Cutaneous Involvement Research Articles

CLINICO-EPIDEMIOLOGICAL STUDY OF ORAL MUCOSAL LESIONS IN PATIENTS ATTENDING OUT-PATIENT DEPARTMENT IN A TERTIARY CARE HOSPITAL: A CROSS-SECTIONAL STUDY

Background:- Oral mucosal signs can depict any systemic disease in a patient. The pattern of the disease presentation in the mouth gets modified due to complex and changing environment. The Oral mucosal lesion may be the initial manifestation or the most florid clinical feature. It may occur with or without cutaneous involvement. : Aims & Objectives To determine the clinico-epidemiological pattern of oral mucosal lesions in patients with dermatological diseases and to estimate the incidence of oral mucosal lesions in patients with dermatologic diseases. This Materials & Method: observational cross-sectional study was conducted in the Department of Dermatology, Venereology, and Leprology at S.M.G.S Hospital. All patients having oral mucosal lesions with or without cutaneous lesions were included in this study. A predesigned proforma was used to record the patient's relevant history and clinical findings. The data were tabulated and subjected to statistical analysis. The incidence of oral mucosal lesions in patients with dermat Results: ologic diseases was reported to be 0.05%. There were 55% females and 45% males. The most common age group involved was 21-40 years. Pemphigus vulgaris was found to be the most common oral mucosal lesion reported in 17.1% of participants, followed by lichen planus observed in 12.9% of participants. Oral cavity examination sh Conclusion: ould not be overlooked as it can provide help in the early diagnosis of certain dermatological disorders/systemic diseases.

A challenging case of cutaneous sarcoidosis with unusual findings in a Syrian woman: a case report and review of literature

Sarcoidosis is a granulomatous disease that involves multiple systems. Cutaneous involvement can manifest in patients with sarcoidosis and can present with or without systemic involvement. We present a case of cutaneous sarcoidosis in a Syrian woman that showed improvement after a combination of methotrexate and prednisolone therapy. The patient had unusual chest radiography findings and developed an unexplained fissured tongue after 5 days of receiving methotrexate therapy. In addition, the patient developed indurated erythematous plaque and papules on her upper right arm at the same location as a performed biopsy, which increased the diagnosis of a newly formed scar sarcoidosis although she was receiving her treatment.

Isolated medial antebrachial cutaneous nerve injury after blunt trauma: a case report

BackgroundThe medial antebrachial cutaneous nerve is a branch of the brachial plexus that contains C8–T1 segments. Injury of this nerve by various mechanisms has been reported in the literature; however, currently, there is no reported case of medial antebrachial cutaneous nerve injury in the setting of acute blunt trauma.Case presentationThis case report presents the case of a 34-year-old Persian female with dysesthesia and pain in the medial side of the forearm immediately following a blunt trauma by mechanism of elbow external rotation. On electrodiagnostic evaluation, the medial antebrachial cutaneous nerve sensory nerve action potential of the symptomatic side had a significant amplitude drop (more than 50%), compared with the other side. On follow-up electrodiagnosis, after several sessions of physical therapy, the medial antebrachial cutaneous nerve sensory nerve action potential still had a significant amplitude difference.ConclusionBlunt trauma can be one of the causes of medial antebrachial cutaneous nerve involvement. An electrodiagnostic study can be helpful in the diagnosis of this nerve injury after blunt trauma.

