scholarly journals Polydactyly presentations: A case report

2021 ◽  
Vol 2 ◽  
pp. 4
Author(s):  
Michael Bundepuun Ode ◽  
Idumagbodi Amupitan ◽  
David Ghorau Mancha ◽  
Shem Bulus Yilleng
Keyword(s):  
Functional Impairment ◽  
Autosomal Dominant ◽  
Surgical Excision ◽  
Metacarpal Bone ◽  
Incomplete Penetrance ◽  
Variable Expression ◽  
Extra Digit ◽  
Skin Tag ◽  
The Right ◽  
Type V

Polydactyly is a duplication of the digits of the hands or feet. It is a congenital anomaly and can manifest as a single disorder or as a component of a syndrome. It is typically an autosomal dominant inherited condition with variable expression and incomplete penetrance. It is genetically heterogenic being caused by mutations in different genes. It manifests in different forms, based on the position of occurrence of the extra digit. It can occur as a single disorder as a component of a syndrome. Its presentation ranges from just a skin tag to a complete digit with the accompanying metatarsal or metacarpal bone. It can result in functional impairment or it may just be a cosmetically unacceptable digit with no functional impairment. Treatment depends on the nature of the extra digit as well as any functional impairment it may be causing. Surgical excision is employed and various reconstruction procedures are also employed in treatment, and must be well planned out to avoid a worsening of function. We present two cases; a 3-month-old baby girl presenting with a hereditary preaxial polydactyly (PPD) (Wassel type V) of both feet and a 29-year-old man with isolated postaxial polydactyly of the right foot with which was symptomatic.

scholarly journals Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

2021 ◽  
pp. bjophthalmol-2020-318034
Author(s):  
Manickam Nick Muthiah ◽  
Angelos Kalitzeos ◽  
Kate Oprych ◽  
Navjit Singh ◽  
Michaelis Georgiou ◽  
...  
Keyword(s):  
Adaptive Optics ◽  
Autosomal Dominant ◽  
Visual Fields ◽  
Fundus Photography ◽  
Large Field ◽  
Field Pattern ◽  
Cone Dystrophy ◽  
Incomplete Penetrance ◽  
Variable Expression ◽  
Molecular Features

AimTo describe the clinical and molecular features of a novel, autosomal dominant RDH12-retinopathy.MethodsRetrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing, including whole genome sequencing and multimodal retinal imaging including fundus photography, optical coherence tomography (OCT), autofluorescence imaging and adaptive optics (AO) scanning light ophthalmoscopy were performed. Visual electrophysiology was performed in a subset.ResultsEight family members were confirmed as affected by genotyping heterozygous for RDH12 c.763delG. Visual acuity ranged from −0.1 to 0.2 logMAR. Affected individuals had constricted visual fields. A parafoveal and peripapillary ring of hyper-autofluorescence was seen initially, and with progression the area of perifoveal hypo-autofluorescence increased to involve the parafoveal area. Mild retinal thinning was identified on OCT imaging with reduction in both foveal total retinal and outer nuclear layer thickness. Cone densities along the temporal meridian were reduced in affected individuals compared with normative values at all temporal eccentricities studied. One individual with incomplete penetrance, was identified as clinically affected primarily on the basis of AO imaging. Full-field electroretinography demonstrated a rod-cone pattern of dysfunction and large-field pattern electroretinography identified peripheral macular dysfunction.ConclusionsThis novel heterozygous variant RDH12 c.763delG is associated with a rod-cone dystrophy with variable expression. Determination of the degree of penetrance may depend on the modality employed to phenotypically characterise an individual. This rare and specific heterozygous (dominant) variant is predicted to result in a gain of function, that causes disease in a gene typically associated with biallelic (recessive) variants.

Multidisciplinary Approach of a Very Rare Infected Verrucous Carcinoma of the Scrotum

2019 ◽  
Vol 70 (4) ◽  
pp. 1476-1478
Author(s):  
Laura Raducu ◽  
Adelaida Avino ◽  
Cristina-Nicoleta Cozma ◽  
Sorin Nedelea ◽  
Andra-Elena Balcangiu-Stroescu ◽  
...  
Keyword(s):  
Adjuvant Therapy ◽  
Rare Disease ◽  
Chronic Inflammation ◽  
Male Patient ◽  
Multidisciplinary Approach ◽  
Verrucous Carcinoma ◽  
Surgical Excision ◽  
Diagnosis And Treatment ◽  
Wide Surgical Excision ◽  
The Right

Verrucous carcinoma of the scrotum is an extremely rare disease and most cases are thought to result from poor hygiene and chronic inflammation. Currently, it has not been well characterized, the etiology, diagnosis and treatment remaining poorly understood. We present the case of a 50-year-old male patient diagnosed with verrucous carcinoma of the right hemiscrotum. Wide surgical excision was performed. Favorable outcomes can be achieved by surgery, even without any adjuvant therapy, but patients should be carefully followed up.

