Fibroadenoma of the vulva with pseudoangiomatous stromal hyperplasia: A common neoplasm in uncommon site.

Mammary-type tissue in the vulva was first described in 1872 but has been rarely reported in the literature. This tissue was previously considered as ectopic breast tissue that occurs as a result of incomplete regression of the milk line. Similar to native breast tissue, ectopic mammary tissue is hormone-sensitive and can develop benign changes, such as fibroadenoma, as well as malignant changes. A more recent theory suggests that these benign and malignant mammary-type entities arise from mammary-like anogenital glands, which constitute normal vulvar components. We report a case of a 41-year-old woman who presented with a chronic asymptomatic cyst on the left vulva that eventually became uncomfortable, especially on standing. The cyst was located on the labium minus, measuring 1.0 × 0.5 cm, with no identified erythema or other skin abnormalities. Excision of the lesion and subsequent microscopic examination showed a circumscribed mass with a nodular overgrowth of epithelial and stromal components, resembling a mammary fibroadenoma with pseudoangiomatous stromal hyperplasia. We bring to attention this rare diagnosis and the importance of considering it in the presence of a vulvar lesion. The malignant and recurrence potential of mammary-type tissue necessitates excision with clear margins and close monitoring of these patients.

Vertebral Angiomatosis in a Dog.

A 3 yr old spayed female Cavalier King Charles spaniel was referred for insidious ataxia and paraparesis. A thoracolumbar lesion was suspected. Computed tomography showed focal osteolysis of the vertebral body and pedicles of T5. In addition, a hyperdense, extradural material within the vertebral canal, causing spinal cord compression on the right side, was present. The lesion was confirmed with magnetic resonance imaging. A T4-T5 hemi-dorsal laminectomy was performed to decompress the spinal cord. Histopathological examination was consistent with vertebral angiomatosis. After the surgery, the dog rapidly improved; however, 5 mo later the clinical signs relapsed. Vertebral angiomatosis is a vasoproliferative disorder, rarely reported as a cause of myelopathy in cats. This condition has not previously been reported in dogs. This case report describes the clinical features, the diagnostic findings, and the follow-up of a young dog with vertebral angiomatosis.

Arterial spin-labeled (ASL) perfusion in children with Sturge-Weber syndrome: a retrospective cross-sectional study.

PURPOSE: Sturge-Weber syndrome (SWS) is a developmental disorder with venous hypertension and associated tissue responses including pial angiomatosis, cortical calcifications, and cerebral atrophy. Arterial spin-labeled (ASL) perfusion is an advanced MR sequence which can assess perfusion, without the need for contrast. We systematically evaluated the potential benefits of using ASL in Sturge-Weber syndrome, to determine the extent of intracranial perfusion abnormality and stage of disease, relevant for prognostication and surgical planning. METHODS: Two pediatric neuroradiologists retrospectively evaluated ASL perfusion imaging of 31 children with confirmed SWS and recorded the presence of hyper-perfusion, hypo-perfusion, or normal perfusion. The presence and distribution of ASL abnormality were compared against the presence and side of atrophy/calcification and pial angiomatosis on standard MR sequences. RESULTS: Thirty-one children (52% female, median age 16.7 months) with SWS had ASL imaging. Seven (23%) had hyper-perfusion, 15 (48%) had hypo-perfusion, and 9 (29%) had no perfusion abnormalities. ASL perfusion abnormality matched the location of SWS findings on conventional imaging in 86% (19/22). ASL demonstrated statistically significant increased perfusion in the early stage of the disease and decreased perfusion when there was atrophy. The parietal lobe was involved in 86% of cases. CONCLUSION: ASL perfusion imaging is an advanced technique which may contribute to earlier diagnosis and more accurate prognostication of Sturge-Weber syndrome, helping guide management and potential surgical planning.

Cutaneous angiomatosis-like presentation in koi carp (Cyprinus carpio koi): Clinical-pathological investigations.

