TaoMedAI/RareMedData huggingface dataset:
Solar urticaria (ORPHA:97230)
A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.
Epidemiology
Exact, prevalence and incidence of solar urticaria are not known. It is reported as representing only 4-8% of all photodermatosis presentations and estimated to account for only 0.4% of all urticarias. To date, more than 650 cases have been described worldwide. Females are predominantly affected.
Clinical description
Wheal formation and pruritus are characteristic, but other manifestations have been reported such as headaches, general malaise, increased heart rate, low blood pressure and syncope. Symptoms almost always clear within 24 hours. The disease can initially appear in all age groups, although it most commonly presents during the third or fourth decade of life. It is a chronic disease requiring long-term treatment. However, some patients (up to 15%) experience spontaneous remissions.
Etiology
The etiology and pathophysiology are not clearly defined; however, the disease may be caused by an antigen-antibody reaction. There are two possible mechanisms, antibodies are either targeted against an abnormal photoallergen which is generated only in patients with SU, or they are targeted against a normal photoallergen generated both in patients and in normal individuals. The immune response involves a photoallergic reaction resulting in histamine release by mast cells.
Diagnostic methods
Phototesting is an important tool for confirming the diagnosis, to assess the responsible wavelengths, the minimal whealing (urticaria) dose (MUD) and the response to therapy.
Differential diagnosis
The major differential diagnoses to be considered include polymorphic light eruption (which generally appears only 2-3 days after sun exposure and lasts more than 24 hours), lupus erythematosus tumidus (which typically occurs more than a week after sun exposure) and erythropoietic protoporphyria, (an inherited disease that may have similar clinical manifestations).
Management and treatment
Treatment is difficult and referral to a specialist is recommended. Treatment recommendations are based on retrospective studies and small case series. They include broad‐spectrum sunscreens, antihistamines, leucotriene receptor antagonist (LRA), UV phototherapy (hardening), azathioprine, ciclosporin, intravenous immunoglobulins and omalizumab. The European consensus is first-line treatment with non-sedative anti-histamines. If the disease is inadequately controlled, treatment is stepwise with increased dose, followed by omalizumab and then ciclosporin.
Prognosis
Therapeutic intervention can significantly improve the quality of life but response is variable. Spontaneous resolution of symptoms may occur in 15% of patients within 10 years. Some patients have to avoid outdoor activities completely, severely impacting their quality of life.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Pr Claes ENK  - Dr Assi LEVI  - Dr Igor SNAST
Solid pseudopapillary carcinoma of pancreas (ORPHA:424065)
A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.
Solitary bone cyst (ORPHA:83468)
A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.
Solitary fibrous tumor (ORPHA:2126)
A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. NAB2-STAT6 gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features.
Solitary necrotic nodule of the liver (ORPHA:100035)
A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
Solitary rectal ulcer syndrome (ORPHA:209964)
Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.
Somatomammotropinoma (ORPHA:314769)
A rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.
Somatostatinoma (ORPHA:97283)
Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.
Epidemiology
The estimated incidence is of 1/40,000,000. Approximately 80 cases of pancreatic SSoma have been reported to date but this is probably an underestimate.
Clinical description
SSomas usually range in size from 3-11cm. Most SSomas present with non-specific symptoms of abdominal pain, weight loss, painless obstructive jaundice and diarrhea. Somatostatinoma syndrome occurs in those with a functioning pancreatic SSoma with manifestations including diabetes mellitus, cholelithiasis, diarrhea, weight loss, steatorrhea and hypochlorhydria. More than half of all SSomas are malignant and they have often metastasized at the time of diagnosis. Duodenal somatostatinoma is often associated with neurofibromatosis type 1 (NF1; see this term).
Etiology
Some SSomas are components of familial endocrine tumor syndromes. The cause of sporadic SSomas is not clear. SSoma hypersecretes stomatostatin, which inhibits the secretion of numerous gastrointestinal hormones (such as gastrin, secretin, insulin, glucagon, and cholecystokinin), resulting in somatostatinoma syndrome