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disease with frequent cutaneous manifestations. We conducted a retrospective study of all patients with genetically confirmed VEXAS syndrome seen at our institution. Available clinical photographs and skin biopsy slides were reviewed. Cutaneous manifestations developed in 22/25 (88%) patients with VEXAS syndrome. From this group, 10/22 (45%) developed skin involvement before or at the time of other clinical features of VEXAS. Twenty distinct dermatologic presentations of VEXAS from 14 patients were reviewed, and histopathologic patterns were classified as follows: neutrophilic urticarial dermatosis (n=5, 25%), leukocytoclastic/urticarial vasculitis (n=4, 20%), urticarial tissue reaction (n=4, 20%), neutrophilic dermatosis (n=3, 15%), neutrophilic panniculitis (n=2, 10%), and nonspecific chronic septal panniculitis (n=2, 10%). Common systemic findings included macrocytic anemia (96%), fever (88%), thrombocytopenia (76%), weight loss (76%), ocular inflammation (64%), pulmonary infiltrates (56%), deep venous thrombosis or pulmonary embolism (52%), and inflammatory arthritis (52%). Cutaneous involvement is a common feature of VEXAS syndrome, and histopathologic findings exist on a spectrum of neutrophilic inflammatory dermatoses.

A case report of a blueberry muffin baby caused by congenital self-healing indeterminate cell histiocytosis

BackgroundBlueberry muffin is a descriptive term for a neonate with multiple purpuric skin lesions. Many causes are known, amongst them life-threatening diseases like congenital infections or leukemia. Indeterminate cell histiocytosis (ICH) is an exceptionally rare cause of blueberry muffin rash. ICH is a histiocytic disorder which can be limited to the skin or can present with systemic involvement. A mutation that has been described in histiocytic disorders is a MAP2K1 mutation. In ICH, this mutation has previously been described in merely one case.Case presentationA term male neonate was admitted to the neonatology ward directly after birth because of a blueberry muffin rash. ICH was diagnosed on skin biopsy. The lesions resolved spontaneously. The patient is currently 3 years old and has had no cutaneous lesions or systemic involvement so far. This disease course is similar to that of the Hashimoto-Pritzker variant of LCH.ConclusionsICH can manifest in neonates as resolving skin lesions. It is limited to the skin in most cases, but systemic development is possible. Therefore, it is essential to confirm the diagnosis with a biopsy before the lesions resolve and to monitor these patients closely with routine follow-up.

Dermoscopy of genodermatoses

Genodermatoses are agroup of inherited skin diseases whose diagnosis is challenging due to their rarity as well as their clinical and genetic diversity. The majority of genodermatoses are autosomal or X‑linked inherited, but mosaic forms are also observed. Genodermatoses comprise various phenotypes ranging from limited cutaneous disease to severe cutaneous and extracutaneous involvement and may also be early warning signs of amultisystemic disorder. Despite recent advances in genetic technology and skin imaging modalities, dermoscopy can be useful for screening, diagnosis, and treatment follow-up. In ectopic mineralization and lysosomal storage disorders (pseudoxanthoma elasticum and Fabry disease, respectively), cutaneous manifestations may indicate involvement of other organs. In keratinization diseases (e.g., ichthyoses) and acantholytic skin fragility disorders (e.g., Darier and Hailey-Hailey disease), dermoscopy may help to assess treatment response by visualizing background erythema, hyperkeratosis, and interkeratinocyte space prominence. Dermoscopy is anoninvasive, easily accessible, useful, invivo assessment tool that is well established in dermatology to recognize characteristic features of genodermatoses.

Implantation Mycoses and Invasive Fungal Infections with Cutaneous Involvement in Tropical Taiwan: An 11-Year Retrospective Study of a Medical Center

The rising incidence of implantation mycoses and invasive fungal infections prompts the need for studies describing the latest trends of these diseases; however, the literature remains scarce from tropical Asia in recent years. We shared our 11-year clinical experience at a tertiary center in Southern Taiwan to improve physicians' understanding of the diseases, which could help them assume appropriate management strategies. Forty cases of pathology-proven cases of implantation mycoses and invasive fungal infections with cutaneous involvement were retrospectively reviewed. The epidemiology, patients' characteristics, initial clinical impressions, fungal species, management, and outcomes were compared and reported. Fonsecaea sp. was the most commonly (14%) involved species in implantation mycoses. The percentages of immunocompromised patients with implantation mycoses and invasive fungal infections were 26% and 60%, respectively. Additionally, 46% of patients with implantation mycoses had type 2 diabetes mellitus. The lesions were commonly mistaken for skin appendage tumors, skin cancers, and hyperkeratotic dermatoses. The prognosis was favorable for the implantation mycoses (83% showed clinical improvement) but bleak for the invasive fungal infections (100% mortality). Presentations of implantation mycoses and invasive fungal infections vary widely, and immunocompromised status and diabetes mellitus are important associated factors.

