Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We described a 26-year-old man whose brother has a mottled fundus. Many maternal relatives suffer from myopia and heart disease, and one cousin has arachnodactylia. The patient is very tall and shows various abnormalities such as arachnodactylia, highly arched palate, funnel chest and scoliosis. He also shows hyperextensibility of joints, inguinal hernia, dissecting aneurysm of ascending aorta, dilatation of aortic ring, aortic and mitral insufficiency, myopia and striae distensae. These findings are that of Marfan's syndrome. At the same time, we noticed yellowish papules on the neck, axillae, inguinal region and inner aspect of thighs. Brown patches were found around umbilicus. These skin lesions as well as angioid streaks of fundus are typical for pseudoxanthoma elasticum. This case should be an association by chance of these two genetic affections.
Ann Dermatol Venereol 1979 May
PMID:[Pseudoxanthoma elasticum associated with Marfan syndrome (author's transl)]. 49 13

Sneddon's syndrome consists of livedo reticularis and cerebral vascular accidents with no evidence of systemic disease responsible for the livedo. The syndrome has been assimilated to a subgroup of systemic lupus erythematosus (SLE) with presence of antibodies directed against phospholipids. Recently, a significant increase in the frequency of cardiac valve diseases has been demonstrated in some SLE patients with livedo reticularis, cerebral vascular accidents and antiphospholipid antibodies. We report the case of a 26-year old woman who had been presenting for 6 years with idiopathic livedo reticularis. Her history was remarkable for the occurrence of 2 cerebral ischaemic accidents at the ages of 23 and 26 years, generalized convulsive seizures at 22 years, and hypertension of pregnancy with 2 miscarriages. Biopsy of the livedo showed normal histological patterns, but electron microscopy detected an obliterating endothelial proliferation and endothelial cells with numerous Weibel-Palade bodies. Laboratory signs of SLE, as well as antiphospholipid antibodies were absent. At the age of 26 years, cardiac abnormalities were heard at auscultation for the first time, and echocardiography showed that they were due to a fairly loose mitral stenosis. According to Burton's criteria our patient had all the typical features of Sneddon's syndrome. The finding of mitral stenosis--an emboligenic cardiopathy that is potentially responsible for cerebral vascular accidents--raises the problem of its relationship with Sneddon's syndrome. The association does not seem to be fortuitous, since our case is very similar to the cases of SLE or antiphospholipid antibody syndrome associated with cardiac valve lesions. However, this case is particular in that 6 years after the onset of the disease there was still no sign of SLE and of antiphospholipid antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)
Ann Dermatol Venereol 1990
PMID:[Livedo reticularis, cerebrovascular disorders and mitral disease: a new cause of Sneddon's syndrome?]. 208 86

IgG subclasses differ in their biologic and chemical properties, such as complement fixation, protein and cellular binding, and placental transfer. In this study, IgG subclasses of anti-Ro/SSA antibodies in subacute cutaneous lupus (SCLE) and neonatal lupus (NLE) are examined in the serum and in the skin. IgG subclasses in NLE beginning in utero (NLE-heart disease) are compared to subclasses in NLE beginning after birth (NLE-skin disease). Human skin was grafted onto athymic mice, mice were injected with one of eight anti-Ro/SSA maternal NLE sera (four heart block, four skin disease) or seven anti-Ro/SSA SCLE sera, and grafts were examined for IgG subclasses using monoclonal anti-human IgG subclass reagents in an immunofluorescent technique. Lesional skin was examined from four SCLE patients. IgG1 was the only IgG subclass detected in the grafts and skin lesions. IgG1 was the predominant anti-Ro/SSA IgG subclass detected in SCLE and NLE sera in an ELISA using a synthetic Ro/SSA polypeptide. These studies show that the maternal anti-Ro/SSA autoantibodies in NLE-heart disease sera are predominantly IgG1 and are therefore likely to be present in the fetus at the time of gestation, when heart block usually develops. Second, differences in the clinical presentations of NLE (in utero vs. postnatal disease) cannot be attributed to differences in anti-Ro/SSA IgG subclasses. Finally, the subclass bound in the skin in SCLE is IgG1, a subclass capable of mediating tissue injury via complement or cellular effectors.
J Invest Dermatol 1990 Dec
PMID:IgG subclasses in the serum and skin in subacute cutaneous lupus erythematosus and neonatal lupus erythematosus. 225 Jan 7

The epidemic of AIDS is a terrible and unexpected scourge that strikes persons in the most productive years of their lives and seriously threatens to drain the resources of our health care system. It is also a real risk to health care personnel, who must remember and adhere to universal precautions against blood-borne disease to prevent accidental infection on the job. At the same time they must not in any way deny proper and compassionate care, which all patients deserve, whatever their HIV status. Dermatologists, in particular, must be alert to early signs (often cutaneous) of HIV infection, and must be careful to take precautions against infection because many dermatologic procedures expose them to risk. The hopeful news is that early diagnosis of HIV infection and effective therapy with Zidovudine and other agents may prevent development of symptomatic infection and prolong the lives of HIV-infected patients, perhaps indefinitely. In future, physicians must consider HIV disease a chronic problem to be treated with the same care and attention, in hopes of promoting long-term survival, as diabetes or heart disease.
J Am Acad Dermatol 1990 Jun
PMID:HIV disease, from discovery to management: the major role of the dermatologist. 236 21

