Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of recurrent leg ulceration associated with alpha-thalassaemia (haemoglobin H disease) is reported. It is suggested that leg ulcers occurring in the thalassaemic syndromes may be due to structural changes in the affected red cells which result in increased cell rigidity, decreased deformability and consequent diminished blood flow in capillary beds that are subjected to venous stasis.
Br J Dermatol 1978 Feb
PMID:Leg ulcers in alpha-thalassaemia (haemoglobin H disease). 62 79

Four patients had thalassemia and leg ulcers. In three patients the hematologic diagnosis of thalassemia had not been previously made; the presenting symptom was the leg ulcer. The diagnosis of thalassemia should be considered in patients who have unexplained chronic leg ulcers; the incidence of this complication of thalassemia may be higher than previously reported.
Arch Dermatol 1977 Nov
PMID:Ulcers of the leg in thalassemia. 93 95

A family is presented in which the proposita, affected with thalassaemia major, developed a chronic leg ulcer at the age of 14 years. Her eldest brother, not affected with thalassaemia, had a transient leg ulcer at the age of 18 years and a second brother, affected with thalassaemia minor, developed leg ulcers when aged 15 years. Al three siblings were glucose-6-phosphate dehydrogenase deficient.
Br J Dermatol 1976 Aug
PMID:Leg ulcers in a family with both beta thalassaemia and glucose-6-phosphate dehydrogenase deficiency. 95 59

Eight patients with beta thalassaemia major suffering from leg ulcers, were treated over an 8-week period with 3 g ascorbic acid daily in a controlled double-blind crossover study. The ulcers of all the patients showed a high rate of either complete or partial healing.
Br J Dermatol 1975 Mar
PMID:High dose ascorbic acid in the management of thalassaemia leg ulcers--a pilot study. 109 27

An attempt is made to organize our current knowledge about genetically determined disorders of keratinized tissue, which primarily affect the epidermal structural proteins. Type I defects are those involving a change in a single amino acid and are analogous to sickle cell anemia. Type II defects are associated with abnormal retention of a normal structural protein intermediate. Type III defects are related to alterations in the normal post-translational cross-linking seen in keratinized tissues. Type IV defects are associated with altered proportions of fibrous proteins and are analogous to thalassemia. In type V defects, primary genetic disorders of other tissues profoundly affect keratinization in a secondary fashion. Examples from genetic disorders of the hair and epidermis are used to build this conceptual scheme.
Arch Dermatol 1976 Mar
PMID:Molecular mechanisms of genetic disorders of keratinization. 125 51

A case of porphyria cutanea tarda occurring in association with beta-thalassaemia minor is reported in a 33-year-old Northern-Irish woman. Aetiological factors in this case included oral and parenteral iron therapy for refractory anaemia which was subsequently diagnosed as beta-thalassaemia minor, and the use of an oestrogen-containing oral contraceptive pill.
Br J Dermatol 1992 Oct
PMID:Beta-thalassaemia minor and porphyria cutanea tarda. 135 69

Graft-versus-host disease (GVHD) is an immunologically mediated disease occurring most frequently after allogeneic bone marrow transplantation. The aim of this study was to evaluate the contribution of immunohistochemistry in the diagnosis of cutaneous GVHD. Patients transplanted for either leukemia or beta-thalassemia were included in the study. Skin lesions of acute and chronic GVHD were examined both by direct immunofluorescence to detect immunoglobulin deposits and by an avidin-biotin-peroxidase complex technique to evaluate the inflammatory cell infiltrate. Epidermal and dermal fluorescent bodies (IgG and IgM) were frequently found in both acute and chronic GVHD. Most of the infiltrating cells were CD3+ T lymphocytes, with CD8+ cells representing the major cell population invading the epidermis both in acute GVHD and in chronic lichenoid GVHD. A small proportion of the dermal cells were CD14+ macrophages; no B cells were detected. HLA-DR, but not HLA-DQ antigens, were variably expressed by keratinocytes in all cases of acute GVHD and in chronic lichenoid GVHD. KL-1, a monoclonal antikeratin antibody specific for the 56.5 KD acidic polypeptide usually present in suprabasal keratinocytes, stained all epidermal layers, including the basal layer. Langerhans cells were dramatically reduced in number in the epidermis of both acute and chronic lichenoid GVHD. It is concluded that immunohistologic analysis may be supportive in the diagnosis of acute and early chronic lichenoid cutaneous GVHD.
J Dermatol 1991 Jun
PMID:Immunohistochemistry of cutaneous graft-versus-host disease after allogeneic bone marrow transplantation. 193 60

Twenty-five patients with overt clinical and biochemical findings of porphyria cutanea tarda took part in a study comparing intensive phlebotomy with slow subcutaneous desferrioxamine treatment. Fifteen male patients (Group A) had intensive venesection therapy. Ten patients (Group B) with associated diseases (minor thalassemia, cardiovascular impairment, pulmonary tuberculosis or severe liver cirrhosis) received 1.5 g of desferrioxamine by slow subcutaneous infusion using an automatic syringe pump 5 days a week. No patient complained of appreciable side effects. Serum iron, ferritin and uroporphyrins were normalized in all subjects by the end of treatment. The mean time necessary for complete recovery was 13.8 months (range 9-19) and 11.2 months (range 6-14) in Groups A and B, respectively. Liver function significantly improved during and after the treatments in both groups. We conclude that recovery from porphyria cutanea tarda can be achieved equally well using phlebotomy or desferrioxamine subcutaneous infusion. Phlebotomy is easily performed and remains the treatment of choice; slow subcutaneous desferrioxamine treatment, although expensive, is recommended when severe associated diseases contra-indicate venesection.
Br J Dermatol 1986 May
PMID:Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion. 371 53

Hydroxyurea is commonly used in the treatment of various myeloproliferative disorders. In conventional pediatric clinical practice, its use is limited to benign hematologic conditions such as sickle cell disease and thalassemia. Long-term hydroxyurea use is associated with various adverse mucocutaneous effects including hyperpigmentation, alopecia, leg ulcers, and lichenoid eruptions. We report a 10-year-old boy with chronic myelogenous leukemia who presented with hyperpigmentation of the skin and nails 3 months after the start of hydroxyurea therapy. Melanonychia of all 20 nails with involvement of all three mucocutaneous areas (skin, nails, and mucosa) at presentation was a unique feature in our patient. With the recently increasing pediatric use of hydroxyurea in a variety of disorders, its benign and not so uncommon cutaneous adverse effects are emphasized here.
Pediatr Dermatol
PMID:Cutaneous manifestations of hydroxyurea therapy in childhood: case report and review. 1507 51

Although the cutaneous effects of hydroxyurea have been described for patients with sickle cell anemia, myeloproliferative disorders, and psoriasis, there are no reports of cutaneous adverse effects from hydroxyurea when used for patients with intermediate thalassemia. Therefore 43 patients with intermediate thalassemia treated with hydroxyurea were examined by a dermatologist, and pertinent cutaneous findings were recorded. These patients had received hydroxyurea for a mean of 15.5 months. Nineteen had cutaneous hyperpigmentation, eight had xerosis, and three were found to have one cafe au lait macule each. Eleven patients had nail abnormalities, including nail ridging, partial leukonychia, and longitudinal melanonychia. There were no cases of leg ulceration. It was concluded that the risk of developing leg ulcers and pigmentary disorders appears to be related to the underlying disease being treated, as well as to a patient's age, gender, and pigmentation.
Pediatr Dermatol
PMID:Cutaneous adverse reactions to hydroxyurea in patients with intermediate thalassemia. 1557 45


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