Bilateral Breast Ochronosis: a Case Report.
Ontology highlight
ABSTRACT:
SUBMITTER: AbdulKarim FAJ
PROVIDER: S-EPMC8340040 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Publications
Bilateral Breast Ochronosis: a Case Report.
AbdulKarim Fatema A J FAJ Ibrahim Safwat M SM Hill Arnold Ad AA Ajmal Nadeem N
JPRAS open 20210618
Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting ...[more]
Similar Datasets
Project description:BackgroundBreast desmoid-type fibromatosis (BDF) is a rare mesenchymal tumor accounting for only 0.2% of solid breast tumors. It is classified as an intermediate tumor because it is locally aggressive but has no metastatic potential. Its diagnosis is often difficult because it shares many clinical and radiologic aspects with breast carcinomas and therefore relies on anatomopathological analysis which may be supplemented by genetic analysis. The treatment of BDF has considerably evolved in the past years. While surgery was the cornerstone of the management prior to the 2000s, recent data have shown the value of active surveillance (AS) from the time of diagnosis. Indeed, after 2 years of AS, the progression-free survival (PFS) of the disease is identical or superior to surgery. Moreover, spontaneous regression has been observed in 30% of patients undergoing AS. In case of disease progression, surgery can be considered on a case-by-case basis, as well as systemic treatments.Case descriptionWe present a case of bilateral BDF affecting a 20-year-old woman for whom the first suggested treatment was bilateral mastectomy with reconstruction. After a second opinion, the decision was revised and AS was initiated. Almost 3 years after the onset of AS, tumors have shown a continuous regression.ConclusionsThis case demonstrates the need for experience in the management of mesenchymal tumors to avoid overtreatment by mutilating surgeries which promote recurrence. Moreover, to our knowledge, very few cases of bilateral BDF have been published to date. It thus seemed relevant for us to report this rare case which supports the interest of AS for DF, as recently advised by the Desmoid Tumor Working Group guidelines.
| S-EPMC9742053 | biostudies-literature
Project description:Purpose of reviewOchronosis and alkaptonuria are manifestations of the same condition-a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In ochronosis, HGA undergoes autoxidation as well as enzymatic oxidation to form an ochronotic pigment that accumulates in cartilage and connective tissues. In the beginning, there is homogentisic aciduria and pigmentation of cartilages and other connective tissues. In later years, generalized osteoarthritis of the spine and large joints, termed ochronotic arthropathy, develops.Recent findingsThe diagnosis is confirmed by quantitative measurement of HGA in urine and mutation analysis of the HGD gene. One of the differential diagnoses for the skin findings is exogenous ochronosis, a limited hyperpigmentation of skin caused by some chemicals. As for the lumbar spine findings, there can be radiographic similarities with ankylosing spondylitis (AS) including reduced intervertebral disc spaces and loss of lumbar lordosis; however, ochronosis will spare the sacroiliac joint, and the lumbar spine will show dense, wafer-like disk calcification with a vacuum disc phenomenon and broad syndesmophytes. Here, we present a case of a patient with probable ochronosis that was treated many years as ankylosing spondylitis without response, and we provide a review of the current literature on ochronosis pathogenesis, diagnosis, and treatment.
| S-EPMC8285993 | biostudies-literature
Project description:BackgroundWhile fibroadenomas are common in the general population, affecting 10-20% of women, they are rarely early-onset, multiple, and bilateral.Case presentationAn 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease. Magnetic resonance imaging (MRI, Fig. 1) of the breasts showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm. Two needle biopsies showed fibroadenoma. Although the patient's family history did not meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing, it was performed due to the rarity of her presentation. Genetic testing identified a pathogenic mutation in the phosphatase and tensin homolog (PTEN) gene.ConclusionsA germline mutation in PTEN is associated with an increased risk of breast cancer and often occurs as part of Cowden Syndrome. This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas.