Cutaneous Rhinosporidiosis Masquerading as a Soft Tissue Tumour Diagnosed on FNAC

Background: Rhinosporidiosis refers to a granulomatous inflammation of mucocutaneous sites caused by Rhinosporidium Seeberi, presenting most frequently as polypoidal lesions in the nose and nasal cavity. Involvement of sites like the conjunctiva, trachea, nasopharynx, skin, and genitourinary tract are rare. Cases of nasal rhinosporidiosis with satellite skin nodules around head and neck region has been reported. Primary cutaneous involvement is however extremely rare [1]. We report the case of a 58 year old male who came with complaints of anterior chest wall swelling since 2 months with sudden increase in size. The patient was sent for FNAC with a clinical diagnosis of a soft tissue tumor. FNAC however revealed sporangia of varying sizes with endospores along with foreign body giant cell reaction. Histopathological examination confirmed the diagnosis. Cutaneous rhinosporidiosis may mimic a soft tissue tumor. FNAC being a minimally invasive and less expensive procedure gave a definitive diagnosis, and also aided to initiate prompt management of the condition.

Secondary cutaneous aspergillosis in a child with Behçet’s disease: a case-based update

BackgroundInvasive aspergillosis (IA) is one of the rarest opportunistic fungal infections and has increased in frequency worldwide in recent years. It is a life-threatening infection associated with high mortality rates. Invasive pulmonary aspergillosis (IPA) is the most severe form of the disease. Extrapulmonary forms can develop as a primary infection or occur as part of a disseminated infection from the lung in severely immunocompromised patients. The major limitation in the management of these infections is the challenge of early diagnosis.Case presentationHere we report a case of secondary cutaneous aspergillosis that developed from extensive pulmonary aspergillosis in a 3-year-old female who underwent immunosuppressive therapy for a diagnosed Behçet disease (BD). Aspergillus hyphae were identified on skin biopsies. Cultures grew Aspergillus fumigatus. The diagnosis of cutaneous aspergillosis enabled us to diagnose IPA, although there was no mycopathological proof of lung infection. The patient was successfully treated with voriconazole (8 mg/kg/day) and surgical debridement of the skin lesion.ConclusionsAlthough cutaneous involvement in aspergillosis is extremely uncommon, it may be the presenting feature in some cases, allowing for an accurate and timely diagnosis of deeply infected sites. Accordingly, when evaluating skin lesions in immunocompromised individuals, especially debilitated children with underlying diseases requiring long-term immunosuppressive agents, cutaneous aspergillosis should be vigilantly considered.

JAK inhibition for CD3− CD4+ lymphocytic-variant hypereosinophilic syndrome

Alternatives are urgently needed in patients with CD3− CD4+ lymphocytic-variant hypereosinophilic syndrome (L-HES) requiring high-level steroids or who are unresponsive and/or intolerant to conventional alternative therapies. We report five L-HES patients (44–66 years) with cutaneous involvement (n = 5) and persistent eosinophilia (n = 3) despite conventional therapies, who successfully received JAK inhibitors (tofacitinib n = 1, ruxolitinib n = 4). JAKi led to complete clinical remission in the first 3 months in all (with prednisone withdrawal in four). Absolute eosinophil counts normalized in cases receiving ruxolitinib, while reduction was partial under tofacitinib. After switch from tofacitinib to ruxolitinib, complete clinical response persisted despite prednisone withdrawal. The clone size remained stable in all patients. After 3–13 months of follow-up, no adverse event was reported. Prospective clinical trials are warranted to examine the use of JAKi in L-HES.

