TaoMedAI/RareMedData huggingface dataset:
Acquired arginine vasopressin deficiency (ORPHA:95626)
A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.
Epidemiology
The prevalence is unknown.
Clinical description
It occurs equally in both sexes and in all age groups but most often has an onset around the ages of 10-20. Symptoms include polyuria, polydipsia, usually associated with weight loss, and nocturia.
Etiology
Acquired CDI is secondary to a condition damaging the central nervous system or it is idiopathic (unknown etiology). Causes that lead to damage of the hypothalamus-neurohypophyseal brain region include head trauma (resulting from an accident or surgery), congenital abnormalities (pituitary stalk interruption syndrome (PSIS, see this term), infections (meningitis, encephalitis), autoimmune disorders (primary hypophisitis, see this term) and inflammatory (sarcoidosis and Wegener's granulomatosis, see these terms) or neoplastic (germinoma, meningioma, Langerhans cell histiocytosis, craniopharyngioma (see these terms), Rathke cleft cysts and metastasis). Up to 50% of CDI cases are idiopathic and the cause is unknown but autoimmunity is suspected to be involved in a number of them.

                            Last update: 
                            July 2012


                            - Expert reviewer(s): 
                            Dr Stefano GHIRARDELLO
Acquired Creutzfeldt-Jakob disease (ORPHA:454700)
A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).
Acquired cystic disease-associated renal cell carcinoma (ORPHA:404514)
A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease (ORPHA:158057)
A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.
Acquired hypertrichosis lanuginosa (ORPHA:2221)
A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.
Acquired ichthyosis (ORPHA:454)
A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.
Acquired idiopathic sideroblastic anemia (ORPHA:75564)
A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.
Epidemiology
In Europe, the incidence of new cases of RARS is estimated at around 1 per 100,000 people per year but precise values are not available. Incidence increases with age by a factor of around 10 in those aged 70 and over.
Clinical description
It occurs mainly in elderly people or people of late middle age at a rate that varies somewhat around the world.
Etiology
The cause is not known. It appears to be a clonal disorder arising from a haemopoetic stem cell abnormality but is not associated with any particular cytogenetic change except for a few reports of chromosomal rearrangements involving Xq13.
Diagnostic methods
Diagnosis requires examination of both blood and bone marrow, investigation into possible secondary acquired causes and careful attention to any family and clinical history that would suggest an inherited type of sideroblastic anaemia (see these terms).
Differential diagnosis
RARS can be separated from other categories of MDS by the presence in the bone marrow of more than 15% of ringed sideroblasts in the erythroid cells, an absence of dysplasia in the other cell lineages and a low percentage of myeloid blasts (<5%).
Management and treatment
Treatment is mainly supportive and directed towards alleviating the symptoms of anaemia and avoidance or treatment of iron overload that results from any blood transfusion. Regular full blood count monitoring is important.
Prognosis
The risk of transformation to leukaemia is low (between 5 to 10% at 10 years in those with a normal karyotype and no dependence on blood transfusion) compared with other groups of MDS (for example 50% at 8 months in the group with thehighest risk), and the prognosis is good. Life expectancy in those over 70 years of age with RARS may be no different to that of the general population. The development of bi-lineage or multi-lineage dysplasia, the emergence of cells which are karyotypically abnormal, or an increased dependency on blood transfusions herald a worse prognosis and may indicate more vigorous intervention.