Hepatic brucelloma: a rare complication of a common zoonotic disease

2020 ◽  
Vol 13 (12) ◽  
pp. e237076
Author(s):  
George Vatidis ◽  
Eirini I Rigopoulou ◽  
Konstantinos Tepetes ◽  
George N Dalekos
Keyword(s):  
Rare Complication ◽  
Surgical Excision ◽  
Coombs Test ◽  
Inflammation Markers ◽  
Laboratory Findings ◽  
Ct Guided ◽  
Rare Manifestation ◽  
Bone Marrow Cultures ◽  
History Of ◽  
The Right

Hepatic brucelloma (HB), a rare manifestation of brucellosis, refers to liver involvement in the form of abscess. A 35-year-old woman stockbreeder was admitted due to 1-month history of evening fever, sweating and weight loss, while she was on 3-week course of rifampicin/doxycycline for suspected brucellosis. On admission, she had hepatosplenomegaly and a systolic murmur, while cholestasis, increased inflammation markers and a strong-positive Wright-Coombs test were the main laboratory findings. As blood and bone marrow cultures were unrevealing, further investigation with CT imaging showed a central liver calcification surrounded by heterogeneous hypodense area being compatible with HB. Material from CT-guided drainage tested negative for Brucella spp. After failure to improve on a 10-week triple regiment, surgical excision was decided and Brucella spp were identified by PCR. Our case highlights challenges in establishing HB diagnosis, which should be considered on the right epidemiological context and when serological and radiological evidence favour its diagnosis.

scholarly journals Intrascrotal lipoblastoma in adulthood

2019 ◽  
Vol 12 (12) ◽  
pp. e231320
Author(s):  
Mário José Pereira-Lourenço ◽  
Duarte Vieira-Brito ◽  
João Pedro Peralta ◽  
Noémia Castelo-Branco
Keyword(s):  
Case Report ◽  
Magnetic Resonance ◽  
S100 Protein ◽  
Surgical Excision ◽  
Large Mass ◽  
Histological Diagnosis ◽  
Physical Exam ◽  
Nodular Lesion ◽  
Inferior Portion ◽  
The Right

This case report describes the case of a 37-year-old man that noticed an intrascrotal right mass with 1 month of evolution. During physical exam presented with a large mass at the inferior portion of the right testicle, clearly separated from the testicle, with a tender consistency and mobile. An ultrasound was performed that showed a solid and subcutaneous nodular lesion, extra testicular, heterogeneous, measuring 7.2 cm. Pelvic magnetic resonance imageMRI showed a lesion compatible with a lipoma. The patient was subjected to surgical excision of the lesion by scrotal access, having histology revealed a lipoblastoma (LB) of the scrotum. Histological diagnosis was obtained by microscopic characteristics (well-circumscribed fatty neoplasm) and immunohistochemistry (stains for CD34, S100 protein and PLAG1 were positive; stains for MDM2 and CDK4 were negative). LB is extremely rare after adolescence in any location, being this first described case of intrascrotal LB described in adulthood.

scholarly journals A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

2021 ◽  
Vol 12 (4) ◽  
Author(s):  
Joanne M. Hildebrand ◽  
Bernice Lo ◽  
Sara Tomei ◽  
Valentina Mattei ◽  
Samuel N. Young ◽  
...  
Keyword(s):  
Potential Role ◽  
Autosomal Dominant ◽  
Inflammatory Diseases ◽  
Diabetic Patients ◽  
Incomplete Penetrance ◽  
Loss Of Function ◽  
Healthy Sibling ◽  
Dominant Disease ◽  
Terminal Effector

AbstractMaturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitution was also present in a healthy sibling. In contrast, a second very rare heterozygous damaging mutation in the necroptosis terminal effector, MLKL, was found exclusively in the diabetic family members. Aberrant cell death by necroptosis is a cause of inflammatory diseases and has been widely implicated in human pathologies, but has not yet been attributed functions in diabetes. Here, we report that the MLKL substitution observed in diabetic patients, G316D, results in diminished phosphorylation by its upstream activator, the RIPK3 kinase, and no capacity to reconstitute necroptosis in two distinct MLKL−/− human cell lines. This MLKL mutation may act as a modifier to the P33T PDX1 mutation, and points to a potential role of impairment of necroptosis in diabetes. Our findings highlight the importance of family studies in unraveling MODY’s incomplete penetrance, and provide further support for the involvement of dysregulated necroptosis in human disease.

