Prominent Veins Research Articles

Diagnosis of Renal Artery Aneurysm by Point-of-Care Ultrasound in the Emergency Department: A Case Report and Brief Review of the Literature

BackgroundRenal artery aneurysm (RAA) is defined as a focal dilatation of ≥50% of the adjacent, disease-free artery. Although typically asymptomatic, RAA can lead to hypertension, hematuria, and rupture. The risk of rupture is higher in pregnant patients and may result in the death of the mother and the fetus. We describe a case of RAA discovered on point-of-care ultrasound (POCUS) in the emergency department. Case ReportA 46-year-old woman with no medical history presented to the emergency department with lower abdominal pain, vomiting, diarrhea, and increased urination. POCUS was performed to evaluate the cause of the patient's symptoms. This study revealed a 2.40 cm × 3.65 cm aneurysm in the right kidney. Why Should an Emergency Physician Be Aware of This?Rupture of RAA occurs in 3% to 5% of cases. Mortality to both the mother and the fetus is particularly high in gravid patients. RAA may be mistaken for other renal entities such as prominent renal veins or hydronephrosis. Properly identifying this pathology via POCUS can lead to early intervention. © 2022 Elsevier Inc.

A Patient with Congenital Generalized Lipodystrophy

Background: Congenital generalized lipodystrophy (CGL) presents during the first two years of life. It is a rare autosomal recessive inherited disease with loss of cutaneous fat and various complaints and complications such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis.
 Case Report: A patient was hospitalized with abdominal distention, weight loss, irritability, and pruritus. Massive hepatomegaly, huge splenomegaly, multiple significant lymphadenopathies, hypertrichosis, generalized subcutaneous fat loss with bird-faced, increased musculature, and prominent superficial veins were detected on examination. In paraclinical evaluation, hyperlipidemia and severe liver fibrosis (grade 5) were diagnosed, and she was discharged as a case of congenital generalized lipodystrophy.
 Conclusion: In an approach to a child with hepatosplenomegaly, lipodystrophy should be in mind.

Risk Assessment of Varicose Veins Among Teachers in Al-Ahsa, Saudi Arabia.

BackgroundVaricose veins (VV) are abnormally swollen, tortuous, and prominent veins caused by insufficient venous valves leading to venous congestion and elevated venous pressure. Prolonged standing at work has been proposed to be an important risk factor for varicose veins. Teachers are prone to have varicose veins due to prolonged standing. The aim of this study was to assess the risk of varicose veins among teachers in Al-Asha, Saudi Arabia.MethodThis was a cross-sectional study conducted among teachers of primary, secondary, and high schools in Al-Ahsa, of both genders, between April 2022 and June 2022. The participants were interviewed and examined for the presence of signs and symptoms of the disease. Finally, the collected data were analyzed using Statistical Package for Social Sciences (SPSS Inc., Chicago, IL, version 26.0 for Windows) software.ResultOut of 399 participating teachers with a mean age of 43.2 ± 12.9 years, 216 (54.1%) were males and the remainder were female. The commonest symptom was pain in the legs, which was exacerbated by work (43.1%). Most of the participants were working for more than 16 years (43.6%) and standing for less than six hours per day (72.7%). The most pointed sign was spider legs-shaped veins (23.8%). However, the least collective sign was paleness in the ulcer area after healing (1.8%). A total of 140 teachers had a family history of varicose veins, 74 of them (18.5%) were diagnosed with varicose veins previously. We summarize our result as female teachers who have a family history of VV have more risk to develop the disease.ConclusionThe prevalence of varicose veins was high among teachers in Al-Ahsa, Saudi Arabia. According to our study, teachers have a significant chance of developing the condition since their working style contributes to its progression. Further actions need to be made in order to increase awareness and prevent its complications.

Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation

The Hutchinson-Gilford Progeria (HGP) syndrome is an exceptionally rare genetic condition characterized by premature and accelerated aging in children. It is demonstrated by developmental delay along with progressive degenerative changes of the integumentary, musculoskeletal, cardiac, and vascular systems. In this case report, we describe the ocular manifestations of Hutchinson-Gilford Progeria (HGP) syndrome of a 20-year-old Bangladeshi boy. The patient had the classic triad of prominent eyes, loss of eyebrows or madarosis and lagophthalmos, which are the most common ocular manifestations.He also developed dry eye, keratinized ocular surface, Meibomian gland dysfunction, vascularized cornea, symblepharon, corneal opacification, and cataract. He had several systemic manifeastations that included senile facies, prominent scalp veins, generalized alopecia with plucked bird appearance, and sclerodermatous changes.

