsy confirmed chronic ulcerative inflammation with a hypertrophic scar. The resection site healed and persisted well at 12 months after surgery. CONCLUSION: Our unusual case suggests that the natural course of an untreated ingrown toe nail may result in hypertrophic scar extending far to mimic tumorous conditions.

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

BACKGROUND: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition. CASE REPORTS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected. CONCLUSIONS: Our findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.

Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report.

A 19-year-old woman with known maple syrup urine disease presented to hospital with metabolic crisis in the setting of influenza type A infection and intractable vomiting, rapidly progressing to acute cerebral oedema manifesting as refractory seizures and decreased level of consciousness needing emergency intubation and mechanical ventilation, continuous veno-venous haemodiafiltration and thiopentone coma. A computed tomography scan and magnetic resonance imaging of the brain demonstrated classic signs of cerebral oedema secondary to a metabolic crisis from the metabolic disorder. Her management posed multiple challenges to all teams involved due to lack of familiarity and experience in managing this clinical scenario in the adult intensive care setting.

Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.

Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms impacting the skin, eyes, and cardiovascular system, along with an elevated risk of cardiovascular diseases. We present a case of a 34-year-old male patient who was initially referred to the rheumatology clinic for evaluation due to suspected large vessel vasculitis. The patient's primary complaint was severe hemifacial pain radiating to the neck and upper limb. Radiological imaging studies unveiled substantial vascular narrowing and collateral vessel formation, prompting further investigation to exclude systemic vasculitis. Intriguingly, the patient also exhibited cutaneous manifestations, which were later confirmed via skin biopsy as consistent with PXE. An ophthalmological examination further revealed the presence of the classic PXE findings of angioid streaks. Given the rarity of PXE and its multifaceted clinical presentation, it can be particularly challenging to diagnose and manage. As such, cases like the one presented here may necessitate a referral to a rheumatologist for evaluation of potential systemic involvement. To provide a comprehensive perspective on PXE, we conducted a systematic review of case reports published in the past decade in English, collected from PubMed, Scopus, and the Directory of Open Access databases. The analysis of these cases will be discussed to shed light on the diversity of PXE's clinical features and the diagnostic and management dilemmas it poses and to facilitate ongoing exploration and research into this intricate condition, ultimately leading to improved care for individuals affected by PXE.

[Melanosis of the bladder-a rare diagnosis]. / Melanose der Harnblase ­ eine Rarität.

Melanosis of the urinary bladder is an extremely rare benign condition in which melanin deposits occur in the urothelial and stromal cells. We report such a case in which melanosis of the urinary bladder was detected in a 55-year-old woman with known multiple sclerosis during an extended workup due to urinary urgency complaints. The findings were confirmed by biopsy.

Congenital erosive and vesicular dermatosis healing with reticulated and supple scarring: Two cases secondary to fungal infection.

Congenital erosive and vesicular dermatosis (CEVD) is a rare skin condition that most commonly presents as erosive and vesicular lesions on the trunk and extremities in premature infants and heals with characteristic reticulated and supple scarring (RSS). The exact pathogenesis of CEVD is unknown and is typically a diagnosis of exclusion. We present the cases of two extremely premature neonates with Candida septicemia who were found to have diffuse, erythematous skin eruptions shortly after birth that ultimately healed with RSS. Through these cases, we highlight the importance of including fungal infection in the work-up of CEVD healing with RSS.

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

Photoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present the largest genome-wide association study of PRC morphology to date utilising quantitative phenotypes extracted from OCT images within the UK Biobank. We discovered 111 loci associated with the thickness of one or more of the PRC layers, many of which had prior associations to ocular phenotypes and pathologies, and 27 with no prior associations. We further identified 10 genes associated with PRC thickness through gene burden testing using exome data. In both cases there was a significant enrichment for genes involved in rare eye pathologies, in particular retinitis pigmentosa. There was evidence for an interaction effect between common genetic variants, VSX2 involved in eye development and PRPH2 known to be involved in retinal dystrophies. We further identified a number of genetic variants with a differential effect across the macular spatial field. Our results suggest a continuum between common and rare variation which impacts retinal structure, sometimes leading to disease.

A Case of Intramural Gastric Wall Abscess, a Rare Disease Successfully Treated with Endoscopic Incision and Drainage.

Gastric wall abscess is a rare condition characterized by a purulent inflammatory process resulting in the formation of a pocket of pus in the stomach. As the mucosa is usually intact, it requires various tools such as endoscopic ultrasonography or computed tomography for the differential diagnosis to rule out more common subepithelial tumors. Even after the diagnosis, the treatment for gastric wall abscess was previously restricted to surgical resection in combination with antibiotics. Currently, in order to avoid unnecessary surgery, the alternative method of initial treatment with an endoscopic approach is recommended. It also helps to choose appropriate antibiotics with confirmation of the pathogen by drainage. There are few reports that describe the detailed processing of the endoscopic drainage, and there is no consensus on the treatment. The pathogens that cause gastric wall abscess are usually Streptococci, Staphylococci, and Escherichia coli. There is only one case reported to be caused by Candida albicans. This is the first report of Elizabethkingia anopheles as the pathogen of the gastric wall abscess. Here, we report a case of gastric wall abscess in a 75-year-old man, safely treated by endoscopic drainage and antibiotics, confirmed by isolating the contents of the abscess.

