Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018133 (graft-versus-host disease)
 18,032 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report details of a 6 1/2-year-old girl who developed porphyria cutanea tarda after allogeneic bone marrow transplantation for chronic myelogenous leukaemia. The results of studying porphyrin metabolism in the family members are described. Expression of the disease may have been induced by the cyclophosphamide and total-body irradiation in the conditioning regimen and/or by the administration of methotrexate for the prevention of graft-versus-host disease and meningeal leukaemia.
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PMID:Appearance of an inherited porphyria cutanea tarda in a child after allogeneic bone marrow transplantation for chronic myelogenous leukaemia. 333 25

Pseudo-scleroderma should not be confused with true scleroderma, the prognosis of which is unpredictable and often serious. Progressive acrosclerosis must be differentiated from Raynaud's disease, congenital or hereditary disorders of unknown aetiology: Werner's syndrome, acrogeria and progeria; Rothmund-Thomson's syndrome, Steinert's disease, phenylketonuria, disorders of glycogen metabolism; metabolic disorders: mutilating acropathies, scleromyxoedema, porphyria cutanea tarda; occupational and iatrogenic disorders: acroosteolysis, toxic epidermic syndrome (Spain), scleroderma-like change induced by bleomycin, chronic graft-versus-host disease; and leprosy. Acute diffuse scleroderma should not be confused with Buschke's scleroedema, sclerema neonatorum, systemic amyloidosis and scleroderma-like changes in hypothyroidism. Linear pseudo-scleroderma is suggested by the following scleroderma-like conditions: facial hemiatrophy, acrodermatitis atrophicans, melorheostosis, pseudo-scleroderma after corticosteroid injection, and cutaneous lesions in carcinoid syndrome. Scleroderma in plaque must be differentiated from hypodermitis sclerotisans, panatrophy and localized lipoatrophies, hypodermitis after vitamin K injection, basal cell carcinoma, necrobiosis lipoidica, vitiligo, chronic radiodermatitis, cutaneous lymphatic invasion. Scleroderma-like changes after drug injection (vitamin B12, progestin), anetoderma barely resemble morphea guttata.
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PMID:[Pseudoscleroderma and sclerodermiform states]. 624 36

Chronic Myelogenous Leukemia (CML) is an oncohematological disease characterized by a clonal proliferation concerning the primitive hematopoietic cell. A typical cytogenetic alteration known as Philadelphia Chromosome (Ph1), a 9:22 chromosomic translocation which produces a hybrid gene BCR/ABL, is present in 95% of the patients. Nineteen CML patients (9 female and 10 male) underwent Bone Marrow Transplantation (BMT). Median age was 32 years (range 9 to 47); 15 of them were in chronic phase (CP), and 4 in accelerated phase (AP). At diagnosis, all patients were Ph1+, BCR/ABL+. The conditioning regimen consisted of busulphan and cyclophosphamide while patients in AP received etoposide as well. Seventeen patients received cyclosporine A, methotrexate and methylprednisone as prophylaxis for Graft Versus Host Disease (GVHD) while 2 patients received only the first two drugs. The 9.22 translocation was determined by means of RT-PCT technique using the primers NB1+, Abl3, B2A, CA3 and A2. The sensitivity of the method was 1 x 10(-6). Among the 19 patients who entered the protocol, 14 are alive and in clinical, hematological and cytogenetic remission (Ph1-) and 3 patients died due to acute GVHD, 1 due to graft failure and 1 due to Hemolytic Uremic Syndrome. Of the 4 transplanted patients in AP, 3 are alive and in complete remission. The patients had a 74% survival, with a median follow-up of 655 days. Complete hematopoietic chimerism was demonstrated in 16 patients, with the study of 3 loci, D1S80, APO B and D17S30. No relationship was found between post BMT hybrid BCR/ABL (RT.PCR) persistence and disease relapse; the presence of acute and/or chronic GVHD did not influence the BCR/ABL positivity. In our experience, BMT has proved to be the only therapeutic alternative for CML with complete clinical, hematological and cytogenetic remission and a mean survival of 74%, comparable to the international experience.
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PMID:[Bone marrow transplantation in chronic myeloid leukemia]. 1034 11