A brief review on pharmacological and phytochemical activity of plantago major LINN.

Great plantain, or Plantago major (P. major), is a widely used medicinal plant from the Plantaginaceae family (1). Traditional Persian Medicine (TPM) calls Plantago major "Lesan-ol-haml" or "Barhang" (2). Plantago major has been found in Europe, America, and Asia for about 4000 years, according to researchers. Plantago major has a variety of active components, including flavonoids, polysaccharides, terpenoids, lipids, iridoid glycosides, and caffeic acid derivatives (5), and is used to treat constipation, coughing, wounds, infection, fever, bleeding, and inflammation (3). It's a herbaceous perennial with a 15-30 cm wide rosette of leaves. Each leaf is oval in shape, about 5-20 cm long and 4-9 cm wide (occasionally 30 cm long and 17 cm wide), with a sharp apex and smooth border, and five to nine prominent veins. The seeds are tiny, oval in form (0.4–0.8 0.8–1.5 mm), and have a slightly bitter flavour (Samuelsen, 2000). Small greenish-brown flowers with purple stamens are formed in a dense spike 5-15 cm long on top of a stem 13-15 cm tall (occasionally to 70 cm tall). It grows better in compacted soils than most other plants, and it can be seen growing beside walkways, roadsides, and other sites where soil compaction is common.

Adjacent Portal Vein Collateral With Retrograde Flow

A prominent portal vein collateral, detected on duplex examination, confirms the diagnosis of portal vein hypertension (PVHTN). We present a patient referred to the vascular laboratory for a portal vein duplex ultrasound (DUS) examination with elastography. The most significant finding was retrograde (hepatofugal) flow in a prominent portal vein collateral located immediately adjacent to the main portal vein. This DUS examination highlights the techniques that identify spontaneous portosystemic shunts, thus confirming the presence of PVHTN.

Does adding a sequence in brain MRI help in evaluation of seizures?

Objective To evaluate the diagnostic utility of ‘Susceptibility Weighted Angiogram’ (SWAN) in brain magnetic resonance imaging (MRI) by identifying venous angiomas causing epileptic seizures. Method and Materials A retrospective observational study was performed in the Radiology department at King Fahad Military Medical Complex (KFMC) hospital in Dhahran from January 2016 to 2021. All consecutive adult patients who underwent brain MRIs for epilepsy with SWAN were included. Patients with brain tumors, traumatic brain injuries, and post-surgical cases were excluded. The presence of tuft of small deep parenchymal veins draining into a more prominent (transcortical or subependymal) collector vein as seen on SWAN image was considered a venous angioma and confirmed on either contrast-enhanced studies or cerebral angiograms. Two experienced neuroradiologists interpreted the studies with mutual consensus. The significance of such finding was considered if SWAN-detected venous malformation corresponded to an epileptiform focus on respective electroencephalogram (EEG). Findings were compared with incidentally detected venous angiomas in normal brain MRIs in patients without indications of seizures (control group, n=112). Proportion analysis (Z-test) was used to determine significance. Results Out of 112 patients, 64 were females (57%), and 48 were males (43%), with a mean age of 19.24 (range, 5-45 years). Twenty-three patients (epilepsy group) were found to have venous malformations while three (control group) had venous angiomas (Z-value, 3.93; P-value, 0.0008). Out of 23 patients, 20.53% were SWAN-detected venous angiomas, 5 corresponded to epileptiform foci on respective EEGs compared to none of 3 incidentally detected venous angiomas in the control group (p-value, 0.0005). Conclusion Venous angiomas are usually asymptomatic when detected incidentally. However, adding a SWAN sequence in routine brain MRI for epilepsy patients may help to detect venous angiomas, which may cause focal seizure activity in these patients.