Review: Emergomycosis.

Purpose of Review In this review, we provide an overview of emergomycosis from a clinical perspective and discuss the taxonomy and classification of the pathogens, epidemiology, pathophysiology of infection and mechanisms of pathogenesis, immunology, clinical manifestations, laboratory culture and diagnosis, molecular characterisation, therapy and prognosis. Recent Findings While Emergomyces pasteurianus is the most geographically-widespread species, Emergomyces africanus is endemic to Southern Africa and causes disseminated disease with cutaneous involvement primarily among patients with advanced human immunodeficiency virus (HIV) disease. Summary Emergomycosis, a disseminated clinical disease resulting from infection with dimorphic fungi in the genus Emergomyces, occurs primarily among immunocompromised patients. Further knowledge is needed on the pathophysiology, diagnosis and management of emergomycosis.

Anaphylaxis – A must know for all

Anaphylaxis is a severe, acute, and potentially fatal multi-organ reaction caused by exposure to an allergen. The most involved organ systems are skin, pulmonary, cardiovascular, and gastrointestinal systems, with cutaneous system involvement witnessed in up to 90% of cases. Three commonest reported triggers are food, medicine, and insect venom. It is characterized clinically by wheals and/or angioedema in association with dyspnea, tachypnea, wheezing, tachycardia, vomiting , abdominal pain, diarrhea, clammy skin, confusion, and anxiety. According to the available data, the likelihood of experiencing an episode of anaphylaxis during a lifetime can be expected in up to 2% of population. The incidence of anaphylaxis has been increasing because of the globalization, which has resulted in increased migration of inherent population to distant areas of the world, wider distribution of food and medicines. Furthermore, because of the climate change brought about by industrialization and automation, there has been a noticeable change in the local insect species. People manifesting with any of the three clinical presentations of atopic diathesis (namely, asthma, eczema, and allergic rhinitis) generally have higher chances of experiencing anaphylaxis, and the three most common incriminating triggers include food item, latex rubber, and radio contrast agents. Depending on the patho-physiological mechanism involved, anaphylaxis can be either immunologic, non-immunologic, or idiopathic. The diagnosis of anaphylaxis can largely be made based purely on the presenting sign and symptoms. However, in some rare cases, when it is not possible to make the diagnosis clinically, laboratory investigations are used to supplement or to exclude a specific entity. The standard protocol for managing a case of anaphylaxis includes removal of the trigger, initiation of epinephrine therapy at an earliest, appropriate positioning of the patient to maintain free airway, and hemodynamic balance and call for help for multidisciplinary approach. It is often misdiagnosed owning to the markedly varying clinical presentations, and absence of specific diagnostic laboratory test. Thus, in the present review we have given a comprehensive update to freshen up the knowledge of the physician, to enable them to easily diagnose and manage a suspected case of anaphylaxis, to avoid potential complications and fatalities, and even prevent repeated attacks in some of the cases.

Weekly paclitaxel treatment in the first-line therapy of classic Kaposi sarcoma: A real-life study.

Kaposi sarcoma is an angioproliferative disease associated with human herpes virus 8 infection. Classic Kaposi sarcoma (CKS) usually develops in older age. Although CKS often does not require systemic therapy, systemic therapy can be administered in progressively symptomatic patients. In this real-life study, we purposed to determine effectiveness and safety of weekly paclitaxel therapy in the first-line treatment of CKS. In this cross-sectional retrospective study, we analyzed the clinical data of 44 patients with CKS who received first-line paclitaxel therapy between January 2000 and December 2020. Paclitaxel was administered by intravenous infusion 80 to 100 mg/weekly. The median age of the patients was 67 years (range, 39-86 years), and majority male (77.2%). All patients had cutaneous involvement in extremities. The median follow-up time from paclitaxel treatment was 39.1 (range, 3.7-173.5) months. The median progression free survival from start of therapy was 35.1 months (range, 2-144 months). Complete response, partial response and stable disease were observed in 7 (15.9%), 28 (63.7%) and 6 (13.6) patients, respectively. Objective control rate was 79.6%, and the median response time after the last dose of paclitaxel was 18.2 months. A total of 4 patients (9.1%) had grade 3 to 4 neutropenia, but it was not complicated by febrile neutropenia. Three patients (6.8%) experienced grade 3 to 4 peripheral neuropathy. No patient had grade 3 to 4 allergic reaction. There was no drug-related death. According to our results, paclitaxel is an effective therapy option with an acceptable safety profile for patients with advanced CKS.

