Telangiectasia In Patients Research Articles

ARGONOPLASMIC COAGULATION IN THE TREATMENT OF CHRONIC RADIATION PROCTITIS COMPLICATED BY BLEEDING

Rationale: Chronic radiation proctitis is a complication of remote radiation therapy used to treat malignant neoplasms of the pelvis, and is often complicated by the development of rectal bleeding. Argonoplasmic coagulation is one of the available endoscopic methods of their treatment, but the effectiveness of its use needs to be studied.Objective: To evaluate the effectiveness of endoscopic argonoplasmic coagulation to eliminate telangiectasias of the rectal mucosa in patients with chronic radiation proctitis complicated by bleeding, and to present a sectoral classification of lesions of the rectal mucosa with telangiectasias.Methods: The article presents the results of treatment of 18 patients with chronic radiation proctitis who underwent argonoplasmic coagulation of telangiectasias of the mucous membrane of the rectum in order to stop bleeding and prevent their occurrence. To assess the effectiveness of treatment, a sectoral classification of the rectal lesion was applied.Results: After argonoplasmic coagulation of telangiectasia of the rectal mucosa, all patients had no rectal bleeding for 6 months. In 13 (72%) patients, there was a sharp decrease in the frequency of blood excretion during defecation, in the remaining 5 (28%) patients there was no blood excretion from the rectum. In the postoperative period, two recurrence of bleeding from the treatment site was observed on the second and seventh days of the postoperative period, which required repeated application of argonoplasmic coagulation.Conclusion: Endoscopic argonoplasmic coagulation is effective in eliminating telangiectasia in patients with chronic radiation proctitis complicated by bleeding. The presented sectoral classification of rectal lesions in chronic radiation proctitis is convenient to use and contributes to the assessment of changes in the mucous membrane of the rectum in dynamics.

Rosacea treatment with mussel adhesive protein delivered via microneedling: Invivo and clinical studies.

Rosacea is a prevalent chronic dermatological condition marked by facial inflammation and erythema, significantly compromising the quality of life for affected individuals. Current treatment methods for rosacea are not considered ideal because of the complex etiology of the disease. Mussel adhesive protein (MAP) is a glycoprotein derived from the foot gland of mussels. The protein exhibits anti-inflammatory properties, relieves skin itching, and promotes wound healing. We aimed to explore the feasibility of using MAP administered via microneedle delivery for treating rosacea and the potential molecular mechanism involved. The therapeutic effect and mechanism of MAP microneedle delivery in an LL-37-induced rosacea-like mouse model were observed using morphological and histological methods. Twenty-seven patients with erythematotelangiectatic rosacea (ETR) underwent treatment once every 1 month, with three treatments constituting one treatment course. The therapeutic effect was evaluated by comparing the clinical images taken at baseline, after the first treatment course, and after the second treatment course. The red value, CEA, and GFSS score were also calculated. In response to the microneedle delivery of MAP, innate immunity, inflammatory infiltration, and abnormal neurovascular regulation improved significantly in rosacea-like mice. In the clinical experiments, the microneedle delivery of MAP significantly improved the symptoms of erythema, flushing, and telangiectasia in patients with ETR, and no obvious adverse reactions were observed. MAP delivered by microneedling is effective and safe for treating ETR.

Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited

PurposeThe Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they lack details regarding a predictive presentation of epistaxis and telangiectasias. This study collects and compares data in HHT and population cohorts to inform the application of these criteria. MethodsIn-person interviews regarding epistaxis and targeted examination for telangiectases in a general population cohort (n = 204) and an HHT cohort (n = 432) were conducted. ResultsFrequency of epistaxis, rather than intensity or duration, was the best discriminator of HHT. A cutoff of ≥4 nosebleeds per year alone yielded a diagnostic sensitivity of 97%, and specificity of 84%. The mean number of telangiectases at the sites investigated was 0.4 in the general population cohort and 26.5 in the HHT cohort. The most distinctive sites for telangiectases in HHT were lips and palmar fingers, whereas telangiectases of the face and dorsum of the hand were comparable in both cohorts. ConclusionWe propose that the Curaçao criteria be modified to include the following cutoffs: (1) epistaxis frequency of ≥4 nosebleeds per year and (2) telangiectasia count of at least 2 in characteristic locations (palmar aspect of fingers, lips, and oral cavity), and that cutaneous telangiectases at other sites not be considered relevant for diagnostic purposes.