| S-EPMC8061223 | biostudies-literature
Project description:Introduction and importanceTotal breast reconstruction with autologous fat transfer (AFT) has a low complication rate. Fat necrosis, infection, skin necrosis and hematoma are the most common complications. Infections are usually mild and manifested by a unilateral red painful breast and treated with oral antibiotics with or without superficial irrigation of the wound.Case presentationOne of our patients reported an ill-fitting pre-expansion device several days after surgery. This was due to a severe bilateral breast infection following a session of total breast reconstruction with AFT despite perioperative and postoperative antibiotic prophylaxis. Surgical evacuation was performed in combination with both systemic and oral antibiotic treatment.Clinical discussionMost infections can be prevented in the early post-operative period with antibiotic prophylaxis. If an infection does occur, it is treated with antibiotics or superficial irrigation of the wound. A delay in identification of an alarming course could be reduced by monitoring the fit to the EVEBRA device, implementing video consultations on indication, limiting the means of communication and better informing the patient on what complications to monitor. The recognition of an alarming course following a subsequent session of AFT is not guaranteed after a session without complication.ConclusionBesides temperature and redness of the breast, a pre-expansion device that doesn't fit can be an alarming sign. Patient communication should be adapted as severe infections can be insufficiently recognized by phone. Evacuation should be considered when an infection does occur.
| S-EPMC9958470 | biostudies-literature
Project description:BackgroundAlkaptonuria is a rare congenital metabolic disorder characterized by homogentisic acid accumulation in body cartilage and connective tissues due to a deficient homogentisic acid dioxygenase enzyme. This disorder manifests in various clinical symptoms, including spondyloarthropathy, ocular and dermal pigmentation, genitourinary tract obstruction by ochronosis stones, and cardiovascular system involvement. Cardiac ochronosis is a rare manifestation of alkaptonuria that may present as aortic stenosis, sometimes accompanied by other cardiovascular complications.Case presentationWe report an unexpected case of ochronosis diagnosed during cardiac surgery. Due to the fragile, thin, and atheromatous nature of the ascending aorta in patients with ochronosis, we opted for a sutureless aortic valve replacement procedure. This approach appears to be more suitable for patients with ochronosis.ConclusionsAlthough cardiac ochronosis is rare, surgeons should remain vigilant and consider the possibility of this condition when examining patients with aortic valve stenosis, paying close attention to the clinical manifestations of alkaptonuria.
| S-EPMC11197252 | biostudies-literature
Project description:IntroductionCarcinoma of breast is a heterogeneous disease. Using their light microscopic appearance, the invasive forms are usually divided into three main types: infiltrating lobular carcinomas, infiltrating ductal carcinomas, and other infiltrating carcinomas. This paper aims to discuss and report a case of bilateral invasive ductal carcinoma of the breast.Case reportA 48-year-old female presented with bilateral breast masses of 5-month duration. On examination. she had bilateral palpable breast masses, which were hard, mobile, and irregular. On the right side, there was skin tethering and palpable axillary lymph nodes. Ultrasound examination showed a heterogeneous, irregular, ill-defined, mass-like lesion, seen in the upper outer quadrant of the right breast along with a hypoechoic. irregular mass 12*13mm in the upper outer quadrant of the left breast. FNA showed bilateral invasive ductal carcinoma. Right axillary lymph nodes were positive for adenocarcinoma. She received 4 sessions of NACT which was followed by right-side mastectomy with axillary lymph node dissection and left-side mastectomy with sentinel lymph node biopsy.DiscussionBilateral breast carcinomas are very rare. They form 2-5% of all breast malignancies. About 2-11% of breast cancer patients develop cancer in the opposite breast in their lifetime with an incidence rate varying from 4 to 8 per 1000 people per year.ConclusionBilateral carcinoma of the breast is very rare. Microscopically, the findings usually reveal infiltrative ductal carcinoma. The treatment of choice is bilateral modified radical mastectomy.