Drug reaction with eosinophilia and systemic symptoms (DRESS): an unusual manifestation of multi-visceral abnormalities and long-term outcome.

Drug reaction with eosinophilia and systemic symptoms (DRESS), also known as drug induced hypersensitivity (DiHS) is a rare, however a severe hypersensitivity reaction with a mortality rate of up to 10%, accounting for 10 to 20% of all cutaneous drug reactions in hospitalized patients. The clinical features of DRESS/DiHS may be challenging to recognize and diagnose, since they are delayed, stepwise, and heterogeneous. The classic presentation of DRRSS/DiHS involves a combination of cutaneous, hematologic, and internal organ involvement with a 2 to 8 weeks latency between drug exposure and the onset of symptoms. Finding the culprit drug in our case was difficult as the patient was taking multiple antibiotics. Drugs such as vancomycin and cefepime used before the rash outbreak for post-reconstructive surgery for left toal knee arthroplasty (TKA) approximately four weeks before the onset of the rash are likely offending agents. This patient also had multi-visceral involvement with eosinophilia and systemic symptoms. The current treatment guidelines for DRESS/DiHS are primarily based on expert opinion, as no randomized control trials exist. After the prompt withdrawal of the offending drug, systemic corticosteroids seem to have shown the best outcome for patients. Delaying discontinuing offending medications and initiating corticosteroid treatment may lead to poor results. The present case emphasizes that the close observation of patients with drug eruption induced by antibiotics is imperative. Primary care team should be able to promptly diagnose patients with DRESS syndrome, detect causative drug, and play a crucial role in the timely evaluation and treatment to reduce mortality rate. The later phase disease relapse or autoimmune complications may occur up to 5 years following the initial presentation. Therefore, we advised the patient to have an outpatient follow up for appropriate testing, including but not limited to genetic susceptibility due to the high risk of relapse and emerging risk of autoimmune diseases.

Epidemiology and Survival of Systemic Sclerosis-Sarcoidosis Overlap Syndrome.

We evaluated the epidemiology, manifestations, serology, comorbidities, and survival among patients with systemic sclerosis (SSc) with and without sarcoidosis. We conducted a retrospective cohort study comparing patients with SSc with and without sarcoidosis. All patients fulfilled the American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria for SSc. Sarcoidosis was based on physician diagnosis and/or confirmatory biopsy. The primary outcome was time from diagnosis to all-cause mortality. Survival was evaluated using Kaplan-Meier curves. We included 1977 patients (1971 with SSc, 6 with SSc-sarcoidosis) with a SSc-sarcoidosis prevalence of 0.30%. Sarcoidosis frequently preceded SSc (66.66%). The most frequent sarcoidosis manifestations were pulmonary (66.66%), lymphadenopathy (66.66%), arthritis (50%), cutaneous (33.33%), and hepatic (16.66%). Patients with SSc and SSc-sarcoidosis had female to male sex ratios of 4.5:1 vs 5:1 and median ages of SSc onset of 48.3 vs 43.8 years, respectively. Interstitial lung disease (35% vs 66.66%) and pulmonary hypertension (24.91% vs 50%) tended to occur more frequently whereas abnormal nailfold capillaries (34.7% vs 16.66%) and digital ulcers (33.33% vs 16.66%) tended to occur less frequently among patients with SSc-sarcoidosis, but the differences were not significant. There was an increased frequency of stroke among the patients with SSc-sarcoidosis (relative risk 8.59, 95% CI 1.02-72.00). The median survival times were 23.4 years for SSc-sarcoidosis and 18.6 years for SSc, with no differences in survival curves (log-rank test, P = 0.55). Sarcoidosis in SSc is rare but appears to occur more frequently than in the general population. It is associated with pulmonary, lymph node, cutaneous, joint, and hepatic involvement. Stroke occurs more frequently in patients with SSc-sarcoidosis but with no differences in survival.