P054 Vascular Ehlers-Danlos syndrome: a life-altering diagnosis not to be missed

Abstract Background/Aims A 41-year-old lady underwent a laparotomy and small bowel resection for small bowel obstruction due to adhesions after presenting with a three-day history of abdominal pain. The surgery was complicated by significant bleeding from multiple points of the mesentery and a laceration of the uterine fundus, the repair of which was complicated due to extremely friable tissue. Post-operative ileus, fever, tachycardia, and raised inflammatory markers led to antibiotic therapy and further investigation with computed tomograph angiography (CTA) abdomen which identified a retroperitoneal haematoma due to a herald bleed from an adrenal artery pseudoaneurysm and multiple further true aneurysms in the coeliac, splenic, and right posterior hepatic arteries. The right adrenal artery aneurysm was treated by right renal artery stent graft as targeted embolisation was not possible due to extremely friable arterial intima that dissected and bled on instrumentation. The rheumatology team was consulted to advise on the possibility of vasculitis and whether treatment with immunosuppressives was indicated. Methods Prior to this admission, she denied any fever, weight loss, rash or neuropathies. There was a history of spontaneous peri-renal haematoma and easy bruising. She had three successful pregnancies; two were Caesarean section deliveries, one of which was complicated by post-partum bleeding. There was no family history of connective tissue diseases, sudden deaths, aneurysms or visceral ruptures. There were no clinical features of connective tissue disease. She was noted to have acrogeria, small finger joint hypermobility, large eyes, a small nose, and absent earlobes. There were prominent veins on her lower back, chest, arms, and legs. She had a normal palate arch, normal appearances of previous surgical scars, and there was no skin hyperextensibility. Results Inflammatory markers prior to admission were normal, with no cytopenias or thrombocytosis. ANA, ENA, ANCA, HIV, Hepatitis B/C, treponemal antibody, and rheumatoid factor/anti-CCP were negative. CTA showed no thickening suggestive of vascular/perivascular inflammation. Histopathology of resected small bowel and mesentery showed no evidence of vasculitis. A diagnosis of probable vascular Ehlers-Danlos syndrome (EDS) was made. She was not treated with steroids. Genetic testing confirmed a heterozygous mutation for a pathogenic missense variant in the COL3A1 gene: c.574G>C,p.(Gly192Arg), not previously reported to be associated with disease. Her inflammatory markers improved over time. She was discharged on celiprolol for blood pressure control and close surveillance of aneurysms. An extended screen for the presence of aneurysms elsewhere showed a left vertebral artery aneurysm and dissection at the C4/5 intervertebral foramen on CTA head. Genetic testing was offered to her family members, especially her three sons. Conclusion Vascular EDS is under-recognised and should be in the differential diagnosis of non-inflammatory vasculitis mimics in patients presenting with arterial ruptures, dissections or aneurysms to avoid potentially harmful treatment with immunosuppressive therapy. Disclosure S. Yeoh: Grants/research support; Versus Arthritis (unrelated to this work). C. von Stempel: None. C. Thornton: None. S. Yalamanchili: None. J. Manson: None.

Courveilhier Baumgarten Syndrome: A Rare Case Report

A 44 year old female had presented with history of abdominal distension of 20 days duration and on examination he had prominent abdominal vein and a venous hum with Ascites. He had no history of altered sensorium, melena. The clinical scenario was suggestive of Cruveilhier Baumgarten syndrome

Geochemical Evidence and Geological Prerequisites for Isochemical Metamorphism in the Kochumdek Contact Aureole (East Siberia)

Abstract —Marly limestone, marble, and gabbro–dolerite samples from the Kochumdek contact aureole are studied in order to estimate to which degree the spurrite–merwinite (T = 750–900 °C) metamorphism at the site was isochemical. The 3 m wide zoned Kochumdek aureole is located at the contact between the Early Triassic trap intrusion of the Kuzmovka complex (νβT1kz) and the overlying Llandovery marine marly limestones (S1ln) of the lower Kochumdek subformation in the right side of the Kochumdek River (tributary of the Podkamennaya Tunguska, East Siberia). The Kochumdek rocks are remarkable by the lack of prominent skarn or vein mineralization in marbles and autometasomatism in gabbro. The samples have been analyzed for major, chalcophile, rare-earth, and high-field strength elements. The Kochumdek marbles and marly limestones share similarity in major-element patterns that record mixing of fine siliciclastic material with biogenic and chemogenic CaCO3 components. The major-element chemistry of marly limestones has been controlled by the compositions of fine clastic material transported from the provenance (Trans-Angara part of the Yenisei Ridge) and by the deposition environment of the early Silurian marine basin. The contents of Cu, Ni, Co, V, Mo, Se, Cr, and U in marly limestones and marbles correspond to marine sediments deposited in a low-productive oxigenated environment. The Ni/Co, V/Cr, Cu/Zn, V/(V+Ni), and U/Th ratios in spurrite marbles at the intrusive contact remain within typical limestone ranges but differ from those in gabbro, which have higher V and Cu enrichment and moderate contents of Zn, Ni, and Co. Marly limestones and spurrite marbles show identical REE+Y patterns and average ΣREE contents. The major- and trace-element similarity between marbles and the protolith limestones, along with the absence of gabbro geochemical signatures in the metamorphic rocks, indicate that the thermal metamorphism was nearly isochemical. The reactions occurred without any large-scale transport of major and trace elements across the sill/sediment boundary. The conditions were unfavorable for metasomatic alteration due to low fluid saturation of the Kochumdek intrusion and its structural setting, as well as to the lithological, mechanical, and thermal properties of the sediments.

