TaoMedAI/RareMedData huggingface dataset:
Pre-Descemet corneal dystrophy (ORPHA:293462)
Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.
Epidemiology
The prevalence of this rare entity is unknown.
Clinical description
Onset is usually after 30 years of age but cases have been reported in children as young as 3 years of age. Opacities have a variety of shapes. Large lesions can occur. The rest of the cornea is normal. Various subforms appear to exist but are not clearly defined. Most show progression, while the punctiform and polychromatic pre-Descemet subform is non-progressive.
Etiology
The etiology is unknown; it is unclear whether PDCD is a hereditary or a degenerative disorder.
Genetic counseling
No defnite pattern of inheritance has been identified.
Management and treatment
The deep corneal stroma and Descemet membrane can be stripped. The epithelium and superficial corneal stroma should not be excised.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Preaxial polydactyly-colobomata-intellectual disability syndrome (ORPHA:2921)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.
Precursor B-cell acute lymphoblastic leukemia (ORPHA:99860)
A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.
Precursor T-cell acute lymphoblastic leukemia (ORPHA:99861)
A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.
Predisposition to invasive fungal disease due to CARD9 deficiency (ORPHA:457088)
A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.
Predisposition to severe viral infection due to IRF7 deficiency (ORPHA:574918)
A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.
Preeclampsia (ORPHA:275555)
A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
Premature closure of the arterial duct (ORPHA:95486)
Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.
Prenatal benign hypophosphatasia (ORPHA:247638)
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
Epidemiology
The prevalence of prenatal benign hypophosphatasia (PB-HPP) is not known. About 50 cases have been reported to date.
Clinical description
PB-HPP may be identified on prenatal ultrasound examination. Patients manifest variable limb shortening and bowing and often have dimples overlaying long bones deformities. Postnatally, skeletal manifestations slowly resolve and patients eventually develop manifestations corresponding to other, non-lethal forms of HPP (either childhood-onset, adult hypophosphatasia or odontohypophosphatasia). Patients display progressive improvement of the skeletal anomalies and mineralization during the third trimester of pregnancy and after birth. Mothers of affected infants generally have biochemical evidence of hypophosphatasia but no clinical manifestations.
Etiology
Mutations in the ALPL gene (1p36.12) are known to cause hypophosphatasia. The specific mechanisms underlying PB-HPP have not been elucidated.
Diagnostic methods
Diagnosis may be suspected pre- or postnatally on radiological and clinical presentation, respectively. However, it is likely that many patients go undiagnosed until later on when they present with another form of HPP (childhood, adult or odonto HPP). Genetic testing confirms the enzyme deficiency.
Differential diagnosis
Antenatally, the main differential diagnoses include osteogenesis imperfect and perinatal lethal HPP. PB-HPP is differentiated from the perinatal lethal form by normal chest and abdominal circumference in utero and a benign post-clinical course.
Antenatal diagnosis
The disorder may be suspected on prenatal ultrasound findings of limb bowing, limb shortening and/or skeletal hypomineralization. Chest and abdominal circumference are typically normal. A family history of hypophosphatasia and/or genetic testing support diagnosis.
Genetic counseling
Autosomal recessive and autosomal dominant patterns of inheritance have been reported, explaining the wide clinical spectrum. AD inheritance appears to be predictive of a benign course. A significant part of PB-HPP cases are dominantly inherited and seem to display a maternal bias of transmission, the fetus being affected only when the mutation is of maternal origin.
Management and treatment
Cesarean section may be indicated where diagnosis is not confirmed. Management is with observation. Enzyme replacement therapy with recombinant alkaline phosphatase may be indicated where skeletal manifestations persist.
Prognosis
The prognosis is generally good.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Severine BACROT  - Dr Etienne MORNET
Prenatal-onset spinal muscular atrophy with congenital bone fractures (ORPHA:486811)
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
Prepubertal anorexia nervosa (ORPHA:525738)
A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.
Pressure-induced localized lipoatrophy (ORPHA:90160)
Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.
Primary acquired pure red cell aplasia (ORPHA:98872)
A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.
Primary adult heart tumor (ORPHA:874)
A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.
Primary anetoderma (ORPHA:228272)
Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
Primary autoimmune enteropathy (ORPHA:522037)
A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.
Primary basilar invagination (ORPHA:2285)
A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome (ORPHA:562639)
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.
Primary bone lymphoma (ORPHA:314684)
Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.
Primary CD59 deficiency (ORPHA:169464)
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
Primary central nervous system lymphoma (ORPHA:46135)
Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.
Primary ciliary dyskinesia-retinitis pigmentosa syndrome (ORPHA:247522)
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.
Primary condylar hyperplasia (ORPHA:477781)
A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.
Primary congenital hypothyroidism without thyroid developmental anomaly (ORPHA:95714)
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.
Epidemiology
Thyroid dyshormonogenesis accounts for 10-15% of permanent congenital hypothyroidism (see this term) while TSH receptor mutations cause less than 5%.
Etiology
It may be caused by either resistance to thyroid stimulating hormone (TSH) as a result of TSH receptor mutations or by inborn errors of thyroid hormone synthesis, also known as thyroid dyshormonogenesis (see these terms), and it results in permanent thyroid hormone deficiency that is present from birth.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Primary congenital hypothyroidism (ORPHA:226295)
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Epidemiology
Prevalence is estimated at 1/2,000-1/4,000.
Etiology
Primary congenital hypothyroidism may be due to a developmental anomaly, also known as thyroid dysgenesis where the thyroid gland fails to develop normally, or may occur without a developmental anomaly as a result of an inborn error of thyroid hormone biosynthesis, also known as dyshormonogenesis, or as a result of thyroid-stimulating hormone (TSH) receptor mutations (see these terms). In iodine sufficient countries, 85% of permanent congenital hypothyroidism is due to thyroid dysgenesis. The remaining 10-15% of cases can be attributed to dyshormonogenesis or to defects in peripheral thyroid hormone transport, metabolism or action. Primary congenital hypothyroidism may also be idiopathic (see this term).