Detection of anti-eIF2B autoantibodies in systemic sclerosis by immunoprecipitation-mass spectrometry.

Dear Editor, Anti-eukaryotic initiation factor 2B (eIF2B) autoantibodies are a recently described autoantibody specificity in SSc associated with diffuse cutaneous involvement, interstitial lung disease (ILD) and a cytoplasmic pattern on HEp-2 indirect immunofluorescence (HEp-2 IIF) [1–3]. Hitherto only 19 patients have been identified, all by radiolabelled protein immunoprecipitation [1–3]. Here we describe immunoprecipitation-mass spectrometry (IP-MS) as a detection method for anti-eIF2B autoantibodies and further characterize the precipitation pattern of the eIF2B complex as precipitated by various anti-eIF2B sera. We also further document the clinical associations of anti-eIF2B autoantibodies. The study was approved by the following Ethical Committees: University Hospitals Leuven (S60347/B32220071204) (Leuven) and Hospices civils de Lyon, Lyon (CT 69HCL21_0501) (Lyon). This was a retrospective study using left-over material of samples submitted to the clinical laboratory (secondary use) for which an informed consent waiver was authorized by the Ethical Committee of the University Hospitals Leuven, Belgium, and Hospices civils de Lyon, France. Patients were notified of the content and aim of the study. The patient data have been anonymized.

Widespread and Long-Enduring Hyperkeratosis Lenticularis Perstans (Flegel’s Disease): Clinico-Pathological and Dermoscopic Features of a Rare Presentation

Hyperkeratosis lenticularis perstans, also known as Flegel's disease (FD), is a rare cutaneous disorder affecting mainly the lower extremities of middle-aged people. Due to its rarity, this disease is usually not recognized by physicians resulting in a delay in diagnosis, especially in those cases with atypical cutaneous involvement. Herein, we present a 72-year-old woman who developed FD characterized by a generalized distribution, involving, in addition to the lower limbs, the trunk and the upper limbs as well. We performed a description of the dermoscopic and pathologic features of this rare entity, also carrying out a brief reappraisal of the cases of FD with a diffuse, atypical and generalized distribution that have been described in the literature. Histopathology with clinical correlation is the cornerstone of the diagnosis, even and especially in atypical cases. This patient with a disease duration of 58 years also represents the longest-lasting case of FD reported in the literature.