Fate of minor lower limb varicosities after Endovenous Thermal Ablation in patients with lower limb Varicose veins with incompetent Sapheno-femoral Junction

Objectives This was an open-label randomized comparative two arms study to assess the efficacy and clinical outcome of endovenous thermal ablation on reticular veins and telangiectasias in patients with lower limbs varicose veins with incompetent Sapheno-femoral Junction. Patients and methods A total of 40 patients [15 (37.5%) males and 25 (62.5%) females] with reflux of the long saphenous vein were subjected to radiofrequency ablation (RFA). 20 patients had RFA alone while the other 20 patients underwent RFA and injection sclerotherapy. Then patients were followed up on 1 week after the procedure, 3 months, 6 months, and 1 year by duplex and clinically using venous clinical severity score. Results There were 37.5% males and 62.5% females. There was a statistically significant difference in both groups regarding patients’ symptoms (pain, heaviness, and swelling) before and after serial times of follow-up, which was assessed by the VCSS, denoting marked improvement of patients’ symptoms. Also, there was a statistically significant difference (P<0.001) concerning duplex results regards the reflux before and following RFA. Reticular veins follow-up, we found that in group A they were present among 35% of patients on 1-week follow-up. This increased to reach 70% after 1 year of follow-up, however, in group B they were absent among all patients on 1 week follow-up. They were present among 15% of patients after 1 year of follow-up. Conclusion RFA with concomitant sclerotherapy for the associated minor veins have proved to be safe, cost-effective and more patient satisfaction than RFA without concomitant sclerotherapy.

Systemic bevacizumab to facilitate anticoagulation in antiphospholipid syndrome and bleeding gastrointestinal angiodysplasia.

Bleeding gastrointestinal angiodysplasia may occur in patients with vasculitis and can be challenging to treat. We describe the novel use of bevacizumab therapy to treat bleeding gastrointestinal angiodysplasia and severe anemia in a patient with eosinophilic granulomatosis with angiitis complicated by antiphospholipid antibody syndrome requiring indefinite warfarin therapy. Studies confirmed multiple bleeding jejunal angiodysplasias unamenable to endoscopic intervention, and the patient required ongoing support with iron infusions and blood transfusions to maintain a minimally acceptable hemoglobin. Given the severe anemia, need for continued, indefinite antiplatelet and anticoagulation therapy, and failure of standard treatment approaches, the patient was initiated on systemic bevacizumab therapy, on the basis of prior documented success of bevacizumab to manage gastrointestinal telangiectasias in patients with hereditary hemorrhagic telangiectasia. Bevacizumab was highly effective, with rapid resolution of bleeding, normalization of hemoglobin, liberation from hematologic support and no adverse events, including no thromboembolic events. Vascular endothelial growth factor (VEGF-A) rose paradoxically after initiation of bevacizumab and normalized after its discontinuation. Given these findings, use of systemic bevacizumab to manage bleeding angiodysplasia in patients with acquired vascular disorders merits further study.

Serum levels of tissue factor pathway inhibitor: Potential association with Raynaud's phenomenon and telangiectasia in patients with systemic sclerosis.

Vasculopathy is a critical step of systemic sclerosis (SSc) development, bridging between autoimmune inflammation and tissue fibrosis. Impaired coagulation system is a part of SSc vasculopathy, but the role of tissue factor pathway inhibitor (TFPI), a critical regulator of the extrinsic coagulation pathway, remained unknown. Therefore, we evaluated the clinical correlation of serum TFPI levels in SSc patients. Serum TFPI levels were comparable between SSc and control participants, but SSc patients with Raynaud's phenomenon and telangiectasia had significantly lower serum TFPI levels than those without. Importantly, there was a significant positive correlation between serum TFPI levels and protein S activity. These results support the critical role of impaired coagulation system in SSc.

Topographic Relationship between Telangiectasia and Cone Mosaic Disruption in Macular Telangiectasia Type 2.