The skin represents an indicator of an animal's health status. Causes of cutaneous diseases in fish most often trace back to biological agents. However, fish skin diseases can also arise from a complex interaction of infectious and non-infectious causes, making it more difficult to identify a specific aetiology. In the period between April and September of the years 2019-2022, four koi carp (Cyprinus carpio koi) from two European countries presented with multifocal, irregularly round, few mm to 1 cm, variably raised cutaneous reddened areas. The fish displayed good general condition. Cutaneous samples, investigated by microbiological and molecular methods and microscopy, did not indicate a primary pathogenic agent. Gross and histological findings of the cutaneous biopsies were consistent with a multifocal/reactive process centred on dermal vessels. The histological features were reminiscent of angiomatosis, a benign proliferative condition affecting the dermal vessels of mammals, including human patients. The clinical-pathological presentation and the dermatologic condition that affected the koi carp are discussed and compared with the veterinary and human literature.

Diffuse cerebral angiomatosis associated to basilar apex aneurysm.

BACKGROUND: Diffuse cerebral angiomatosis (DCA) is a diffuse infiltration of normal brain by complex vascular structures. It differs from arteriovenous malformations (AVMs) that are composed of a nidus of vessels through which arteriovenous shunting occurs without interposed functional brain parenchyma. A rare subgroup of AVMs is diffuse with no recognizable nidus with functional neuronal tissue interspersed within the malformed vessels. We present a rare association of DCA and cerebral arterial aneurysm, which dramatically influenced the patient's prognosis. CASE DESCRIPTION: A 43-year-old male patient with right hemispheric diffuse cerebral angiomatosis presented with a ruptured basilar tip aneurysm that was successfully embolised. Unfortunately, the patient developed a locked-in syndrome. CONCLUSION: The present report shows a possible association between diffuse cerebral angiomatosis and cerebral aneurysms, but this association appears to be less strong than it is with other AVMs.

Clinicopathological Analysis of Sturge-Weber Syndrome with Focal Cortical Dysplasia FCD IIIc.

Objective: To investigate the clinicopathological features of children with Sturge-Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children. Results: The leptomeningeal angiomatosis area was markedly positively correlated with the degree of brain atrophy in 10 children with SWS (r = 0.783, p = 0.007). The distribution of leptomeningeal hemangiomatosis, the degree of cortical calcification, and brain atrophy were not significantly correlated with epilepsy. Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy.

Cutaneous reactive angiomatosis associated with intravascular cryoprotein deposition as the presenting finding in a patient with underlying lymphoplasmacytic lymphoma: A case report and review of the literature.

Cutaneous reactive angiomatosis, a group of disorders defined by benign vascular proliferation, is associated with a number of systemic processes, including intravascular occlusion by cryoproteins. We report a case of a 64-year-old female patient who presented with a 1-year history of nontender petechiae of the bilateral arms and lower legs. Dermoscopic evaluation showed increased vascularity with a globular pattern. Over a period of months, her findings progressed to erythematous to violaceous plaques with admixed hypopigmented stellate scarring of the bilateral lower extremities, forearms, and lateral neck. Biopsy showed increased thin-walled, small dermal blood vessels with focal inter-anastamosis. Some vessels were occluded by eosinophilic globules suspicious for cryoprotein. Subsequent laboratory studies confirmed a diagnosis of type 1 cryoglobulinemia, prompting a bone marrow biopsy that revealed lymphoplasmacytic lymphoma. Herein, we report the fourth case of angiomatosis secondary to intravascular cryoproteins as the initial presentation of an underlying hematologic malignancy. We also present a review of the literature and emphasize the need for thorough initial workup and close and prolonged clinical monitoring for underlying systemic disease in these patients.

Graft-versus-host disease-associated angiomatosis with striking lipomatous metaplasia.