Oncocytic Lipoadenoma: Report of 3 Rare Cases Involving the Parotid Gland, Including a Synchronous Presentation With Paraganglioma of the Right Carotid Bifurcation and Literature Review

2021 ◽  
pp. 106689692110219
Author(s):  
John L.S. Cunha ◽  
Marco A. Peñalonzo ◽  
Ciro D. Soares ◽  
Bruno A.B. de Andrade ◽  
Mário J. Romañach ◽  
...  
Keyword(s):  
English Language ◽  
Smooth Muscle Actin ◽  
Salivary Gland Tumor ◽  
Surgical Excision ◽  
Carotid Bifurcation ◽  
Alpha Smooth Muscle Actin ◽  
S 100 ◽  
The Right ◽  
Adequate Management ◽  
Adipose Cells

Oncocytic lipoadenoma (OL) is a rare salivary gland tumor characterized by the presence of oncocytic cells and mature adipose tissue. To date, only 30 cases of OL have been reported in the English-language literature. We present 3 additional OL cases involving the parotid, including a synchronous presentation with paraganglioma of the right carotid bifurcation. Microscopically, both the OLs were composed of a mixed population of oncocytes and adipocytes in varying proportions surrounded by a thin, connective tissue fibrous capsule. Oncocytes were positive for pan-cytokeratins (CKs) AE1/AE3, epithelial membrane antigen, CK5, CK7, CK14, CK18, and CK19. Calponin, p63, alpha-smooth muscle actin, and carcinoembryonic antigen were negative. Vimentin and S-100 protein were positive only in adipose cells. Despite distinctive morphologic features, OL is often misdiagnosed, given its rarity. We hope to contribute to surgeons’ and pathologists’ awareness and knowledge regarding the existence of this tumor and provide adequate management through conservative surgical excision.

Rheology of right ventricular outflow tract obstruction: sub-pulmonary membrane developing months after primary intervention to treat pulmonary atresia with intact interventricular septum

2021 ◽  
pp. 1-4
Author(s):  
Baher M. Hanna ◽  
Wesam E. El-Mozy ◽  
Sonia A. El-Saiedi
Keyword(s):  
Right Ventricular ◽  
Interventricular Septum ◽  
Pulmonary Atresia ◽  
Right Ventricular Outflow Tract ◽  
Rare Condition ◽  
Surgical Excision ◽  
Ventricular Outflow Tract ◽  
Outflow Tract ◽  
Ventricular Outflow Tract Obstruction ◽  
The Right

Abstract Isolated sub-pulmonary membrane is a rare condition, the origin of which has been debatable. Transcatheter treatment of pulmonary valve atresia with intact interventricular septum by radiofrequency perforation and balloon dilatation to restore biventricular circulation is gaining more popularity, with improving results over time. We report in our experience of 79 cases in 10 years the development of a sub-pulmonary membrane in 4 cases: causing significant obstruction requiring surgical excision in one case that revealed a fibrous membrane on pathology; causing mild right ventricular outflow tract obstruction in another and not yet causing obstruction in 2. On cardiac MRI, the right ventricular outflow tract and the right ventricular outflow tract/pulmonary atresia angle showed no morphological abnormalities.

scholarly journals An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Sarantis Blioskas ◽  
Sotiris Sotiriou ◽  
Katerina Rizou ◽  
Triantafyllia Koletsa ◽  
Petros Karkos ◽  
...  
Keyword(s):  
Parotid Gland ◽  
Plexiform Neurofibroma ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Exceptional Case ◽  
Benign Tumors ◽  
First Case ◽  
Superficial Lobe ◽  
The Right ◽  
Auriculotemporal Nerve

Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Imaging localized the lesion to the superficial lobe of the parotid gland, suggesting a neurofibroma. Cosmetic disfigurement and a functional deficit led us to perform complete surgical resection. Meticulous surgical dissection as well as auriculotemporal nerve origin made complete extirpation possible with almost zero morbidity and ensured alleviation of both aesthetic impairment and pain. This is the first case of an intraparotid PN in a pediatric NF-1 patient, which originated from branches of the auriculotemporal nerve and particularly from fibers of the autonomic nervous system. Radical surgical excision was decided according to established decision-making algorithms.

METASTASIS OF AN ADENOCARCINOMA OF THE STOMACH TO THE 4TH METACARPAL BONE

Hand Surgery ◽  
2001 ◽  
Vol 06 (02) ◽  
pp. 239-242 ◽  
Author(s):  
H. C. Chang ◽  
K. H. Lew ◽  
C. O. Low
Keyword(s):  
Metastatic Lesion ◽  
Metacarpal Bone ◽  
Review Of The Literature ◽  
Poorly Differentiated Adenocarcinoma ◽  
Poorly Differentiated ◽  
The Right

Metastatic tumours of the hand are uncommon. The majority of these tumours affect the phalanges and the primary tumours are usually bronchogenic in origin, with breast and kidney tumours next in frequency. Metastatic gastrointestinal to the hand is rare and usually from the colon. We report a case of poorly differentiated adenocarcinoma of the stomach antrum presenting with a metastatic lesion to the right 4th metacarpal bone. A review of the literature is included.

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