Degos disease in a child presenting with acute renal failure.

Degos disease, also termed malignant atrophic papulosis, is a rare systemic vaso-occlusive disorder, seldom reported in the pediatric population. The pathognomonic skin lesion in Degos disease is a papule with an atrophic porcelain-white center with an erythematous, telangiectatic rim. The benign form of the disease remains limited to the skin, whereas, in others, it progresses to thrombotic vasculopathy in multiple organs including the gastrointestinal, cardiorespiratory, and central nervous systems, with a high mortality rate. We present a rare case of Degos disease in an adolescent female, presenting as acute renal failure secondary to thrombotic vasculopathy, with the characteristic skin lesion distinctively seen on dermoscopy.

A Rare Kimura's Disease in the Oral Cavity with Severe Sleep Apnea: Case Report and Literature Review.

Kimura's disease (KD) is a rare chronic inflammatory disorder that commonly occurs in Asian males. It mainly presents as painless subcutaneous masses or lymphadenopathy in the head and neck region. The incidence of KD in the oral cavity is quite rare. We reported a rare case of a 53-year-old male who had KD in his soft palate, hard palate and bilateral tonsils associated with severe sleep apnea. This patient underwent radiotherapy and exhibited a good response to the treatment. Throughout the 12-month follow-up period, the patient's condition remained satisfactory. Of the other 14 reviewed cases of KD in the oral cavity, the lesions can occur in the buccal mucosa, hard and soft palate, and mouth floor with specific clinical features. We further summarized their manifestations and treatments in order to guide the future identification and management of KD with lesions in the oral cavity.

Pancreaticoduodenal and choledochal hemangiomatosis with vascular variation in a child: a rare disease with challenge starts from diagnosis-a case report.

BACKGROUND: Visceral hemangiomatosis is a benign tumor (rarer than hemangioma) that has not been reported to occur in the pancreas, duodenum, or choledoch. It can be easily confused with other pancreatic tumors or choledocholithiasis. Herein, we describe a case of a child with pancreaticoduodenal and choledochal hemangiomatosis and the key characteristics for the accurate diagnosis of pancreatic tumors based on previous reports and our findings. CASE PRESENTATION: We report a case of a 2-year and 9-month-old child who presented with repeated and fluctuating jaundice for 3 months with a history of endoscopic stone removal in a local hospital, following the diagnosis of choledocholithiasis. An abdominal computed tomography revealed a previously undiagnosed pancreatic head tumor and celio-mesenteric trunk (a rare vascular variation). This was misdiagnosed as a pancreatic neuroendocrine tumor. Since the patient's parents refused FNA biopsy and insisted on surgery, pancreaticoduodenectomy was performed; however, postoperatively, the child was correctly diagnosed with pancreaticoduodenal and choledochal hemangiomatosis. Although the patient was in good condition and had gained 4 kg in weight 3 months postoperatively, pancreaticoduodenectomy could have been avoided if an accurate diagnosis had been established before or during the operation. CONCLUSION: Our report highlights the difficulty in diagnosing visceral hemangiomatosis. Radiologists, endoscopists, and surgeons should consider this possibility in cases of repeated and fluctuating jaundice that cannot be explained by choledocholithiasis alone.

Bladder Cancer Patient-derived Organoids and Avatars for Personalized Cancer Discovery.

Prediction of treatment response has attracted growing attention in cancer research to improve clinical outcomes via individualized treatment regimens. Patient-derived organoids and xenografts are novel preclinical model systems that recapitulate the genetic and phenotypic features of parental tumors for this purpose. Organoid culture has been successfully established in multiple cancers and used for assessment of drug and immunotherapy responses. Patient-derived xenograft (PDX) models provide insights into in vivo tumor growth and metastatic potential. Continued improvements in these model systems to better maintain tumor architecture and microenvironment will advance patient-specific targeted therapies. PATIENT SUMMARY: This mini review describes up-to-date organoid and xenograft models of bladder cancer created using patient-derived tissue. These models are important for research and may provide information on mutations and expression patterns for cancer-related genes that are unique to each patient, and could facilitate personalized therapy for individual patients.

Paroxysmal Finger Hematoma-A Probable Vascular Disorder in Post-COVID-19 Condition: Two Clinical Case Presentations.