In this cross-sectional observational study, we investigated the relationship between photoreceptor layer disruption and telangiectasia in patients diagnosed with early stage macular telangiectasia type 2 (MacTel). A total of 31 eyes (17 patients) with MacTel were imaged with adaptive optics scanning laser ophthalmoscopy (AOSLO) and optical coherence tomography angiography (OCTA). Confocal AOSLO was used to visualize dark regions of nonwaveguiding outer segments, which we refer to as “photoreceptor lesions”. En-face OCTA images of the deep capillary plexus (DCP) were used in conjunction with confocal AOSLO to evaluate the topographic relationship between areas of capillary telangiectasias and photoreceptor lesions. Among seven eyes with early stage MacTel (stage 0–2 based on OCT), we identified ten photoreceptor lesions, all of which were located within parafoveal quadrants containing DCP telangiectasia on OCTA. Seven of the lesions corresponded to the intact ellipsoid zone on spectral-domain OCT (SD-OCT), and three of these also corresponded to the intact interdigitation zone. This work demonstrates a topographic relationship between AOSLO photoreceptor lesions and DCP telangiectasias, and it also suggests that these lesions with normal SD-OCT appearance may represent areas of photoreceptors at risk for dysfunction. Thus, confocal AOSLO may have a meaningful role in detecting early photoreceptor abnormalities in eyes with MacTel.

Retrospective Study of Factors Affecting Efficacy of Therapy with Dye Pulsed Light for Erythematotelangiectatic Rosacea.

IntroductionDye pulsed light (DPL) was proven to be effective at treating erythematous and telangiectatic skin disorders. However, there are limited data on the efficacy of DPL treatment for erythematotelangiectatic rosacea (ETR), and researchers do not fully understand the factors that may affect the efficacy. Here, we performed a study to investigate the efficacy of DPL treatment for ETR and determine the factors affecting that efficacy.MethodsSixty-five patients with ETR underwent three treatment sessions with DPL at 4-week intervals and were followed up at 4 weeks after the last treatment session. Skin type, sex, age, lesion site, severity of erythema and telangiectasia, VISIA percentile ranking, clinical photographs and red area images were recorded at baseline. The post-treatment erythematous and telangiectatic scores and VISIA percentile rankings were recorded, and the effects of different personal and clinical factors on the efficacy were statistically analysed.ResultsThe erythema and telangiectasia scores and VISIA percentile rankings showed significant improvement after the DPL procedures (p < 0.01). With regard to erythema, treatment efficacy was not affected by any of the investigated variables, including pre-treatment erythema scores, skin type, pre-treatment VISIA percentile ranking, sex, age and lesion site (p > 0.05). With regard to telangiectasia, the treatment efficacy was greater for mild telangiectasia than for severe telangiectasia (odds ratio = 4.14, p < 0.05). There was no significant difference in treatment efficacy between the moderate and severe categories (odds ratio = 4.00, p > 0.05).ConclusionDPL is not the optimal procedure for treating severe telangiectasia in patients with ETR, whereas the efficacy of the treatment for erythema was not affected by the severity of the condition.

Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. They were then surveyed for information concerning their dominant hand, exposure to sunlight, and types of regular manual work. Patients developed more telangiectases on their dominant hand and lower lip (Wilcoxon rank sum test: p < 0.001). Mechanical stress induced by manual work led to an increased number of telangiectases on patients’ hands (Mann–Whitney U test: p < 0.001). There was also a positive correlation between sun exposure and the number of telangiectases on the lips (Mann–Whitney U test: 0.027). This study shows that mechanical and UV-induced trauma strongly influence the formation of telangiectases in HHT patients. This result has potential implications in preventive measures and on therapeutic approaches for HHT.

Clinical Practice Guideline: Nosebleed (Epistaxis).

ObjectiveNosebleed, also known as epistaxis, is a common problem that occurs at some point in at least 60% of people in the United States. While the majority of nosebleeds are limited in severity a...

Clinical Practice Guideline: Nosebleed (Epistaxis) Executive Summary.

ObjectiveNosebleed, also known as epistaxis, is a common problem that occurs at some point in at least 60% of people in the United States. While the great majority of nosebleeds are limited in seve...

Prevalence of hereditary hemorrhagic telangiectasia in patients operated for cerebral abscess: a retrospective cohort analysis.