                            Last update: 
                            November 2014


                            - Expert reviewer(s): 
                            Dr Run YU
Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Southeast Asian ovalocytosis (ORPHA:98868)
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
Epidemiology
SAO is common in Southeast Asian and Western Pacific countries (i.e. Thailand, Malaysia, Indonesia, Philippines and Papua New Guinea). SAO is very common in malaria-endemic areas (prevalence 1/20-1/4) but in Europe it is very rare.
Clinical description
SAO can occur at any age. Newborns with SAO might be symptomatic with hemolysis at birth that leads to anemia, pallor or jaundice. Anemia and hyperbilirubinemia in neonates is common together with mild splenomegaly and gallstones. Hemolysis usually disappears in the first three years of life. Adults are asymptomatic or have only minimal hemolytic anemia. Resistance to malaria (see this term) is also noted.
Etiology
SAO results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. Heterozygous mutations for the deletion are found in almost all cases, as homozygosity is thought to be lethal to the developing embryo. A homozygous mutation was recently reported in one case of SAO as the primary cause of extremely severe dyserythropoietic anemia associated with distal renal tubular acidosis (see this term), and that which would have been lethal if the fetus had not been transfused in utero. The association of mutation SLC4A1del27 with other mutations in the SLC4A1 gene may result in distal renal tubular acidosis associated with SAO in some cases.
Diagnostic methods
Diagnosis is based on the presence on a peripheral blood smear of macro-ovalocytes, some of them stomatocytic with more than one stoma, in the absence of hemolysis. Genetic assays can also be used to identify the mutation in the SLC4A1 gene.
Differential diagnosis
Differential diagnosis includes all forms of hereditary elliptocytosis and hereditary spherocytosis, and dehydrated hereditary stomatocytosis (see these terms).
Antenatal diagnosis
Antenatal diagnosis is possible but not undertaken because of the benign nature of the disease.
Genetic counseling
SAO follows an autosomal dominant pattern of inheritance. Genetic counseling is possible.
Management and treatment
Most cases of SAO are asymptomatic and treatment is not necessary.
Prognosis
SAO is not life threatening.

                            Last update: 
                            April 2014


                            - Expert reviewer(s): 
                            Dr Alberto ZANELLA
Spastic ataxia with congenital miosis (ORPHA:1182)
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
Spastic ataxia-corneal dystrophy syndrome (ORPHA:2572)
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.
Spastic ataxia-dysarthria due to glutaminase deficiency (ORPHA:557056)
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.
Spastic paraparesis-deafness syndrome (ORPHA:2815)
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.
Spastic paraplegia-facial-cutaneous lesions syndrome (ORPHA:2819)
A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
Spastic paraplegia-glaucoma-intellectual disability syndrome (ORPHA:2818)
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome (ORPHA:521390)
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.
Spastic paraplegia-nephritis-deafness syndrome (ORPHA:2820)
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
Spastic paraplegia-neuropathy-poikiloderma syndrome (ORPHA:2821)
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder (ORPHA:431320)
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.
Spastic paraplegia-optic atrophy-neuropathy syndrome (ORPHA:320406)
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.
Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Spastic paraplegia-precocious puberty syndrome (ORPHA:2826)
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
Spastic paraplegia-severe developmental delay-epilepsy syndrome (ORPHA:464282)
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome (ORPHA:3011)
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.
Spectrin-associated autosomal recessive cerebellar ataxia (ORPHA:352403)
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
Spermatocytic seminoma (ORPHA:99865)
Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.
Epidemiology
SS accounts for around 1- 2% of all cases of testicular germ cell tumors (see this term). Annual incidence in Europe is 1/3,300,000.
Clinical description
SS presents in males in their fifth to sixth decade of life. A painless mass in the scrotum or an interscrotal mass are indicative of disease. A long-standing hydrocele may be noted causing a feeling of heaviness in the testicle. Gynecomastia and back and flank pain are symptoms that are seen in some patients. The invasion of seminoma into the blood vessels, tunica albuginea and epididymus is rarely seen. In extremely rare instances a sarcomatous transformation can occur which causes the tumor size to rapidly increase along with its propensity for metastasis. In the very few cases that metastasis occurs, this aggressive form of tumor is referred to as metastatic spermatocytic seminoma.
Etiology
The etiology of SS is unknown. It is thought to originate from a premeiotic germ cell.
Diagnostic methods
Clinical findings orientate the diagnosis and measurement of tumor marker levels (alpha-fetoprotein) help in the precision of SS diagnosis. Testicular sonogram is also performed while bone scan and magnetic resonance imaging (MRI) of the central nervous system is only needed when symptoms of involvement in those areas are seen. Histopathological examination of the testicular mass biopsy confirms SS with the presence of three characteristic cell types: small cells (7-8 µm) with dark nuclei, medium sized cells (15 µm) with granular chromatin and eosinophilic cytoplasm in round nuclei and large multinucleated cells (up to 100 µm).
Differential diagnosis
Differential diagnoses include testicular seminomatous germ cell tumors and all types of lymphoma (see these terms).
Management and treatment
Treatment of SS is similar to that of testicular seminomatous germ cell tumors which involves an orchidectomy. As this form of seminoma rarely metastasizes there is usually no further treatment needed but surveillance following surgery is necessary. Patients with the rare metastatic form are given additional chemotherapy (carboplatin) and radiotherapy but no specific treatment regimen has yet been established. Due to cosmetic and psychological reasons, patients may be offered testicular prostheses after an orchidectomy.
Prognosis
The prognosis for SS is very good as once an orchidectomy is performed most patients are cured.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Pr Hans-Joachim SCHMOLL
Spheroid body myopathy (ORPHA:268129)
Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
Spigelian hernia-cryptorchidism syndrome (ORPHA:314432)
Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.
Spina bifida and other spinal dysraphisms (ORPHA:823)
A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.