TaoMedAI/RareMedData huggingface dataset:
Primary lipodystrophy (ORPHA:90970)
A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).
Epidemiology
Prevalence has been estimated at less than 1 case in 100 000.
Clinical description
In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance are often present: acanthosis nigricans, signs of hyperandrogenism. All lipodystrophies are associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis.
Etiology
Genetic forms of generalized lipodystrophy (or Berardinelli-Seip syndrome, see this term) result, in most cases, from recessive mutations in one of two genes: either BSCL2 coding seipin or BSCL1 coding AGPAT2, an acyltransferase involved in triglyceride synthesis. The origin of acquired generalized lipodystrophy (Lawrence syndrome, see this term) is unknown but the syndrome is sometimes associated with signs of autoimmunity. Partial lipodystrophies can be familial with dominant transmission. Heterozygous mutations have been identified in the LMNA gene encoding nuclear lamin A/C, or in the PPARG gene encoding the adipogenic transcription factor PPARgamma. Some less typical forms of lipodystrophy, associated with signs of premature aging, have been linked to mutations in the LMNA gene or in the ZMPSTE24 gene encoding the protease responsible for the maturation of prelamin A into lamin A. Acquired partial lipodystrophy (Barraquer-Simons syndrome, see this term) is characterized by cephalothoracic fat loss. Its etiology is unknown but mutations in the LMNB2 gene, encoding the lamina protein lamin B2, may represent susceptibility factors. Highly active antiretroviral treatments for HIV infection are currently the most frequent cause of acquired secondary lipodystrophic syndromes.
Diagnostic methods
The genetic diagnosis is performed in specialized laboratories and, in the most severe forms, antenatal diagnosis may be proposed.
Management and treatment
Treatment of diabetes, dyslipidemia and the resulting complications involves the classical intervention strategies. Insulin-sensitizing drugs are useful. Therapeutic trials with recombinant human leptin in patients with very low leptin levels have reported good results with respect to the metabolic and liver alterations.
Prognosis
The prognosis is linked to the precocity and severity of the diabetic, cardiovascular and liver complications.

                            Last update: 
                            April 2007


                            - Expert reviewer(s): 
                            Pr Jacqueline CAPEAU
Primary lymphedema (ORPHA:77240)
Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.
Primary lymphoma of the conjunctiva (ORPHA:319667)
Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.
Primary mediastinal large B-cell lymphoma (ORPHA:98838)
A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.
Primary melanoma of the central nervous system (ORPHA:252050)
Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.
Primary membranoproliferative glomerulonephritis (ORPHA:54370)
A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (ORPHA:306558)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
Primary non-essential cutis verticis gyrata (ORPHA:357225)
A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).
Primary non-gestational choriocarcinoma of ovary (ORPHA:289356)
Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.
Primary oculocerebral lymphoma (ORPHA:279897)
Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.
Primary pediatric heart tumor (ORPHA:875)
Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.
Epidemiology
Primary cardiac tumours are rare in paediatric practice with a prevalence of 1.7/1000 to 28/1000 in autopsy series. In contrast, the incidence of cardiac tumours during foetal life has been reported to be approximately 1.4/1000. The incidence of cardiac metastases associated with all types of malignant tumours is estimated to be approximatively 1% (and is 10-20 times higher than primary malignancies of the heart).
Clinical description
The vast majority of primary cardiac tumours in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary tumours are malignant. In adults, however, the frequency and type of cardiac tumours in adults differ from those in children with 75% being benign and 25% being malignant. Myxomas are the most common primary tumours in adults constituting 40% of benign tumours. Sarcomas make up 75% of malignant cardiac masses. Rhabdomyoma is the most common cardiac tumour during foetal life and childhood. It accounts for more than 60% of all primary cardiac tumours. The manifestations of a cardiac tumour in foetal life include arrhythmia, congestive heart failure, hydrops, and not infrequently stillbirth. In postnatal life cardiac tumours may lead to cyanosis, murmur, respiratory distress, myocardial dysfunction, valvular insufficiency, arrhythmias, and sudden death.
Diagnostic methods
Echocardiography, Computing Tomography (CT) and Magnetic Resonance Imaging (MRI) of the heart are the main non-invasive diagnostic tools. Cardiac catheterisation is seldom necessary. Tumour biopsy with histological assessment remains the gold standard for confirmation of the diagnosis.
Management and treatment
Surgical resection of primary cardiac tumours should be considered to relieve symptoms and mechanical obstruction to blood flow. Patients with primary cardiac malignancies may benefit from palliative surgery but this approach should not be recommended for patients with metastatic cardiac tumours. Surgery, chemotherapy and radiotherapy may prolong survival.
Prognosis
The outcome of surgical resection in symptomatic, non-myxomatous benign cardiac tumours is favourable. The prognosis for malignant primary cardiac tumours is generally extremely poor.