Cutaneous Involvement of Angioimmunoblastic T-cell Lymphoma

A 74-year-old man with chronic lymphocytic leukemia and angioimmunoblastic T-cell lymphoma (AITL) of the right lung was undergoing evaluation for initiation of chemotherapy. Bendamustine and rituximab were previously initiated but stopped after one month due to adverse effects. The patient subsequently completed 7 years of ibrutinib therapy, which was halted 3 weeks prior to presentation due to its ineffectiveness and significant hematologic lab abnormalities. Treatment with CHOP (cyclophosphamide, doxorubicin hydrochloride, vincristine sulfate, prednisone) was proposed, however the patient had a nodule concerning for cellulitis on the left fifth palmar digit requiring treatment prior to chemotherapy initiation. No improvement was seen after courses of cephalexin and doxycycline. Due to a lack of response to these two antibiotics, dermatology was consulted for further evaluation.
 On physical exam, there was a 1.3-cm red-violaceous crusted nodule on the palmar aspect of the left fifth digit (Figure 1, panel A). Dermoscopy showed central orange-tan pigmentation with loss of normal acral ridge pattern and surrounding irregular vessels (Figure 1, panel B). The differential diagnosis included Sweet syndrome, drug eruption, infection, and malignancy. A punch biopsy was performed and showed an atypical lymphocytic nodular infiltrate with angioinvasive and angiodestructive features, and immunohistochemical stains suggested AITL. The patient’s clinical stage was changed from stage II to stage IV AITL due to skin involvement, and the patient was started on CHOP treatment.
 AITL is a peripheral CD4+ follicular T-helper cell-based lymphoma that presents with B symptoms and generally has a poor prognosis after conventional chemotherapies [1]. Though rare, AITL has been reported to present with skin manifestations in up to 50% of cases, which typically present as macular or papular eruptions on the trunk, similar to toxic erythema of chemotherapy, drug eruptions, or viral exanthems [2]. However, there are multiple case reports of AITL mimicking a variety of systemic dermatologic or oncologic entities, including dermatomyositis, systemic lupus erythematosus, vasculitis, and urticaria [3].
 This case of AITL with cutaneous involvement illustrates an uncommon presentation of this peripheral lymphoma that often has skin manifestations. The presence of skin involvement implies an advanced clinical stage, which confers a poorer prognosis [4]. Due to its variable presentations in the skin, it is often misdiagnosed as a vasculitis or exanthem, particularly when its initial presentation is in the skin without prior diagnosis of internal AITL malignancy [3]. As in this case, most patients are treated for their condition with chemotherapy, starting with anthracycline-based chemotherapy, and often require higher-dose or modified therapy due to the short response duration [4]. Here, we highlight the diagnostic challenge of AITL and the clinical importance of its identification for appropriate staging and treatment of this condition.

Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Juvenile Spondyloarthritis (JSpA): To What Extent Are They Related?

Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disease occurring mainly in the pediatric age group (before 16 years) and generally presents as a separate entity. Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome combines osteoarticular and cutaneous involvement, similar to CRMO, and falls into the spectrum of spondyloarthritis (SpA). The fact that a patient can progress from one disease to another raises the question of whether CRMO, like SAPHO, could fall within the spectrum of SpA, ranging from a predominantly osteoarticular form to an enthesitic form with more or less marked skin involvement. In this review, we set out to discuss this hypothesis by highlighting the differences and similarities between CRMO and juvenile SpA in clinical, radiological and pathophysiological aspects. A common hypothesis could potentially consider intestinal dysbiosis as the origin of these different inflammatory diseases. Interindividual factors such as gender, environment, genetics and/or epigenetic background could act as combined disease modifiers. This is why we suggest that pathophysiology, rather than clinical phenotype, be used to reclassify these diseases.

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population in the United States (U.S.) is unclear. Phenotypes of 53 patients who presented between 2006-2022 with OA/OCA were retrospectively correlated with genetic testing results. Genetic diagnostic yield was defined as detection of pathogenic/likely pathogenic variant(s) matching the anticipated inheritance for that gene-disease relationship. Variant reclassifications of those with variants of uncertain significance (VUS) and without positive diagnostic yield were completed. Overall initial genetic diagnostic yield of OA/OCA was 66%. There was no significant difference (p = 0.59) between race and ethnicities (Black (78%), White (59%), Hispanic/Latino (64%)); however, the diagnostic yield of OA (33%) was significantly lower (p = 0.007) than OCA (76%). Causative variants in OCA2 (28%) and TYR (20%) were most common. Further, Hermansky-Pudlak syndrome variants were identified in 9% of patients. Re-classification of VUS in non-diagnostic cases resulted in genetic diagnoses for 29% of individuals and increased overall diagnostic yield to 70% of all subjects. There is a high diagnostic yield of genetic testing of patients overall with OA/OCA in a diverse U.S. based pediatric population. Presence or absence of cutaneous involvement of albinism significantly affects genetic diagnostic yield.