Sclerodermatous graft-versus-host disease (GvHD) is one of the many clinicopathological variants of chronic GvHD. One of the rarest forms of this variant is GvHD-associated angiomatosis (GvHD-AA). We describe the case of a 62-year-old male with sclerodermatous GvHD who presented, in consecutive years, two different lesions that showed characteristics of GvHD-AA. The first lesion fitted perfectly with the previously known features of this rare entity. However, the second lesion was more interesting, as the angiomatoid lesion was surrounded by newly appeared adipocytes, something not previously described. The appearance of this peculiar adipose tissue may be explained as related to an important dermal atrophy, as a concomitant appearance of a lipomatous nevus and GvHD-AA, or, finally, as mature adipose tissue related to a previous inflammatory process, that is, lipomatous metaplasia. Both lesions were diagnosed as GvHD-AA, and the second one was considered to be associated with dermal lipomatous metaplasia. We also considered whether hypoxia could be related to both lesions. In the present report, we review previously published cases of GvHD-AA and discuss the different hypotheses that could explain the appearance of metaplasia associated with the second lesion.

Diffuse dermal angiomatosis: a rare cause of painful ulceration in renal insufficiency.

Diffuse dermal angiomatosis is a rare, benign, reactive cutaneous vascular proliferation that has been reported in the context of end-stage renal failure and can rarely be associated with arteriovenous fistulas. We report a striking clinical resolution following prompt diagnosis and subsequent arteriovenous fistula reversal. This case further demonstrates that accurate diagnosis is particularly rewarding since correct therapeutic approach can be curative.

Unusual Gigantiform Angiomatosis of Jawbone.

ABSTRACT: The purpose of this paper is to highlight rare highly infiltrative massive Angiomatosis and depict surgical outcome of a rare case series of gigantic lesions in the maxillofacial region. Data were recorded from the medical records of patients. Predictor variables were drawn from demographics, age, gender, site, evaluation of surgical treatment. The outcome variables were the challenges encountered and related complications. Out of 6 patients, the youngest was 10 and the oldest was 26 years old. Soft tissue and jawbone involvement were seen in 3 patients each with a single massive lesion involving both maxilla and mandible. All 6 patients had wide excision of the lesion with one patient having 2 stage procedures. No complications or recurrence was seen at 1-year follow-up. Angiomatosis is a rare and benign lesion in the head and neck region. its diffuse infiltrating nature may give a false malignant picture. it clinically mimics Hemangioma or Arteriovenous (AV) malformation thus requires thorough evaluation and its surgical intervention is challenging as described in this case series because of its magnitude and infiltrative nature.

Bilateral axillary pseudoangiomatous stromal hyperplasia in a premenopausal woman: A case report with imaging findings.

Pseudoangiomatous stromal hyperplasia is a benign proliferative mesenchymal lesion of the breast. To date, only a few cases of axillary pseudoangiomatous stromal hyperplasia with imaging findings have been reported in the literature. Herein, we report a rare case of pseudoangiomatous stromal hyperplasia in both axillae in a previously healthy 46-year-old woman and describe the imaging findings, including ultrasonography and computed tomography findings.

Telangiectasias of the breasts showing diffuse dermal angiomatosis in a patient with diffuse livedo reticularis.

The breasts are a common location for diffuse dermal angiomatosis (DDA) in a context of obesity and macromastia. The typical clinical presentation includes erythematous or purplish plaques, reticulated telangiectasias, and sometimes livedo reticularis, often complicated by painful ulcerations of the breasts. Biopsy usually confirms a dermal proliferation of endothelial cells staining positively for CD31, CD34 and SMAa and negatively for HHV8. We report herein a woman with DDA of the breasts presenting as diffuse livedo reticularis and acrocyanosis, both long-standing and considered idiopathic following extensive investigations. Since a biopsy of the livedo did not document DDA features in our case, we suggest that our patient's livedo reticularis and telangiectasias could constitute a vascular predisposition for DDA, as its pathogenesis frequently involves an underlying disease involving ischemia, hypoxia, or hypercoagulability.

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi-allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD-EU register database and an in-house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi-allelic variants in NHLRC2. Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.

Rare mimic of angiosarcoma: Erythema ab igne with reactive angiomatosis.

Erythema ab igne is an uncommon physical dermatosis that presents with localized patches of reticulated erythema and hyperpigmentation corresponding with the underlying dermal venous plexus. The rash occurs in response to chronic heat exposure that does not meet the threshold for thermal burn of the skin. The histopathologic findings are characterized by atrophy and thinning of the epidermis, focal hyperkeratosis, and keratinocyte atypia. The dermis displays dilated capillaries, evidence of pigment incontinence, and prominent elastotic material. We report a case of a 65-year-old male who presented to his primary care physician with a 1-year history of reticular erythema and hyperpigmentation with focal ulceration on his right lateral leg. Histopathology on biopsy revealed mild hyperkeratosis and focal epidermal atrophy; however, the most striking finding was a proliferation of dermal vascular spaces lined by pleomorphic endothelial cells and numerous mitotic figures, which was morphologically compatible with angiosarcoma. However, clinicopathologic correlation and immunostaining revealed an actual diagnosis of erythema ab igne with reactive angiomatosis. Reactive angiomatosis-morphologically mimicking angiosarcoma-is a rarely reported feature of severe erythema ab igne, and dermatopathologists should be aware of this possibility to avoid misdiagnosis of erythema ab igne as angiosarcoma.

Asymptomatic Skeletal Cystic Angiomatosis May Be Managed Conservatively With Close Observation.

Cystic angiomatosis (CA) is a rare disease characterized by the proliferation of vascular and lymphatic channels lined by a single layer of endothelial cells. CA may present with isolated skeletal or visceral disease. There is no consensus for the standard of care in these patients, and diverse regimens for CA have been reported, including observation, surgery, radiation, and a variety of medical therapies. We present a case of multifocal, isolated skeletal CA, treated with close observation alone and review the literature. We suggest that these cases may be safely followed without intervention and may be stable for prolonged periods of time.

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.

BACKGROUND: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improved the diagnostic yield, elucidating previously unexplained RP causes and new genotype-phenotype correlations. The objective of this study was to reevaluate a previously reported family affected by Coats'-type RP without genetic diagnosis and to describe the new genetic findings. CASE PRESENTATION: Cohort, prospective, and single-center observational family case. Three individuals of a family, consisting of a mother and four sons, with a Coats phenotype were revaluated after 25 years of clinical follow-up using visual acuity tests, ophthalmoscopy, Goldmann visual field, electroretinography (ERG), and spectral domain-optical coherence tomography (SD-OCT). Specifically, a RP NGS panel was performed on one member of the family and segregation analysis was required for the other affected and unaffected members. NGS analysis disclosed a RPGR (Retinitis Pigmentosa GTPase Regulator) gene truncating variant segregating with the phenotype in all the three affected members. RPGR mutations are reported as causative of an X-linked RP. CONCLUSIONS: This is the first reported family with a Coats'-type RP associated to a RPGR mutation and segregating as a dominant X-linked disease, confirming the hypothesis of the genetic origin of this condition and expanding the phenotypic spectrum of diseases caused by RPGR gene mutations. The Authors suggest RPGR gene screening mutations in patients presenting this phenotype.

MRI features of pseudoangiomatous stromal hyperplasia with histopathological correlation.

Pseudoangiomatous stromal hyperplasia (PASH), a rare, noncancerous lesion, is often an incidental finding on magnetic resonance imaging (MRI)-guided biopsy analysis of other breast lesions. We sought to describe the characteristics of PASH on MRI and identify the extent to which these characteristics are correlated with the amount of PASH in the pathology specimens. We identified 69 patients who underwent MRI-guided biopsies yielding a final pathological diagnosis of PASH between 2008 and 2015. We analyzed pre-biopsy MRI scans to document the appearance of the lesions of interest. All biopsy samples were classified as having ≤50% PASH or ≥51% PASH present on the pathological specimen. On MRI, 9 lesions (13%) appeared as foci, 19 (28%) appeared as masses with either washout or persistent kinetics, and 41 (59%) appeared as regions of nonmass enhancement. Of this latter group, 33 lesions (80%) showed persistent kinetic features. Masses, foci, and regions of nonmass enhancement did not significantly correlate with the percentage of PASH present in the biopsy specimens (P ≥ .05). Our findings suggest that PASH has a wide-ranging appearance on MRI but most commonly appears as a region of nonmass enhancement with persistent kinetic features. Our finding that most specimens had ≤50% PASH supports the notion that PASH is usually an incidental finding. We did not identify a definitive imaging characteristic that reliably identifies PASH.

The Spectrum of Cutaneous Reactive Angiomatoses in End Stage Renal Failure.

ABSTRACT: Cutaneous reactive angiomatoses encompass a spectrum of conditions driven by underlying occlusive vasculopathy. We present 2 cases of reactive angioproliferation in the context of end-stage renal failure (ESRF) manifesting as painful cutaneous ulceration. The first case demonstrates histologic features of diffuse dermal angiomatosis. The second case illustrates a nonspecific pattern of vascular proliferation which does not conform to any of the classically described subtypes, therefore reinforcing the concept of a spectrum of histopathologic changes in reactive angioproliferations. Diffuse dermal angiomatosis has been described in ESRF alone and in association with calciphylaxis, a life-threatening condition. Recognizing the patterns of reactive angioproliferation in the context of ESRF therefore has clinical relevance. Earlier identification may facilitate mitigation of risk factors and improve prognosis.

Clinical variability in multifocal lymphangioendotheliomatosis with thrombocytopenia: a review of the literature.

Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently recognized disorder characterized by vascular lesions marked by distinct endothelial proliferation. Lesions affect multiple tissues, and MLT can be associated with refractory thrombocytopenia resulting in life-threatening bleeding. Diagnosing MLT may be challenging given its rarity and phenotypic variability. There is no consensus on the optimal management or treatment duration. We report a 4-month-old male who presented with multiple vascular malformations involving the gastrointestinal tract, lung, bones, choroid plexus, and spleen, with minimal cutaneous involvement and no thrombocytopenia. Wedge resection of a pulmonary nodule was strongly positive for lymphatic vessel endothelial hyaluronan receptor 1 favoring MLT despite the lack of thrombocytopenia. The patient's clinical symptoms and vascular lesions improved on sirolimus therapy. We review the literature to highlight the clinical variability of MLT and discuss the diagnostic and therapeutic options for MLT.

Concurrent diffuse dermal angiomatosis and granuloma inframammary adultorum of the breast.

Diffuse dermal angiomatosis (DDA) is a cutaneous reactive angiomatosis. Typically presenting as ulcerated, erythematous, violaceous, or purpuric plaques on the breast or lower extremities, DDA is believed to be a reaction to tissue ischemia. Granuloma inframammary adultorum (GIA) is a type of irritant dermatitis of multifactorial etiology, clinically presenting as papules and nodules. Herein, we report an interesting rash presenting as fungiform papulonodules overlying a large violaceous plaque on the left breast. Biopsy revealed an exuberant epidermal proliferation and a diffuse and deep dermal proliferation, consisting of small slit-like blood vessels in between collagen bundles. In light of these clinical and histopathologic findings in the setting of an indurated plaque on a pendulous breast of a woman with multiple risk factors for local tissue ischemia, a diagnosis of concurrent diffuse angiomatosis of the breast (DDAB) and GIA was rendered. This case highlights the critical importance of clinicopathologic correlation in the diagnosis of multiple diagnostic entities.