                            Last update: 
                            March 2007


                            - Expert reviewer(s): 
                            Dr Joseph DE GIOVANNI  - Dr Jonathan PARSONS  - Dr Orhan UZUN  - Dr Gordon VUJANIC  - Dr Dirk WILSON
Primary peritoneal carcinoma (ORPHA:168829)
Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).
Epidemiology
PPC accounts for about 10% of pelvic serous carcinomas.
Clinical description
It is almost exclusively found in women. PPC can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor appears during adulthood with a mean age at diagnosis of 60 years. Clinical features include abdominal swelling, constipation, gastrointestinal disorders, nausea, vomiting, anorexia and weight loss. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.
Etiology
Primary peritoneal carcinoma has an epithelial origin and probably derives from coelomatic embryonal epithelium. The fallopian tubes are suspected as the primary site. Women with breast cancer type 1 (BRCA1) gene mutations present an increased risk of developing a PPC.
Diagnostic methods
Diagnosis is based on elevated cancer markers, with elevated cancer antigen 125 (CA125), and on imaging examinations such as ultrasound and chest-abdominal computed tomography (CAP-CT). Diagnosis is confirmed by biopsies performed during laparotomy or laparoscopy, especially when ovaries are normal or absent.
Differential diagnosis
The main differential diagnosis is epithelial ovarian cancer. PPC and serous ovarian carcinoma are histologically similar, and it is often impossible to determine the organ of origin at late stages when the ovaries, abdominal cavity and fallopian tubes are all involved.
Management and treatment
Management should be multidisciplinary and must be discussed by a panel of physicians in a specialized center. There are currently no validated recommendations on clinical management and no cytotoxic agents have been granted a European Marketing Authorization (MA) in this indication. Combination of cytoreductive surgery (visceral resections and peritonectomy procedures) with hyperthermic intraperitoneal chemotherapy (HIPEC) (off-label use) has been considered in specific patients (i.e. young patients with good general status and low tumor volume) before or after systemic chemotherapy (off-label use) if the disease does not respond to optimal cytoreductive surgery.
Prognosis
Prognosis is poor, similar to or worse than that of ovarian carcinoma.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Pr Olivier GLEHEN
Primary progressive aphasia (ORPHA:95432)
Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).
Primary progressive apraxia of speech (ORPHA:314566)
Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.
Primary progressive freezing gait (ORPHA:75567)
Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.
Primary pulmonary hypoplasia (ORPHA:2257)
Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Primary renal tubular acidosis (ORPHA:314822)
A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.
Primary Sjögren syndrome (ORPHA:289390)
A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.
Primary syringomyelia (ORPHA:99856)
A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.
Primary tethered cord syndrome (ORPHA:268861)
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.
Primary triglyceride deposit cardiomyovasculopathy (ORPHA:565612)
A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.
Primary unilateral adrenal hyperplasia (ORPHA:231580)
Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
Epidemiology
The prevalence of primary unilateral adrenal hyperplasia is unknown.
Clinical description
PUAH may be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.
Etiology
The etiology of PUAH is not known.
Diagnostic methods
Diagnostic methods include peripheral aldosterone and renin determinations, adrenal venous sampling which makes it possible to differentiate unilateral from bilateral aldosterone hypersecretion, and CT scan showing normal adrenals or unilateral adrenal hyperplasia.
Management and treatment
Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients with PUAH.
Prognosis
Blood pressure is significantly improved in the majority of the patients, but hypertension is cured in only 50% of cases.

                            Last update: 
                            July 2011


                            - Expert reviewer(s): 
                            Pr Laurence AMAR  - Pr Pierre-François PLOUIN  - Dr Olivier STEICHEN
Primitive neuroectodermal tumor of the cervix uteri (ORPHA:213812)
Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.
Primitive neuroectodermal tumor of the corpus uteri (ORPHA:213630)
Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.
PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.
Proboscis lateralis (ORPHA:141099)
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).
Progeria-short stature-pigmented nevi syndrome (ORPHA:2959)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation and short stature, microcephaly, premature aging, bird-like facies with lack of facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and variable intellectual disability. Immunodeficiency and development of tumors have also been described.
Progeroid and marfanoid aspect-lipodystrophy syndrome (ORPHA:300382)
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.