It is well described that patients with pulmonary arteriovenous malformations (PAVMs) and Hereditary Hemorrhagic Telangiectasia (HHT) have an increased risk of cerebral abscess (CA). However, as both CA and HHT are rare, the proportion of patients with CA who are diagnosed with HHT has not been previously described. A retrospective study was carried out of all patients treated surgically for CA between January 1995 and September 2014 at the Department of Neurosurgery, Odense University Hospital. The cases were then cross-referenced with the Danish HHT database. Eighty patients aged 5-79years were included. The incidence of CA was 0.33/100,000/year. Two patients (2.5%) were registered as having HHT. Bacterial pathogens were identified in 70% of all cases, most frequently streptococci species (46.3%). The most common predisposing condition was odontogenic infection (20%), followed by post-operative infection (13.8%) and post-trauma (6.3%). Patients undergoing a full diagnostic program to determine predisposing conditions causing CA increased over the 20-year period from 11.8% to 65.2%. The 3-month and 1-year mortality rates were 7.5% and 11.25%, respectively. There is an overrepresentation of HHT patients in a cohort of patients with CA, and HHT should be investigated as the cause of the CA if no other apparent cause can be identified.

Lack of efficacy of topical timolol for cutaneous telangiectasias in patients with hereditary hemorrhagic telangiectasia: Results of a pilot study

Lack of efficacy of topical timolol for cutaneous telangiectasias in patients with hereditary hemorrhagic telangiectasia: Results of a pilot study

A comparison of intense pulsed light and laser treatment of telangiectases in patients with systemic sclerosis: a within-subject randomized trial

Cutaneous telangiectases are a characteristic and psychologically distressing feature of SSc. Our aim was to assess the efficacy of two light-based treatments: pulsed dye laser (PDL) and intense pulsed light (IPL). Nineteen patients with facial or upper limb telangiectases underwent three treatments with PDL and IPL (randomly assigned to left- and right-sided lesions). Outcome measures were clinical photography (assessed by two clinicians), dermoscopy (assessed by two observers), laser Doppler imaging (LDI) and observer and patient opinion, including patient self-assessment psychological questionnaires [Hospital Anxiety and Depression Scale (HADS), Adapted Satisfaction with Appearance Scale (ASWAP)]. Comparison between 16-week follow-up and baseline photography scores (from -2 to +2 on a Likert scale, with >0 being improvement) were a mean score for PDL of 1.7 (95% CI 1.4, 2.0) and for IPL 1.4 (0.9, 1.8), with a mean difference between PDL and IPL of -0.3 (-0.5, -0.1) (P = 0.01). Dermoscopy scores also improved with both therapies: PDL 1.3 (1.1, 1.5) and IPL 0.8 (0.5, 1.1), again greater with PDL (P = 0.01). LDI showed decreases in blood flow at 16 weeks, indicating a response to both therapies. All patients reported benefit from treatment (more preferred PDL at 16 weeks). Psychological questionnaires also indicated improvement after therapy with mean change in ASWAP of -13.9 (95% CI -20.5, -7.4). No side effects were reported for IPL; PDL caused transient bruising in most cases. Both PDL and IPL are effective treatments for SSc-related telangiectases. Outcome measures indicate that PDL has better outcomes in terms of appearance, although IPL had fewer side effects.

Retrospective analysis of the frequency of centrofacial telangiectasia in systemic sclerosis patients treated with bosentan or ilomedin

BackgroundBosentan is a dual endothelin receptor antagonist initially introduced for the treatment of pulmonary arterial hypertension and recently approved for the treatment of digital ulcers in patients with systemic sclerosis (SSc). Our clinical observations indicate that bosentan therapy may be associated with an increased frequency of centrofacial telangiectasia (TAE). Here, we sought to analyze the frequency of TAE in patients with SSc who were treated with either bosentan or the prostacyclin analog iloprost.MethodsWe conducted a retrospective analysis in 27 patients with SSc undergoing therapy with either bosentan (n = 11) or iloprost (n = 16). Standardized photodocumentations of all patients (n = 27) were obtained at a time point ten months after therapy initiation and analyzed. A subgroup of patients (bosentan: n = 6; iloprost: n = 6) was additionally photodocumented prior to therapy initiation, enabling an intraindividual analysis over the course of therapy.ResultsAfter ten months of therapy patients with SSc receiving bosentan showed a significantly (P = 0.0028) higher frequency of centrofacial TAE (41.6 ± 27.8) as compared to patients with SSc receiving iloprost (14.3 ± 13.1). Detailed subgroup analysis revealed that the frequency of TAE in the bosentan group (n = 6 patients) increased markedly and significantly (P = 0.027) by 44.4 after ten months of therapy (TAE at therapy initiation: 10.8 ± 5.1; TAE after ten months of therapy: 55.2 ± 29.8), whereas an only minor increase of 1.9 was observed in the iloprost group (n = 6 patients; TAE at therapy initiation: 18.3 ± 14.5; TAE after ten months of therapy: 20.2 ± 15.5), yet without reaching statistical significance (P = 0.420).ConclusionsThe use of bosentan may be associated with an increased frequency of TAE in patients with SSc. Patients should be informed about this potential adverse effect prior to therapy. Treatment options may include camouflage or laser therapy.