The original TORCH complex described clinically similar congenital infections caused by Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus, types 1 and 2. Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections. In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe. Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness, congenital heart disease, retinopathy, and brain calcification. Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation. Localized or disseminated congenital herpes virus infection often involves the central nervous system and the eye. Diagnosis is confirmed by culture and identification of species-specific immunoglobulin M within the first 2 weeks of life. Histological examination contributes to the diagnosis in herpes simplex virus infection. Treatment for toxoplasmosis includes pyrimethamine with sulfadiazine or trisulfapyrimidine; congenital herpes simplex virus infection is treated with acyclovir. No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.
Semin Dermatol 1995 Jun
PMID:TORCH syndrome. 764 Feb

We report familial acanthosis nigricans affecting a 35-year-old woman, her 7-year-old son and 5-year-old daughter. Absence of the eyebrows and eyelashes was noted in this family. The mother had no axillary hair and her pubic hair was sparse. The boy also suffered from congenital heart disease and a congenital cataract in the left eye. The combination of acanthosis nigricans and ectodermal defects in this family may represent a distinct nosological entity.
Br J Dermatol 1995 Jul
PMID:Familial acanthosis nigricans with madarosis. 766 19

We present two patients with subcutaneous fat necroses (SCFN) in whom endocrinologic studies revealed an association with elevated prostaglandin E (PGE) levels. A boy born after prolonged labor complicated by meconium aspiration developed erythematous, indurated plaques over the back, arms, buttocks, and cheeks at 4 days of age. A biopsy specimen of involved skin showed panniculitis with foci of necrotic adipocytes containing radially arranged, needle-shaped clefts and a granulomatous infiltrate in the septae. Laboratory studies revealed hypercalcemia of 13.6 mg/dl (normal 8.8-10.1 mg/dl), elevated 1.25-1.25(OH)2D3, and increased urinary excretion of PGE2. The child was hospitalized and treated with systemic steroids and diuretics, with resolution of SCFN and hypercalcemia. The second patient was a girl born with cyanotic heart disease. A diagnosis of Ebstein anomaly was made, and intravenous PGE1 was started to keep patent the ductus arteriosus. Four days later erythematous, indurated plaques were noted on the knee, back, and anterior chest. A skin biopsy specimen revealed SCFN. There was no associated laboratory abnormality. On discontinuing PGE1, no new lesions formed and the existing panniculitis resolved. These two cases demonstrate the association between SCFN and elevated PGE levels (endogenous in patient 1, exogenous in patient 2). No previous reports of SCFN after the administration of PGE1 have appeared in the literature.
Pediatr Dermatol 1995 Mar
PMID:Subcutaneous fat necrosis, hypercalcemia, and prostaglandin E. 779 19

Pulse steroid therapy (PST) has been used in dermatology to treat a variety of severe inflammatory disorders. Dermatologists have usually recommended that patients be hospitalized for continuous cardiac monitoring during PST administration, although specialists in other fields have administered PST in an outpatient setting. We reviewed the literature concerning serious adverse cardiovascular effects of PST. These were rare and have been mainly reported in nondermatologic patients, typically those with kidney or heart disease. Although outpatient administration of PST may be a safe practice for some dermatologic patients, we cannot make a firm recommendation without a prospective trial.
J Am Acad Dermatol 1994 May
PMID:Severe adverse cardiovascular effects of pulse steroid therapy: is continuous cardiac monitoring necessary? 817 17

Giant cell myocarditis is a rare idiopathic inflammatory heart disease characterized histologically by multinucleated giant cells, and clinically by rapid progressive heart failure, arrhythmias, or sudden death, often within hours to days of initial symptoms. There are two previously reported cases of giant cell myocarditis with idiopathic orbital myositis. We report a similar case in a patient who also had vitiligo, a diagnostic endomyocardial biopsy, and survival because of a cardiac transplant. Giant cell myocarditis should be monitored for in the course of inflammatory orbital myopathy because of its life-threatening fulminant course.
J Am Acad Dermatol 1996 Aug
PMID:Orbital myositis, vitiligo, and giant cell myocarditis. 869 13

We report a 13-year-old girl with extensive striae and an acneiform eruption following surgery for complex congenital heart disease. These findings were associated with elevated serum and urinary cortisol levels with loss of diurnal rhythm. The resolution of the eruption and the fading of her striae coincided in time with normalization of her blood parameters on day 72 postoperatively. We conclude that the cause of steroid excess in our patient was stress induced by the cardiac surgery and a complicated and protracted postoperative course. To our knowledge, this is the first report in the English language literature of skin changes due to endogenous hypercortisolaemia caused by intense physical and emotional stress.
Br J Dermatol 1999 Apr
PMID:Striae and acne following cardiac surgery in a child. 1023 32


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