                            Last update: 
                            May 2008


                            - Expert reviewer(s): 
                            Dr Ala AL-SABAH  - Dr Alison MAY
Acquired kinky hair syndrome (ORPHA:37559)
A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.
Acquired methemoglobinemia (ORPHA:464453)
A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.
Acquired prothrombin deficiency (ORPHA:26348)
A rare hemorrhagic disorder characterized by decreased factor II plasma levels in association with severe liver disease, vitamin K deficiency, or vitamin K antagonist treatment, or in the context of other conditions such as systemic lupus erythematosus, primary antiphospholipid syndrome, or infections. Patients present with increased bleeding tendency leading to easy bruising, frequent nosebleeds, hemorrhaging after surgery or trauma, and heavy menstrual bleeding, among others. Joint bleeding is uncommon.
Acquired pseudoxanthoma elasticum (ORPHA:228247)
A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.
Acquired purpura fulminans (ORPHA:49566)
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans.
Acral peeling skin syndrome (ORPHA:263534)
A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Epidemiology
Acral PSS is rare, the prevalence is unknown. Few cases have been described in the literature.
Clinical description
The disease manifests shortly after birth or in early childhood with superficial painless peeling on the palmar, plantar and dorsal surfaces of the hands and feet, that leaves residual erythema. Superficial blisters may be seen. Palmoplantar skin may also be hyperkeratotic. Seasonal variations are generally observed. Heat, humidity, occlusion, exposure to water and friction or minor trauma can induce exfoliation. The lesions are usually not painful and heal without scarring but a burning sensation may be experienced before or after peeling.
Etiology
Some cases result from mutations in the TGM5 gene or CSTA gene, encoding, respectively, transglutaminase-5 (one of the three transglutaminase isoforms involved in the cross-linking of the cornified cell envelope) or cystatin A (a protease inhibitor crosslinked to the cornified envelope).
Diagnostic methods
Clinical presentation is highly suggestive of the disease. Histological examination of skin lesion biopsies reveals tissue separation at the stratum granulosum-stratum corneum junction. Molecular analysis, if performed, may reveal a mutation in TGM5 or CSTA.
Differential diagnosis
Differential diagnosis includes epidermolysis bullosa simplex, keratolytic winter erythema, exfoliative ichthyosis, keratolysis exfoliativa, fungal infection (dermatophytes), psoriasis and dyshidrosis.
Antenatal diagnosis
The disease is not severe enough to justify prenatal screening.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.
Management and treatment
There is no effective treatment. Emollients are often used to reduce skin peeling. Patients must avoid immersion in water and are recommended to use absorbing powders or aluminum antiperspirants.
Prognosis
Life expectancy is normal. No significant impairment in quality of life is reported.

                            Last update: 
                            January 2023


                            - Expert reviewer(s): 
                            Dr Nathalie JONCA  - Pr Juliette MAZEREEUW-HAUTIER | ERN-Skin*


                                * European Reference Network
Acral persistent papular mucinosis (ORPHA:90396)
A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.
Acral self-healing collodion baby (ORPHA:281127)
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.
Epidemiology
Only 2 cases were described in the literature.
Clinical description
In both cases, the babies healed soon after birth.
Etiology
In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.

                            Last update: 
                            January 2012


                            - Expert reviewer(s): 
                            Pr Juliette MAZEREEUW-HAUTIER
Acro-renal-mandibular syndrome (ORPHA:958)
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
Acro-renal-ocular syndrome (ORPHA:959)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.
Acrocapitofemoral dysplasia (ORPHA:63446)
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Epidemiology
It has been described in 5 individuals in 2 families.
Clinical description
Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.
Etiology
Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.
Genetic counseling
The condition is transmitted as an autosomal recessive trait.

                            Last update: 
                            February 2011
Acrocephalopolydactyly (ORPHA:221054)
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Acrocraniofacial dysostosis (ORPHA:949)
A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
Acrodermatitis continua of Hallopeau (ORPHA:163931)
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
Acrodysplasia scoliosis (ORPHA:2956)
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Acrofacial dysostosis, Catania type (ORPHA:1786)
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.
Acrofacial dysostosis, Kennedy-Teebi type (ORPHA:64542)
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
Acrofacial dysostosis, Palagonia type (ORPHA:1787)
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.
Acrofacial dysostosis, Weyers type (ORPHA:952)
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Acrofrontofacionasal dysostosis (ORPHA:1784)
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Epidemiology
Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil.
Clinical description
The cranio-facial malformations are numerous and variable. They include brachycephaly or microbrachycephaly, prominent forehead with low frontal and occipital hairline, wide anterior fontanel, hypertelorism, large philtrum, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Other skeletal malformations are also present, with syndactyly of fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, coloboma of the upper lids, cataract, congenital glaucoma and iris atrophy. In some male patients, hypospadias, with or without cleft glans, and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration (without any corpus callosum abnormality). Encephalocele may occur.
Etiology
The etiology of acro-fronto-facio-nasal dysostosis is unknown.
Genetic counseling
Autosomal recessive transmission is probable.

                            Last update: 
                            April 2012
Acrogeria (ORPHA:2500)
A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.
Acrokeratoelastoidosis of Costa (ORPHA:38)
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.
Acrokeratosis verruciformis of Hopf (ORPHA:79151)
A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.
Acromelanosis (ORPHA:39)
A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.
Acromelic frontonasal dysplasia (ORPHA:1827)
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Acromesomelic dysplasia, Grebe type (ORPHA:2098)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.