There are numerous dermatoses which may cause cicatricial alopecia when localized on the scalp, such as chronic discoid lupus erythematosus (DLE), lichen planus, graft-versus-host disease, dermatomyositis, scleroderma, cicatricial pemphigoid, porphyria cutanea tarda, follicular mucinosis, perifolliculitis capitis abscedens, lichen sclerosus et atrophicus, necrobiosis lipoidica, sarcoidosis, etc. Histologically, cicatricial alopecia is characterized by dermal scarring, along with absent or reduced hair follicles and reduced number of erector pili muscles. According to working classification of cicatricial alopecia by the North American Hair Society, primary cicatricial alopecia may be divided into the following categories: lymphocytic group (e.g., DLE, lichen planopilaris, classic pseudopelade (Brocq), central centrifugal cicatricial alopecia); neutrophilic group (e.g., folliculitis decalvans, dissecting cellulitis); and mixed group (e.g., folliculitis keloidalis). Over a 5-year period, 36 patients with cicatricial alopecia were hospitalized at our Department: DLE (n = 27), pseudopelade Brocq (n = 3), mucinosis follicularis (n = 2), and lichen planopilaris, folliculitis decalvans, folliculitis abscedens and folliculitis keloidalis (one patient each). Clinical evaluation was compared with histopathologic analysis of follicular architecture, as well as with the type, localization and extent of inflammatory infiltrate. Scalp biopsy was considered mandatory in all cases. Our experience indicates the need of more complex research to extend the knowledge about the etiopathogenesis and treatment options for cicatricial alopecia. We hope that this type of alopecia may attract more attention and research in the future.
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PMID:Cicatricial alopecia as a manifestation of different dermatoses. 1731 39

Recently, a number of medications approved for nondermatologic use have proved useful against dermatologic diseases. This article reviews the dermatologic uses and effects of deferasirox, bortezomib, dasatinib, and cyclosporine eye drops. Deferasirox--an oral iron chelator--could be an effective treatment against porphyria cutanea tarda, hemochromatosis, and pathogens such as mucor that thrive in iron rich environments. Bortezomib, a proteasome inhibitor and multiple myeloma treatment, may be effective against nodular amyloid and has been effectively used against squamous cell carcinoma; although trials demonstrate it is ineffective against metastatic melanoma. Bortezomib has many cutaneous side effects including erythematous plaques or nodules, a generalized morbilliform erythema with ulcerations and fever, purpuric eruptions, leukocytoclastic vasculitis, Sweet's syndrome, and folliculitis. Dasatinib is a multi-targeted tyrosine kinase inhibitor active in vitro against most cell lines containing BCR-ABL mutations that confer resistance to imatinib. Dasatinib is likely to be effective against dermatofibroma sarcoma protuberans and cutaneous acute lymphoblastic leukemia, and has caused panniculitis. Cyclosporine 0.05% ocular emulsion (eye drops) are approved to treat dry eyes including dry eyes caused by collagen vascular disease. Cyclosporine eye drops might also have utility in treating eye pathology of ocular rosacea, atopic keratoconjunctivitis, graft versus host disease, herpes keratitis, chronic sarcoidosis of the conjunctiva, conjunctival manifestations of actinic prurigo, keratitis of keratitis-ichthyosis deafness (KID) syndrome, and lichen planus-related kerato-conjunctivitis. This article speculates that cyclosporine eye drops would also be useful for any disease causing ectropion or eclabion of the eye as well as toxic epidermal necrolysis-related eye pathology (in particular corneal scarring).
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PMID:A review of deferasirox, bortezomib, dasatinib, and cyclosporine eye drops: possible uses and known side effects in cutaneous medicine. 1737 1

Fibrosis is characterized by the excessive deposition of extracellular matrix components eventually resulting in organ dysfunction and failure. In dermatology, fibrosis is the hallmark component of many skin diseases, including systemic sclerosis, graft-versus-host disease, hypertrophic scars, keloids, nephrogenic systemic fibrosis, porphyria cutanea tarda, restrictive dermopathy and other conditions. Fibrotic skin disorders may be debilitating and impair quality of life. There are few FDA-approved anti-fibrotic drugs; thus, research in this area is crucial in addressing this deficiency. Recent investigations elucidating the pathogenesis of skin fibrosis have implicated endogenous reactive oxygen species produced by the multicomponent nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (Nox) enzyme complex. In this review, we discuss Nox enzymes and their role in skin fibrosis. An overview of the Nox enzyme family is presented and their role in the pathogenesis of skin fibrosis is discussed. The mechanisms by which Nox enzymes influence specific fibrotic skin disorders are also reviewed. Finally, we describe the therapeutic approaches to ameliorate skin fibrosis by directly targeting Nox enzymes with the use of statins, p47phox subunit modulators, or GKT137831, a competitive inhibitor of Nox enzymes. Nox enzymes can also be targeted indirectly via scavenging ROS with antioxidants. We believe that Nox modulators are worthy of further investigation and have the potential to transform the management of skin fibrosis by dermatologists.
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PMID:NADPH oxidase enzymes in skin fibrosis: molecular targets and therapeutic agents. 2415 25

Patients with chronic graft versus host disease may exhibit a range of sclerotic features. Herein we present a patient with confirmed porphyria cutanea tarda who subsequently developed chronic graft versus host disease.
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PMID:Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda. 2615 60

Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct diagnosis and appropriate management.
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PMID:Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review. 2871 39