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma (ORPHA:178528)
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.
Primary cutaneous amyloidosis (ORPHA:137807)
A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.
Primary cutaneous anaplastic large cell lymphoma (ORPHA:300865)
Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.
Epidemiology
The prevalence of primary C-ALCL is unknown but it accounts for approximately 9% of cutaneous lymphomas. The male/female ratio is of 3:2.
Clinical description
Primary C-ALCL generally occurs in adults and rarely in children and adolescents. Large solitary or multiple slow-growing erythematous skin plaques, nodules or tumors develop, in either a localized or multifocal distribution. These lesions may ulcerate and/or itch. In 10% of cases, primary C-ALCL extends beyond the skin to lymph nodes and manifests as a painless swelling, especially in the neck, armpit or groin. It can also extend to extranodal sites. General symptoms, usually present in cases with extracutaneous involvement, include loss of appetite, weight loss, fatigue, and night sweats (B symptoms).
Etiology
Etiology is unknown.
Diagnostic methods
Diagnosis is based on physical examination and medical history, and is confirmed by histopathological and immunohistochemical evaluation of skin biopsies showing cell infiltrates of anaplastic cytology (atypical large cells with abundant cytoplasm, prominent nucleoli, and horseshoe-like or reniform nuclei), within the dermis or subcutis, with constant membrane expression of the CD30 T-cell antigen in the majority (>75%) of neoplastic cells, a variable loss of pan-T antigens (CD2, CD3, CD5), and a lack of expression of epithelial membrane antigen (EMA) and CD15. Additional tests include blood analysis and imagery (PET-scan, CT-scan, MRI) that are used to differentiate the cutaneous from the systemic form.
Differential diagnosis
Differential diagnosis includes lymphomatoid papulosis, metastatic melanoma, squamous cell carcinoma, diffuse large B cell lymphoma and Hodgkin lymphoma (see these terms).
Management and treatment
If lesions are solitary or localized to a single area, excision and/or radiation therapy is performed. If lesions are disseminated in multiple sites on the body, chemotherapy with CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) or CHOP-like regimens constitutes the first-line treatment. Chemotherapy can be combined with autologous stem cell transplantation. Recently, anti-CD30 monoclonal antibody therapy (e.g. brentuximab vedotin) has emerged as a promising alternative therapeutic option.
Prognosis
The prognosis is generally good, with a five-year survival rate of 90%. In 25% of cases, spontaneous regression is observed. Relapses, generally without any extracutaneous dissemination, may sometimes occur (approximately in 30% of cases).

                            Last update: 
                            March 2014


                            - Expert reviewer(s): 
                            Pr Martine BAGOT
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma (ORPHA:178522)
A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.
Primary cutaneous diffuse large B-cell lymphoma, leg type (ORPHA:178544)
A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.
Primary cutaneous follicle center lymphoma (ORPHA:178540)
A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.
Primary cutaneous gamma/delta-positive T-cell lymphoma (ORPHA:178533)
Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.