EP456: Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-Like lymphedema: First prenatal case report

Primary or congenital lymphedema occurs rarely on idiopathic or developmental abnormalities in the lymphatic system, especially hypoplasia or aplasia of lymphatics. Milroy disease (MIM #153100), an autosomal dominant congenital lymphedema, characterized by peripheral edema mainly of the lower extremities, is resulted from pathogenic variants in the vascular endothelial growth factor receptor 3 (VEGFR3) gene (MIM *136352). However, missense VEGFR3 variants were only identified in approximately 70% of the patients diagnosed with Milroy disease suggesting genetic heterogeneity of the condition. Recently, pathogenic variants in VEGFC gene (MIM *601528), encoding one of the VEGFR3 ligands, were associated with autosomal dominant Milroy-like primary lymphedema (MIM #615907), a rare autosomal dominant disorder, characterized by congenital isolated lymphedema. Hitherto, only twenty-six postnatal cases in six families world-wide with primary lymphedema harboring VEGFC single point pathogenic variants were recorded (Table 1). No prenatal cases as well as VEGFC deletions were reported. We report the three-generation family with Milroy-like disease. The proband is a 24+4-week female fetus. Ultrasonography at 23+5 weeks of gestation showed fetal edema of the feet, prefrontal edema and facial dysmorphism including broad nasal bridge, short philtrum, and full lower lip. The fetus’s mother was a 22-year-old female with occasional swelling of lower legs and ankles during pregnancy or warm weather. Dysplastic, upslanting and yellowish toenails were also observed. The fetus’s grandmother was a 40-year-old female and had a family history of lymphedema. Family history dates back to the fetus’s great-grandmother, maternal grand-aunt and two maternal cousins, they were all affected by edema. Congenital lymphedema of her feet progressed to legs but below the knees. Moreover, she also exhibited bilateral edema of the dorsi of both hands. Dysplastic and upslanting toenails, varicose, prominent veins and hyperkeratosis were also noted. Lymphoscintigraphy showed symmetrical tracer uptake, with a discrete reduction in uptake of tracer within the right groin lymph nodes. 180K aCGH analysis showed a 137 kb interstitial microdeletion within 4q34.3 region encompassing only VEGFC gene. Segregation analysis showed that the deletion was of maternal in origin. The fetus’s grandmother also carried the 4q34.3 deletion.View Large Image Figure ViewerDownload Hi-res image Download (PPT)View Large Image Figure ViewerDownload Hi-res image Download (PPT)View Large Image Figure ViewerDownload Hi-res image Download (PPT) To the best of our knowledge, this is the first prenatal report of VEGFC deletion. Our results reinforce that VEGFC haploinsufficiency is associated with primary Milroy-like lymphedema with incomplete penetrance, inter- and intra-familial variable expressivity, and contribute to add knowledge to the current literature with the description of the prenatal phenotype of Milroy-like disease. Our report also suggests that molecular VEGFC analysis should also be performed in VEGFR3-negative patients with congenital lymphedema.

Ultrasound-guided transforaminal approach for nusinersen delivery in adult spinal muscle atrophy patients with challenging access.

Previous papers on ultrasound (US)-guided delivery of nusinersen in patients with spinal muscle atrophy (SMA) described good results with translaminar approach. However, this approach is not possible in patients with spinal fusion and no visible interlaminar space on pre-procedural computed tomography (CT). US-guided transforaminal nusinersen delivery is a potential option that warrants investigation. Twenty adult SMA patients with challenging access were treated in our institution under cone beam CT (CBCT) guidance. The patients were already in the maintenance phase of the dosing protocol and were prospectively evaluated for US-guided transforaminal approach. After they completed one injection via US-guided transforaminal approach, success and safety of the approach were analyzed. Patients shared their experience on US-guided in comparison to CBCT-guided injections. US-guided transforaminal puncture was possible in 14 (70.0%) patients, although 2 of them required needle repositioning under fluoroscopy due to inadvertent access of a prominent vein. US-guided transforaminal approach was therefore successful in 60% of patients. Mild adverse events were recorded in four patients. The survey on patients' experience showed that seven reported no difference in the two approaches, six preferred the US-guided procedure, and one preferred the CBCT-guided procedure. US-guided transforaminal lumbar approach is an effective and safe method of intrathecal nusinersen delivery in adult SMA patients with challenging spinal access and could be considered the first option in appropriately selected adult SMA patients requiring transforaminal nusinersen delivery.

Ultrasound Analyses of the Dorsal Hands for Volumetric Rejuvenation

Volumetric hand rejuvenation of the dorsal hands is increasingly applied for aged, skeletonized dorsal hand skin, with prominent veins, tendons, and joints due to volumetric loss of subcutaneous fat. However, the aging process of the fatty laminae remains unexplored. The aim of this study was to investigate the impact of aging and potential determinants on the fatty laminae to improve the therapeutic effect of volumetric injection. This cross-sectional study enrolled 105 Taiwanese participants aged ≥20 years, divided into 5 decade-based age groups. A single blinded practitioner measured the thicknesses of the dorsal superficial lamina (DSL), dorsal intermediate lamina (DIL), and dorsal deep lamina (DDL) by ultrasonography. The potential determining factors of the laminae thickness (age, sex, BMI, and hand dominance) were analyzed. The thicknesses of the 3 laminae decreased with age, with the mean decrease in thickness from the 20s to >60 years of the DSL, DIL, and DDL being 0.21 mm (30.0%), 1.38 mm (63.89%), and 0.31 mm (20.95%), respectively. The decrease in DIL thickness was the greatest and most significant in subjects aged >30 years. Multiple linear regression analysis showed age to be the only determinant of thickness for the 3 laminae (all P < 0.001), although the DIL was significantly thicker in men (P < 0.001). Volumetric fat loss was noted in the 3 fatty laminae of dorsal hands during aging; the DIL showed the greatest progressive fat loss after the age of 30. Volumetric rejuvenation of the 3 laminae may result in the most aesthetic appearance, especially in women.

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. We reviewed our patients with G6PC3 deficiency diagnosed along the last decade in Mexico; we also searched the PubMed/Medline database for the terms ('G6PC3 deficiency' OR 'Dursun syndrome' OR 'Severe congenital neutropenia type 4'), and selected articles published in English from 2009 to 2020. We found 89 patients reported from at least 14 countries in 4 continents. We describe five new cases from Mexico. Of the 94 patients, 56% are male, 48% from Middle East countries and none of them had adverse reactions to live vaccines; all presented with at least 1 severe infection prior to age 2. Seventy-five per cent had syndromic features, mainly atrial septal defect in 55% and prominent superficial veins in 62%. With a total of 94 patients reported in the past decade, we delineate the most frequent laboratory and genetic features, their treatment and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

Morphology, biological and chemical profiling of three Polyscias species, endemic to Mauritius

The aim of the study is to screen the morphological, anatomical, biological, and chemical profiles of the leave extracts of endemic Polyscias species namely P. dichroostachya (PD), P. gracilis (PG), and P. mauritiana (PM) from Mauritius. The morphology and anatomy of the leaves were studied using a microscope. Phytochemical screening of extracts using LC-MS/MS was carried out by ionization in both positive and negative modes. The leaves are pinnately compound, hypostomatic, dorsiventral, with a prominent mid vein with secretion cavities, and they can be distinguished by their midrib shape and anatomy. From the molecular mass and fragmentation data, 31 terpenoid saponins, 19 flavonoids, 17 acids, 7 terpenes, and 10 miscellaneous compounds including pyrrolidines and acetylenes in different extracts (hexane, ethanol, and aqueous) were identified. Extracts from the three species using DPPH radical scavenging activity exhibited good to moderate antioxidant activities with IC50 values in the range of 2.1-70.8 mg/ml and the ethanolic extract of PD showing the highest activity. Aqueous extracts of PG and PM potently inhibited alpha-glucosidase with IC50 values of 0.50 and 2.62 mg/ml. The different leaf extracts exhibited moderate activity against a panel of gram-positive and gram-negative bacteria. This is probably the first report on the extensive chemical profiling and morphology of these endemic Polysias spp. from Mauritius and the results indicate that these leaf extracts have beneficial health properties and are thus worth exploiting further.

Controls on Barite Mineralization in a Major Intracontinental Shear Zone: Carboniferous of the Cobequid Highlands, Nova Scotia

Prominent veins of late Carboniferous barite, associated with fluorite and calcite, outcrop close to older granite plutons along an intracontinental shear zone that was active throughout the Carboniferous in southeastern Canada. Some barite is stratigraphically constrained to younger than 315 Ma and final mineralization is constrained by a published Rb–Sr isochron of 300 ± 6 Ma. Barite occurrences in the Carboniferous basins of central Nova Scotia, 50 km to the south, are synchronous with or post-date ankerite-siderite-magnetite-pyrolusite and Pb-Zn mineralization, which was facilitated by fluid interaction with thick evaporites. This study aims to determine controls on the distribution of barite in the shear zone, from field relationships, vein petrography and isotope geochemistry of minerals. The isotope chemistry of shear zone barite is similar to that occurring in Pb-Zn-Mn-Ba mineralization to the south, suggesting a common origin. Veins of barite, associated with fluorite, represent the youngest and regionally coolest phase of a 70 Ma history of Carboniferous mineralized veins along the Minas Fault Zone. Their prominence close to granite plutons reflects brittle deformation of the deeply-rooted granites in a complexly deforming fault zone, but the origin of abundant F remains uncertain.

How can we assess severity and treatments in frontal fibrosing alopecia?

British Journal of DermatologyVolume 185, Issue 6 p. e204-e204 Plain Language Summary How can we assess severity and treatments in frontal fibrosing alopecia? First published: 17 December 2021 https://doi.org/10.1111/bjd.20791AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Linked Article: Olsen et al. Br J Dermatol 2021; 185:1221–1231. Frontal fibrosing alopecia (FFA) is one of the most common causes of permanent or scarring hair loss. This distressing condition may affect both sexes and all races, although it is most common in post-menopausal white women. The cause of this hair loss condition is unknown, although there may be a genetic susceptibility and hormonal factors may be important. The associated inflammation in the scalp occurs at the level of where the hair follicle stem cells reside, leading to permanent loss of the follicle and the hair shaft that it produces. Classically there is slowly progressive hair loss affecting the front of the scalp and the temples often with redness and scaling around the follicle openings. Some patients notice itching or burning at the involved sites. Eyebrow hair loss occurs in almost 90% of individuals and can precede the scalp hair loss. To date, treatment is usually with antinflammatory topical and systemic agents and anti-androgens but clinical trials assessing the effectiveness of each treatment are currently lacking. In this paper, an international team of experts in hair disorders from 21 countries sought to obtain a consensus agreement on the criteria for diagnosing and assessing the severity of FFA. Each recommendation needed at least 90% agreement from authors for acceptance. A point scoring method that includes clinical features as well as features seen on biopsy (where a small section of tissue is removed for testing) allows for two categories of FFA – those with the typical hairline recession and those who may present with some of the alternate findings first. Other clinical features that are frequently seen with FFA are tiny yellowish or skin-coloured bumps (papules) on the face and prominent veins on the forehead and they are included in a staging recommendation that captures all of the main clinical features. The authors also propose a method of assessing the degree of hair loss or regrowth after treatment through measuring hair density across the affected scalp before and at set timepoints in follow-up after treatment. Recommendations for a quality of life tool to assess patient response to treatment is also noted. The authors hope these guidelines will allow the collection of accurate and reproducible clinical and laboratory data, providing the means to both determine the cause of FFA, and to assess the safety and effectiveness of treatment. Volume185, Issue6December 2021Pages e204-e204 RelatedInformation

