Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five cases of early-onset gouty arthritis are presented, with roentgenographic abnormalities evident in the first two decades of life. Three patients suffered from "primary" gout; classification of the other two patients was difficlut because of associated mental retardation, hypothyroidism and psoriasis. Radiographic alterations included soft-tissue masses and calcification, with typical erosive abnormalities and predilection for the hands and feet. The sacroiliac joints were abnormal in two patients.
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PMID:Early-onset gouty arthritis. 120 73

Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high-resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.
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PMID:X-linked mental retardation associated with psoriasis: a new syndrome? 317 53

A new case of epidermodysplasia verruciformis (EV) is reported in a 35-year-old man characterized by multiple common warts, flat warts, psoriasis-form lesions, and pityriasis-versicolor-(PV) like lesions. There was no familial history, no mental retardation, and no malignant changes. Human papilloma virus type 8 was identified in PV-like lesions. Immunologic studies detected no abnormalities: Delayed skin tests, DNCB sensitization, levels of immunoglobulins, complement components, circulating immune complexes, number of circulating lymphocytes, lymphocyte membrane markers, proliferative responses to mitogens, Ts activity, and Ts subpopulations as detected by monoclonal antibodies were considered to be within normal limits. A treatment with a retinoid aromatic (RO 10-9359) improved the clinical status of the patient and did not modify the immune parameters.
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PMID:Epidermodysplasia verruciformis induced by a new human papillomavirus (HPV-8). Report of a case without immune dysfunction. Effect of treatment with an aromatic retinoid. 629 5

Three unrelated children (one girl and two boys) have had since birth a syndrome characterized by a permanent skin rash which becomes more intense during flare-ups associated with fever, lymphadenopathy, splenomegaly, and arthritis symmetrically involving the large joints. In one boy, typical psoriasis was observed at age 3 years. In two patients, roentgenograms of the joints showed early patellar ossification and an abnormal epiphyseal appearance. The three children also had neurologic involvement, with mental retardation, enlarged head circumference, eye lesions, late closure of the anterior fontanel, and a chronic meningitis with infiltration by polymorphonuclear cells. No immunologic abnormalities were found, but polymorphonuclear cells infiltrated the skin, lymph nodes, synovial fluid, and CSF.
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PMID:Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. 725 69

About 10 Thai collodion babies were treated at the Department of Pediatrics, Faculty of Medicine, Chulalongkorn University from 1970 to 1990. Most of them were premature and small for gestational age infants. The sex incidence of males to female was 3:2. Only half of the cases had a family history of ichthyosis. The severity of thickness and tightness of the collodion membranes varied from mild to severe. The clinical and histopathologic findings revealed 5 cases of lamellar ichthyosis (50%), of which one case had episodes of pustular psoriasis. One case evolved to be ichthyosis vulgaris 10 per cent, one case had palmoplantar hyperkeratosis (10%), one case had been apparently normal up to 18 years old, one died of respiratory infection and another case was lost from follow-up. All cases of lamellar ichthyosis were associated with mental retardation with some degree of slow physical development. One severe collodion baby suffered from congenital absence of distal phalanges of toes with increased thickness of the finger nails.
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PMID:Collodion baby: the out-come of long-term follow-up. 822 89

Acrodermatitis enteropathica (ADE) is a rare genetic or acquired disorder of hypozincemia. It can be caused by impaired intestinal absorption of zinc or by poor consumption of the mineral. It is characterized by skin lesions on acral and periorificial areas and may be associated to alopecia, diarrhea and increased frequency of infections. We present an atypical presentation of ADE in a 33-year-old women with a history of mental retardation and psoriasis that presented with lesions on the periorificial areas and extremities, and low plasma zinc levels.
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PMID:Acquired acrodermatitis enteropathica: case report of an atypical presentation. 1751 78

Down syndrome (DS) is the most common chromosomal disorder and a major cause of mental retardation. Down syndrome phenotype is complex and may present a combination of dysmorphic features, congenital heart disease and immunological deficiency. Psoriasis it has been noted to be 0.5%-8% in patients with DS and numerous factors can limit the use of therapeutic options, in particular long-term organ-specific toxicity, and the risk of opportunistic infections. It is still debated whether the use of biologics in the treatment of DS-related psoriasis is safe. We have valuated the efficacy and safety of ustekinumab treatment in-patient with DS suffering from plaque type psoriasis. A 31-year-old patient suffering from plaque type psoriasis since the age of 14, showed a PASI score of 12 after the failure of anti-TNF agents. We switched the patient to ustekinumab treatment at the standard dose of 45 mg subcutaneously initially and 4 weeks later, followed by 45 mg every 12 weeks. The patient showed a significant improvement of the PASI score already after 4 weeks of treatment and further improvements were observed throughout the treatment. We report the first case of DS-correlated psoriasis patient treated for a long-term period with various biologics, showing a satisfactory safety profile undergoing treatment. In our experience, ustekinumab has demonstrated a high efficacy, relatively rapid onset of action, favorable safety profile, and can be considered a good treatment option even after failure to respond to other biologic therapies in patient with DS.
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PMID:Ustekinumab for treatment of plaque psoriasis in a patient with Down syndrome. 2285 49

Hypomelanosis of Ito is a rare neurocutaneous syndrome. Cutaneous involvement is characterised by streaks and swirls of hypopigmentation arranged in a Blaschkoid pattern. Neural involvement along with other systemic features are seen. We report a case of a 13-year-old boy who presented with the characteristic skin involvement of hypomelanosis of Ito, mental retardation, teeth abnormalities and gynaecomastia along with psoriasis.
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PMID:Hypomelanosis of Ito with gynaecomastia and dental anomaly. 2998 87