Generalized essential telangiectasia

Generalized essential telangiectasia, which is a rare condition that is characterized by the progressive development of telangiectases on the skin, is a clinical diagnosis of exclusion. We present a 65-year-old man with a ten-month history of an asymptomatic eruption of the trunk and proximal aspects of the arms and hands that was comprised of macules and patches of telangiectases. The clinical presentation, associated diseases, hypotheses regarding pathogenesis, differential diagnoses, and reports on treatment modalities are reviewed. The relatively new association of this entity with systemic signs that include hemorrhage as well as the occurrence of generalized essential telangiectasia in patients with a history of hepatitis is discussed.

Combination Therapy of Hyaluronic Acid Mesotherapic Injections and Sclerotherapy for Treatment of Lower Leg Telangiectasia Without Major Venous Insufficiency

Telangiectasia is the dilation of dermal capillaries mainly due to hypertension and vein insufficiency. Treatments of choice for this condition are sclerotherapy with foam liquid or intradermal fiber optic laser energy delivery. The aim of this study was to assess the efficacy of a new therapeutic approach consisting in the use of polymerized hyaluronic acid mesotherapic injections following sclerotherapy in the areas of the skin affected by telangiectasia in patients without major vein insufficiency. A total of 20 women, aged between 19 and 64 years, affected by recurrent lower leg telangiectasia, were included in this study. Patients were preliminarily submitted to echo color Doppler sonography to rule out severe saphenofemoral valve and lower limb major vein insufficiency. All patients underwent 3 sessions a month of polidocanol 1% capillary injections for 2 months. This was followed by 0.1 ml cross-linked hyaluronic acid introduction in the polidocanol 1% needle track. A total of 50 mesotherapic injections (0.05 ml each) were performed on the skin surface where an ice pack was previously applied for 4 to 5 minutes. A follow-up visit was performed at 3 months. The results, based on photographic examination, were rated as follows: poor improvement (0%-50%), good improvement (51%-75%), and very good improvement (76%-100%). The side effects of the clinical procedure, in terms of pain, itching, paresthesia, ecchymosis, and relapse of telangiectasia over the treated skin surface, as well as a persisting pigmentation in the injection spots and induced benefits related to leg heaviness and comfort, were recorded. In total, 6 patients displayed a slight venous insufficiency, 3 patients displayed patent venous insufficiency, and 11 patients did not show any venous insufficiency. Before treatment, itching was present in 18 out of 20 patients, paresthesia in 15 out of 20 patients, ecchymosis in 16 out of 20 patients, and leg heaviness in 15 out of 20 patients. At the 3-month follow-up, an improvement of 0% to 50% was observed in 4 patients who had a relapse in telangiectasia. A 51% to 75% improvement was observed in 3 patients and a 76% to 100% improvement occurred in 13 patients. At the 3-month follow-up, itching persisted only in 4 patients; paresthesia was absent in 12 patients, while 3 patients still presented this symptom; ecchymosis was absent in 16 patients; 15 patients reported a feeling of lightweight legs. Among the patients with relapsing telangiectasia, 2 patients reported pigmentation due to hemosiderin deposit in the skin at the 3-month follow-up. The slight venous insufficiency, observed at the beginning of the study, improved in 5 out of 6 patients. The patients' compliance with the procedure was high and 16 out of 20 patients declared their willingness to repeat the whole clinical procedure, if necessary. This pilot clinical study supports the use of hyaluronic acid mesotherapic injections following sclerotherapy for treatment of lower leg telangiectasia without major venous insufficiency. We propose that the prolonged persistence of cross-linked hyaluronic acid, across the microvascular venous areas, is able to induce a stronger stromal tissue, thus preventing relapse. Further clinical studies, comparing this new approach with existing clinical procedures, are needed in a larger number of patients.