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

BackgroundX-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or only mildly anaemic. XLSA is usually characterized by microcytic erythrocytes (reduced mean corpuscular volume (MCV)) and hypochromia, along with increased red cell distribution width. However, in females with XLSA the characteristic laboratory findings can be dimorphic and present with macrocytic (elevated MCV) in addition to microcytic red cells.Case presentationWe report a case of fetal anaemia, presenting in the early third trimester of pregnancy, in a female fetus. Ultrasound findings at 29 weeks were of cardiomegaly, prominent umbilical veins, a small rim of ascites, and mean cerebral artery peak systolic velocity (PSV) value above 1.5 Multiples of the Median (MoM). She underwent non-invasive prenatal testing that determined the rhesus genotype of the fetus to be rhesus B negative. No red blood cell antibodies were reported. Other investigations to determine the underlying cause of fetal anaemia included microarray comparative genomic hybridization, serology to exclude congenital infection and a peripheral blood film and fetal bilirubin to detect haemolysis. The maternal grandmother had a history of sideroblastic anaemia diagnosed at the age of 17 years. The mother had mild macrocytic anaemia with haemoglobin of 10.4 g/dl and MCV of 104 fl. The fetal anaemia was successfully treated with two in utero transfusions (IUTs), and delivery occurred via caesarean section at 37 weeks of gestation. The red cell gene sequencing in both the mother and fetus were heterozygous for an ALAS2 mutation causing in utero manifestations of XLSA. The haemoglobin on discharge to the local hospital at five days of age was 19.1 g/dl. Subsequently, the infant became anaemic, requiring regular 3–4 monthly blood transfusions and demonstrating overall normal development. Her anaemia was unresponsive to pyridoxine.ConclusionsThis is one of four cases reporting multiple female members presenting with discordant clinical features of XLSA from being entirely asymptomatic to hydropic in utero. Our report is novel in that there are no previous cases in the literature of anaemia in a female fetus heterozygous for ALAS2 mutation.

C10. An ultra-rare case of Hutchinson–Gilford progeria syndrome with severe aortic regurgitation due to bicuspid aortic valve in a 9-year-old girl

Abstract Background Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare autosomal dominant that result in progressive premature aging syndrome. Cardiovascular diseases become the main cause of mortality including myocardial infarction, interstitial myocardial fibrosis, hypertension and calcification of the mitral and aortic valves. However, the relationship between HGPS and bicuspid aortic valve (BAV) has not been documented yet. Case Summary A 9-year-old girl with HGPS presented to the outpatient clinic with a complaint of shortness of breath since 5 years ago, especially when she did moderate physical activity. Chest pain and palpitation were denied. Her physical examination revealed short stature, thin, wrinkled skin, craniofacial disproportion with alopecia, shrunken facies and prominent scalp veins. There was failure to thrive and diastolic murmur grade 2/4 is heard on the aortic area. Laboratory test showed leukocytosis. Transthoracic echocardiogram showed severe aortic regurgitation due to calcified bicuspid aortic valve and mild mitral regurgitation. She was managed by conservative therapy because her parents were still considering the aortic valve repair procedure. Discussion The HGPS patient with severe aortic regurgitation due to BAV should be managed to reduce cardiovascular complications. Aortic valve repair is an interesting alternative to replacement managing aortic regurgitation due to BAV in young adults. Recently, advanced science about BAV disease and refinement of surgical techniques improved standardization of BAV repair procedure.

C10. An ultra-rare case of Hutchinson–Gilford progeria syndrome with severe aortic regurgitation due to bicuspid aortic valve in a 9-year-old girl

Abstract Background Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare autosomal dominant that result in progressive premature aging syndrome. Cardiovascular diseases become the main cause of mortality including myocardial infarction, interstitial myocardial fibrosis, hypertension and calcification of the mitral and aortic valves. However, the relationship between HGPS and bicuspid aortic valve (BAV) has not been documented yet. Case Summary A 9-year-old girl with HGPS presented to the outpatient clinic with a complaint of shortness of breath since 5 years ago, especially when she did moderate physical activity. Chest pain and palpitation were denied. Her physical examination revealed short stature, thin, wrinkled skin, craniofacial disproportion with alopecia, shrunken facies and prominent scalp veins. There was failure to thrive and diastolic murmur grade 2/4 is heard on the aortic area. Laboratory test showed leukocytosis. Transthoracic echocardiogram showed severe aortic regurgitation due to calcified bicuspid aortic valve and mild mitral regurgitation. She was managed by conservative therapy because her parents were still considering the aortic valve repair procedure. Discussion The HGPS patient with severe aortic regurgitation due to BAV should be managed to reduce cardiovascular complications. Aortic valve repair is an interesting alternative to replacement managing aortic regurgitation due to BAV in young adults. Recently, advanced science about BAV disease and refinement of surgical techniques improved standardization of BAV repair procedure.