Background and Objectives: Achenbach's syndrome is usually a benign, self-limiting clinical condition presented with finger discoloration, pain, and edema. Etiology, pathogenesis, and incidence remain unknown due to the variety of clinical features and the diversity of disease states leading to digital ischemia. COVID-19 primarily affects microcirculation, causing endothelial damage and disseminated microthrombosis. Materials and Methods: We reviewed two cases of Caucasian women with Achenbach's syndrome after COVID-19 infection recovery between April and May 2021. Results: Here are presented two extremely rare cases of paroxysmal finger hematoma in two female patients after COVID-19 infection recovery. Conclusions: The exact etiology and pathophysiology of Achenbach's syndrome remain unclear. It is assumed that SARS-CoV-2 infection could be the triggering factor in the pathophysiological mechanism of paroxysmal finger hematoma. We highly recommend the implication of the synthetic prostacyclin receptor agonist (Iloprost) as a first-line conservative treatment in patients with Achenbach's syndrome and COVID-19 infection recovery.

Mini-Review on the Harlequin Syndrome-A Rare Dysautonomic Manifestation Requiring Attention.

Harlequin syndrome (HS) is a rare autonomic disorder. The causes and risk factors of the disease are not fully understood. Some cases of HS are associated with traumatic injuries, tumors, or vascular impairments of the head. Symptoms of HS can also occur in some autoimmune disorders, ophthalmic disorders, sleep disorders, and with certain organic lesions. In this context, a thorough review of the pathophysiology of HS in relation to neurological, ophthalmological, and dermatological conditions is necessary. In this mini-review, we aim to review the pathophysiological changes and underlying mechanisms in primary and secondary HS. Additionally, we discuss possible management approaches for patients with HS in light of the discussed pathological mechanisms. The main symptoms of HS that are correlated with autonomic nervous system impairments include sudden unilateral flushing of the face, neck, chest, and rarely arm, with concurrent contralateral anhidrosis. Despite reported co-occurring syndromes (such as cluster headaches), several studies have shown that HS could frequently overlap with other syndromes that are disruptive to the idiopathic nerve pathways. HS usually does not require any medical treatment. In some severe cases, symptomatic treatments could be needed. However, total symptomatic relief may not be achieved in many cases of HS. We therefore suggest an approach to comprehensive management of HS, which may lead to better long-term control of HS.

Parapelvic Cysts: An Imaging Marker of Kidney Disease Potentially Leading to the Diagnosis of Treatable Rare Genetic Disorders? A Narrative Review of the Literature.

Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the renal sinus, characterized by being generally single, larger, and incompletely surrounded by renal parenchyma. Noteworthy, parapelvic cysts are a rare and understudied condition which, although considered clinically insignificant due to the absence of influence on renal function, still have a controversial aetiopathogenesis. On the other hand, urological management and differential diagnosis have been thoroughly investigated. The aim of our review is to provide an overall vision on this rare condition, usually misdiagnosed and underestimated, on the basis of more recent data. An accurate differential diagnosis of parapelvic cysts can lead to the identification of treatable conditions such as Fabry disease, autosomal dominant polycystic kidney disease, polycystic liver disease and tuberous sclerosis complex disease.

Anal Cancer: Emerging Standards in a Rare Disease.

The social stigma surrounding an anal cancer diagnosis has traditionally prevented open discussions about this disease. However, as recent treatment options and an increasing rate of diagnoses are made worldwide, awareness is growing. In the United States alone, 9,090 individuals were expected to be diagnosed with anal cancer in 2021. The US annual incidence of squamous cell carcinoma of the anus continues to increase by 2.7% yearly, whereas the mortality rate increases by 3.1%. The main risk factor for anal cancer is a human papillomavirus infection; those with chronic immunosuppression are also at risk. Patients with HIV are 19 times more likely to develop anal cancer compared with the general population. In this review, we have provided an overview of the carcinoma of the anal canal, the role of screening, advancements in radiation therapy, and current trials investigating acute and chronic treatment-related toxicities. This article is a comprehensive approach to presenting the existing data in an effort to encourage continuous international interest in anal cancer.

Surgical resection for esophageal adenosquamous carcinoma: an analysis of 56 cases.

BACKGROUND: Esophageal adenosquamous carcinoma (EASC) is a rare disease. The biological behavior and treatment of this malignancy are not well studied. METHODS: Data from 56 patients with EASC who underwent esophagectomy were retrospectively analyzed and compared with 5028 patients with esophageal squamous cell carcinoma (ESCC). The impact of clinicopathological factors on the survival of patients with EASC was analyzed. The survival differences between patients with EASC and ESCC were also compared. RESULTS: There were 43 males and 13 females with a mean age of 59.7 ± 1.3 years (range, 39-79 years). Only 1 of the 43 patients who received preoperative esophagoscopic biopsy was diagnosed with EASC. The median survival time for patients with EASC was 32.0 months, and the 1-, 3-, and 5-year overall survival rates were 78.3%, 46.1%, and 29.6%, respectively. Resection margin, pN category, and adjuvant chemotherapy were found to be independent predictors. After 1:1 propensity score matching, the 5-year overall survival rate of 29.6% for patients with EASC was similar to that of 42.5% for patients with ESCC (P = 0.179). CONCLUSIONS: EASC is a rare disease and is easily misdiagnosed by esophagoscopic biopsy. The prognosis of EASC was similar to that of ESCC. Postoperative adjuvant chemotherapy may improve the survival of patients with EASC after esophagectomy.