Abstract 3727: Telangiectasias in the skin of patients: Indicator of angiogenic status of tumors?

Abstract Background: The angiogenic status of a tumor is related to the prognosis of the patient, and to the possibility of treatment with angiogenesis inhibitors. Patients who express telangiectasias (spiders) in the skin have an increased ability to form vessels, due to, for example, hormonal influences. We hypothesized that tumor tissue to some extent resembles the normal tissue in a patient, which could mean that is if a patient is prone to form spiders in the skin, the same would be true in their tumors. Spiders are associated with hormonal influence, and therefore telangiectasias in patients could be a reflection of hormonal influence and angiogenic status of their tumor. Materials and methods: A clinical series of 1682 consecutive breast cancer patients diagnosed between 1980 and June 2009 were studied. One physician scored the presence/absence of spiders on the upper part of the body at the time of breast cancer diagnosis. The aim was to further study the association between telangiectasias and classical histopathologic subtypes of breast cancer, HRT-ever use, life time number of menstrual cycles and ever use of oral contraceptive pills (OCP). All analyses were performed using multivariate logistic regression, a confidence interval (CI) of 95% was used. Results: The occurrence of telangiectasias of the upper thorax, neck and face was positively associated with HRT-ever use (OR = 3.24 (CI 2.02 – 5.19)), OCP-ever use (OR = 2.08 (CI 1.30 – 3.32)) and high number of menstrual cycles, above 550 – the upper quartile OR = 4.57 (CI 1.49-13.95). Weight was also associated with spiders, p = 0.006. Contrary to the other histopathologic subtypes no telangiectasias in the skin were observed in patients with comedo carcinoma, p = 0.0002 (Fisher's exact test). No significant difference in spiders was seen between the other patients with the other subtypes. The results above were adjusted for age at diagnosis and for each studied variable simultaneously. Conclusion: The occurrence of spiders was associated with several hormonal factors indicating the importance of hormones in the induction of telangiectasias. Our theory that the tendency to form vessels is similar in normal tissue as well as in tumor tissue could explain the necrotic core in comedo carcinoma. It has been hypothesized that the necrotic core is due to the high growth rate of the tumor, but it might be due to a lesser ability to form vessels. Are comedo carcinoma patients a group who benefit less from anti-angiogenic therapy while patients with strong endogenous or exogenous hormonal exposures would benefit more from anti-angiogenic therapy? Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 3727. doi:10.1158/1538-7445.AM2011-3727

Skin Manifestations in Primary Immunodeficient Children

Skin manifestations are prevalent in primary immunodeficiency disorders (PID). In a large proportion of patients, they manifest as presenting signs and serve as important factors for the early diagnosis of PID. Only a few studies describing the spectrum of skin disorders in PID are available. The objective of the current study was to determine the prevalence and characteristics of skin manifestations in children with PID. Participants were 128 pediatric patients with PID (aged <16 years) registered prospectively over 6 years. Skin manifestations were observed in 61 patients (48%), and those manifestations were the presenting features in 50 (39% of total PID and 82% of those with skin lesions). Skin infections were the most prevalent manifestations, seen in 39 patients (30%), followed by eczemas in 24 (19%). Skin infections were significantly more prevalent in those with congenital defects in phagocyte number, function, or both, as well as in those with well-defined immunodeficiencies. Although widely present in all participants with PID, eczema was a consistent feature (100%) in patients with hyper IgE syndrome and Wiskott-Aldrich syndrome (WAS). Erythroderma of infancy with diffuse alopecia was seen exclusively in patients with severe combined immunodeficiency disorders, telangiectasia in patients with ataxia telangiectasia, and partial albinism with silvery gray hair in those with Chediak-Higashi syndrome. Autoimmune skin manifestations were observed in 6% of reported cases of PID. This study highlights the importance of awareness of skin manifestations of PID to assist in the early diagnosis and management of these disorders.

Highlights from Recent Cancer Literature

Highlights from Recent Cancer Literature