| S-EPMC9206930 | biostudies-literature
Project description:A subdural hematoma (SDH) is a type of bleeding in which a collection of blood gathers between the inner layer of the dura mater and the arachnoid mater of the meninges surrounding the brain. Although most cases reported of subdural hematoma are due to traumatic brain injury, to the best of our knowledge this is a rare case of nontraumatic subdural hematoma. A 31 year-old-Male presented to the emergency department with a severe headache for 3 weeks, with the presence of oculomotor disorders. There is no history of major trauma, minor trauma or fights. Also, no history of hypertension, or Haematological diseases. Magnetic resonance imaging (MRI) showed bilateral subdural hematoma. The right-sided hematoma was treated conservatively and the Left-sided was treated by surgery. Follow-up for three months revealed no recurrence. Nontraumatic subdural hematoma is one of the challenging cases that neurosurgeons face. We presented a patient with idiopathic spontaneous subdural hematoma. Computed tomography (CT) is the first step for diagnosis and Magnetic resonance imaging (MRI) is considered an excellent imaging investigation to evaluate such patients. Symptomatic subdural hematomas require an emergent treatment by identifying and controlling sites of bleeding conservatively or by surgery. Subdural hematoma with no history of trauma should be treated emergently and evaluated strictly. Follow-up is essential in patients with neural symptoms. Massive symptomatic subdural hematoma (SDH) should be treated with surgery to control the bleeding.
| S-EPMC8528674 | biostudies-literature
Project description:BackgroundMetastatic neuroendocrine tumours (NETs) to the breast are very rare entities.Case presentationA 26-year-old lady presented with anterior neck swelling with symptoms of superior vena cava syndrome for 6 months. Imaging study revealed a mediastinal mass which was preceded with core biopsy which was consistent with high-grade small cell NETs. Despite second-line adjuvant chemotherapy and radiotherapy, her disease became advanced which was confirmed via restaging scan. There were bilateral breast lesions discovered during the scan which was deemed to be metastatic NETs histologically. Despite prompt initiation of treatment, she succumbed 1 year after the radiotherapy due to disease progression.ConclusionHigh suspicion of an index is needed for diagnosis when patients with known primary NETs present with suspicious breast lesions. Triple assessment is mandatory, however histopathology assessment and immunohistochemistry staining are the mainstay of diagnosis.
| S-EPMC7683178 | biostudies-literature
Project description:BackgroundOcular neuromyotonia (ONM) is characterized by episodic diplopia, which is usually triggered by prolonged eccentric gaze of the affected extraocular muscles. The spell is characterized by involuntary, occasionally painful, sustained contraction of one or more extraocular muscles innervated by the oculomotor, trochlear, or abducens nerve. ONM usually occurs as a late consequence of radiotherapy around the parasellar area, although idiopathic cases have been reported. Most cases are unilateral; however, bilateral ONM has occasionally been described.Case presentationA 60-year-old woman presented with a 4-month history of episodic, painful, horizontal binocular diplopia. She underwent external beam radiotherapy to the skull base for treatment of nasopharyngeal carcinoma. The tumor was well controlled. General neurological examination findings were unremarkable. Neuro-ophthalmic examination revealed normal visual acuity, visual fields, pupils, and fundi. Ocular alignment showed orthotropia with normal ocular motility. Myasthenic eyelid signs were absent. However, she developed episodes of involuntary sustained contraction of the medial rectus muscle following prolonged eccentric gaze toward the affected medial rectus muscle, which resulted in esotropia upon returning to the primary position. The esotropic episodes spontaneously resolved after approximately 2 min. These spells affected both medial rectus muscles. Both pupils remained normal throughout the examination. Magnetic resonance imaging revealed neither brain parenchyma/brain stem lesions nor tumor recurrence. Her symptoms were successfully treated with carbamazepine.ConclusionsEpisodic esotropia in the adducting eye following prolonged horizontal eccentric gaze is a significant characteristic of ONM affecting the bilateral medial rectus muscles (i.e., bilateral oculomotor ONM). In spite of its extreme rarity, ONM should be considered as a differential diagnosis of episodic diplopia, especially in patients with a history of radiotherapy around the parasellar area. Careful examination with prolonged eccentric gaze should be performed to achieve a correct diagnosis and avoid an extensive unnecessary workup.
| S-EPMC6120096 | biostudies-literature
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA