TaoMedAI/RareMedData huggingface dataset:
Neutral lipid storage disease (ORPHA:165)
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.
Epidemiology
The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions.
Clinical description
In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract, retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases.
Etiology
NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5).
Diagnostic methods
Biological diagnosis is based on evidence of leukocytes in the vacuoles of neutral lipids and a deficiency in the degradation of cytoplasmic triglycerides in cultured cells (lymphoblasts or fibroblasts), while mitochondrial function (in particular the transport and b-oxidation of fatty acids) is normal. Genetic diagnosis is also possible.
Differential diagnosis
Differential diagnoses include mitochondrial diseases with accumulation of cytoplasmic triglycerides (deficiencies in carnitine, cartinine palmitoly transferase or fatty acid oxidation enzymes; see these terms).
Antenatal diagnosis
Prenatal diagnosis is possible by genetic testing (for mutations in chorionic or amniotic cells) when parental mutations have been identified.
Genetic counseling
Transmission of the disorder is autosomal recessive.
Management and treatment
There is no treatment to correct the metabolic deficiency.
Prognosis
For NLSDI/Dorfman-Chanarin disease, the severity of the disease is linked to the myopathy and any associated disorders (which may include ocular and cerebral involvement). The evolution of the disease varies between patients, but is relatively slow because some patients reach late adulthood.

                            Last update: 
                            March 2007


                            - Expert reviewer(s): 
                            Pr Judith FISCHER  - Dr Anne NEGRE-SALVAYRE  - Pr Robert SALVAYRE
Neutropenia-monocytopenia-deafness syndrome (ORPHA:2690)
Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
NEVADA syndrome (ORPHA:370059)
A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.
Nevus comedonicus syndrome (ORPHA:64754)
A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.
Nevus of Ito (ORPHA:263432)
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
Nevus of Ota (ORPHA:263425)
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
New-onset refractory status epilepticus (ORPHA:363558)
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
Night blindness-skeletal anomalies-dysmorphism syndrome (ORPHA:1390)
A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.
Nijmegen breakage syndrome-like disorder (ORPHA:240760)
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
NIK deficiency (ORPHA:447731)
A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.
NK-cell enteropathy (ORPHA:263665)
Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:527497)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.
NLRC4-related familial cold autoinflammatory syndrome (ORPHA:576349)
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.
NLRP12-associated hereditary periodic fever syndrome (ORPHA:247868)
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.
NMDA receptor encephalitis (ORPHA:217253)
A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.
Nocardiosis (ORPHA:31204)
Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.
Epidemiology
Annual incidence in the United States is estimated at around 1/250,000 inhabitants, but may be underestimated. The exact incidence in Europe is unknown. Men are more frequently affected than women (sex ratio: 3:1).
Clinical description
Nocardiosis may occur in any age group, but it is more common in middle-aged adults. Clinical manifestations depend on the site of infection. Most patients present with pulmonary disease. Frequent signs are fatigue, fever, chills, coughing (similar to the cough in pneumonia or tuberculosis), dyspnea, pleural chest pain, and weight loss. Primary cutaneous nocardiosis may present as cutaneous, lymphocutaneous or subcutaneous infection. Cutaneous infection manifests as cellulitis, pustules, pyoderma, paronychia, ulcerations or localized abscesses. Similar lesions are present with lymphocutaneous infection but are associated with ascending regional lymphadenopathy. Subcutaneous infection manifests as the apparition of mycetoma (see this term), predominantly affecting the extremities. Disseminated nocardiosis typically affects immunocompromised hosts. Lesions in the brain or meninges are frequent.
Etiology
The disease is caused by Nocardia infections. Nocardia is an aerobic, Gram-positive branching filamentous bacteria found in soil, decaying vegetable matter, and aquatic environments. Infection may occur through direct inhalation or inoculation. At least 13 species of Nocardia are reported to cause human disease, with the most frequently identified causes being N. asteroids complex and N. brasiliensis. Nocardiosis is often associated with a patient history of trauma (puncture wounds or cat scratches), immunodeficiency, resistance to previous antibiotic therapy, or fever.
Diagnostic methods
The diagnosis is based on analysis of cultures of the causative organism from the infection site and on identification of Nocardia throughmolecular techniques (RFLP or PCR assays). Chest radiography may also be required.
Differential diagnosis
The differential diagnosis should include tuberculosis, aspergillosis, histoplasmosis, Kaposi sarcoma, sporotrichosis, non-Hodgkin lymphoma (see these terms), lung abscess and pneumonia.
Management and treatment
Management includes antibiotic therapy, in particular with trimethoprim-sulfamethoxazole (TMP-SMX). The duration of therapy (1 to 12 months) depends on the type of Nocardia infection. Surgical resection may be feasible for localized abscesses.
Prognosis
Prognosis is generally favorable, except in cases of disseminated nocardiosis in immunocompromised patients.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr François TREMOLIERES
Nodal marginal zone B-cell lymphoma (ORPHA:86867)
Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.
Nodular cutaneous amyloidosis (ORPHA:137810)
Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögrens syndrome and CREST syndrome (see these terms).
Nodular fasciitis (ORPHA:477742)
A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.
Nodular lichen myxedematosus (ORPHA:90393)
Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.
Nodular neuronal heterotopia (ORPHA:2149)
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.
Nodular non-suppurative panniculitis (ORPHA:33577)
A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.
Epidemiology
Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD) prevalence is unknown. It occurs more often in adult women (approximately 75% of reported cases).
Clinical description
WCD is characterized by single or multiple, tender or painful edematous and often erythematous subcutaneous nodules (1-2 cm large, most often affecting the lower extremities) healing with a depressed scar. The upper extremities, buttocks, abdominal wall, breasts, and face can also be involved. In most cases WCD is associated with fever, malaise, myalgia, arthralgia, and abdominal pain. Nausea, vomiting, weight loss, and hepatomegaly may occur. The disease tends to recur at intervals of weeks or months. WCD can present as a severe systemic illness. Unusual nodule locations include the abdomen (as an abscess), mesentery of the small or large bowel (with bowel obstruction), lungs, heart, liver, spleen, adrenal glands, kidneys, scrotum, and cranium. In patients with systemic disease, morbidity and mortality are significant.
Etiology
Etiology remains unknown.
Diagnostic methods
Histological examination of a subcutaneous nodule is necessary to confirm the diagnosis (the fat lobules are replaced by neutrophils, lymphocytes, and histiocytes in the early stages, and by macrophages and fibrotic tissue later).
Differential diagnosis
Differential diagnosis includes erythema nodosum and erythema induratum of Bazin, which represent the commonest forms of predominantly septal panniculitis and predominantly lobular panniculitis with vasculitis, respectively, as well as a variety of distinctive disease entities associated with panniculitis. The latter comprise bacterial, viral and fungal infections, connective tissue disorders, disturbances of lipid metabolism, pancreatic and renal diseases, gout, lymphoproliferative neoplasia, trauma, alpha1-antitrypsin deficiency (see this term).
Management and treatment
Treatment is symptomatic and supportive and may include systemic steroids and nonsteroidal anti-inflammatory drugs. Responses to fibrinolytic agents, hydroxychloroquine, azathioprine, thalidomide, cyclophosphamide, tetracycline, and cyclosporin A have been reported in some patients.

                            Last update: 
                            March 2007


                            - Expert reviewer(s): 
                            Pr Giovanna ZAMBRUNO
Nodular regenerative hyperplasia of the liver (ORPHA:48372)
A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Non-acquired combined pituitary hormone deficiency (ORPHA:467)
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.
Epidemiology
Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. The incidence of congenital hypopituitarism is estimated to be between 1:3000 and 1:4000 births.
Clinical description
Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty.
Etiology
Congenital hypopituitarism is due to mutations of several genes encoding pituitary transcription factors. Phenotype varies with the factor involved: PROP1 (somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies; pituitary hyper and hypoplasia), POU1F1 (somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph, thyrotroph and gonadotroph deficiencies, limited head and neck rotation) and LHX4 (variable pituitary deficiencies, ectopic neurohypophysis, cerebral abnormalities).
Diagnostic methods
A diagnosis of combined pituitary hormone deficiency (CPHD) must be suspected when evident causes of hypopituitarism (sellar tumor, postsurgical or radioinduced hypopituitarism. . .) have been ruled out. Clinical, biological and radiological work-up is very important to better determine which transcription factor should be screened. Confirmation is provided by direct sequencing of the transcription factor genes.
Genetic counseling
Type of transmission varies with the factor and the mutation involved (recessive transmission for PROP1 and LHX3, dominant for LHX4, autosomal or recessive for POU1F1 and HESX1).
Management and treatment
An appropriate replacement of hormone deficiencies is required. Strict follow-up is necessary because patients develop new deficiencies (for example late onset corticotroph deficiency in patients with PROP1 mutations).
Prognosis
Prognosis is equivalent to patients without pituitary deficiencies if treatment is started immediately when diagnosis is confirmed, and if a specialized follow-up is performed.

                            Last update: 
                            March 2008


                            - Expert reviewer(s): 
                            Pr Thierry BRUE  - Dr Frédéric CASTINETTI
Non-acquired isolated growth hormone deficiency (ORPHA:631)
A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.
Non-acquired panhypopituitarism (ORPHA:90695)
A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.
Non-amyloid monoclonal immunoglobulin deposition disease (ORPHA:86861)
A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.
Non-distal deletion 10q (ORPHA:1581)
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Non-distal deletion 12q (ORPHA:96160)
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.