Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The past five years have seen numerous advances in the field of pediatric infectious diseases, and many of these have a substantial impact on the practice of dermatology. We review some of these advances and discuss their implications on etiology, diagnosis, therapy and complications of some relatively common conditions. The etiologic agent of exanthum subitum (roseola infantum) has been clearly implicated as a herpesvirus-6. Although in the classically described situation high fever in a young child is followed by defervescence and rash, two new scenarios have been described associated with this virus. The first is fever without rash and the second is rash without fever. The etiologic agent of erythema infectiosum ("slapped cheek") has been shown to be a human parvovirus B19. The virus has also been associated with aplastic crises (in hemoglobinopathies), hydrops fetalis, and a syndrome of subacute arthralgias in women. The etiologic agent in cat-scratch disease has recently been shown to be a small pleomorphic bacillus that also can produce pyogenic granuloma-like lesions in patients with acquired immunodeficiency syndrome. The number of cases of congenital syphilis, particularly in large cities, is increasing tremendously. Many of these infants have received no prenatal care because of drug abuse problems in their parents. Finally, we describe the changing etiology of impetigo that is predominantly associated with Staphylococcus aureus. We further describe the growing resistance to erythromycin and several new erythromycin drug-drug interactions.
J Am Acad Dermatol 1991 Mar
PMID:Recent advances in pediatric infectious diseases and their impact on dermatology. 206 33

Numerous reports describe osteonecrosis after oral corticosteroid therapy. It is still uncertain if corticosteroid treatment alone or in combination with other factors leads to the development of this condition. The literature presents controversial clinical and experimental data. The most affected site for osteonecrosis is the femoral head and therefore our considerations are concentrated at this site. Oral corticosteroids are commonly used in dermatology, especially in the treatment of connective tissue diseases and hypersensitive diseases. This clinical review evaluates the relationship between and the onset of femoral head necrosis. Although osteonecrosis of the femoral head can be caused by various conditions such as trauma, excess alcohol and hemoglobinopathies, studies indicate that treatment with corticosteroids is the most common cause of the condition. There is some controversy on the role of underlying disease and total corticosteroid dose administered, in the development of osteonecrosis of the femoral head. MRI scans are used to establish an early diagnosis. There are several surgical and nonsurgical options for disease management, dependent on the stage of disease, the age of the patient and other risk factors. In general, the risk for osteonecrosis is considered to be low under oral corticosteroid therapy. So far, no data can establish a direct relationship, but data still strongly suggest an existing cause and effect relationship. Further investigations are necessary for example, a large controlled prospective long-term study, to further refine an association between the corticosteroid dose, the duration of treatment and other risk factors. Dermatologists who prescribe oral corticosteroids, should always be aware of the potential risk of avascular femoral head necrosis and the patients should be informed about this severe complication of oral coricosteroid therapy.
Am J Clin Dermatol 2001
PMID:Relationship between systemic corticosteroids and osteonecrosis. 1177 Mar 92

Chronic cutaneous ulcers are commonplace in the developing world, especially in rural areas with poor living conditions and often result from the trauma of road-traffic injuries. Chronic cutaneous ulcers may also be due to vascular insufficiency, neuropathy, nodular leprosy, pressure, diabetes, or hemoglobinopathies, or they may be tropical ulcers. If poorly managed, these lesions may undergo malignant transformation. We evaluated the clinical histories and treatment outcomes of patients seen at the University of Calabar Teaching Hospital, between January 2000 and December 2004, who had histologic diagnosis of Marjolin's ulcer, in an attempt to identify risk factors for this problem. The six patients were men, age 30-70 years (mean, 42 years). Trauma was the leading cause of injury leading to ulceration: road-traffic accidents (four patients, 66.7%), fall (one patient, 16.7%), and flame burn (one patient, 16.7%). Most injuries involved the limbs: lower (four patients, 66.7%) and upper (one patient, 16.7%). The histologic diagnosis in all the cases were squamous cell carcinoma and mean latency period from injury to diagnosis of malignancy was 18.5 years. All the patients had been admitted because of poor results from topical treatment. Three patients (50%) were managed with wide excision and skin grafting with the lesions healed. Ignorance as well as economic and sociocultural factors were the underlying issues. Education concerning the risks associated with chronic wounds and the need for prompt and proper surgical management are recommended.
Int J Dermatol 2007 Oct
PMID:Marjolin's ulcer: the importance of surgical management of chronic cutaneous ulcers. 1795 27

Pseudoxanthoma Elasticum (PXE) is an autosomal recessive, multisystem disorder affecting connective tissues. We describe three cases of the acquired PXE-like syndrome that often occurs in association with hemolytic anemias, in particular the hemoglobinopathies, and review the literature on the subject. The pathogenesis of the acquired PXE-like lesions is not yet completely understood. None of the mutations observed in the inherited form has been detected in the syndrome accompanying thalassemia. The cardiovascular complications could be life-threatening. Therefore, an close surveillance of these patients is mandatory.
Dermatol Online J 2009 Jul 15
PMID:Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update. 1990 35

A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ.
Pediatr Dermatol 2019 Jan
PMID:Classic pseudoxanthoma elasticum in a girl with sickle cell disease. 3053 62