RESUMO
Xeroderma pigmentosum is a rare hereditary autosomal recessive genodermatosis. At present, there are many treatment options for xeroderma pigmentosum, covering medical/procedural, surgical and combined modalities. However, the quality of these interventions has not been assessed. Our study aimed to perform a systematic review of the literature regarding the treatment of xeroderma pigmentosum. Multiple medical databases were accessed with the Medical Subject Headings terms; "xeroderma pigmentosum," "therapeutics" and "surgical procedures, operative" from January 2000 to April 2019, including articles published in Portuguese, Spanish and English (PROSPERO-CRD42018114858). Two hundred and ninety-eight studies were found in the databases researched, of which, after applying the inclusion criteria, only 33 studies remained. The 33 complete articles were read by three of the authors, having been found: 16 reported medical/procedural and 17 reported surgical treatments. Only one clinical study presented a good level of evidence (EL: 2): a randomized clinical trial using a T4 endonuclease V (T4N5) liposome lotion which reduced the development of skin lesions in patients with xeroderma pigmentosum. Amongst surgical modalities, all studies presented low evidence level (EL: 4). Three illustrative cases are also presented, to emphasize the multiple number of times that surgical modalities may be required in these patients. The therapeutic modalities, both clinical and surgical, for xeroderma pigmentosum presented a low level of scientific evidence which did not allow meta-analysis. More therapeutic studies, both clinical and surgical, with better scientific evidence are needed.
Assuntos
Neoplasias Cutâneas/terapia , Xeroderma Pigmentoso/terapia , Antineoplásicos/uso terapêutico , Procedimentos Cirúrgicos Dermatológicos , Fluoruracila/uso terapêutico , Humanos , Imiquimode/uso terapêutico , Pomadas , FotoquimioterapiaAssuntos
Angiofibroma/patologia , Neoplasias Faciais/patologia , Inibidores de Proteínas Quinases/uso terapêutico , Esclerose Tuberosa/diagnóstico , Erupções Acneiformes/diagnóstico , Erupções Acneiformes/etiologia , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Asteraceae/efeitos adversos , Dermatite Alérgica de Contato/imunologia , Doença de Fabry/diagnóstico , Dermatoses Faciais/patologia , Doença de Fox-Fordyce/diagnóstico , Doença de Fox-Fordyce/tratamento farmacológico , Infecções por HIV/complicações , Humanos , Interferons/uso terapêutico , Dermatopatias Vesiculobolhosas/etiologia , Serina-Treonina Quinases TOR/antagonistas & inibidores , Terminologia como Assunto , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Urticária/etiologia , Ceras/efeitos adversos , Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso/terapia , Zinco/deficiênciaAssuntos
Nanismo/diagnóstico , Nanismo/terapia , Hipogonadismo/diagnóstico , Hipogonadismo/terapia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Xeroderma Pigmentoso/diagnóstico , Xeroderma Pigmentoso/terapia , Criança , Nanismo/genética , Humanos , Hipogonadismo/genética , Deficiência Intelectual/genética , Masculino , Xeroderma Pigmentoso/genéticaRESUMO
Pigmented xerodermoid, a rare genodermatosis, presents with clinical features and pathology similar to xeroderma pigmentosum, but at a later age. DNA repair replication is normal, but there is total depression of DNA synthesis after exposure to UV radiation. Two siblings in their teens and a man in his thirties with features of pigmented xerodermoid, e.g. photophobia, freckle-like lesions, keratoses, dryness of skin, and hypo- and hyper-pigmentation, are described. Although classically the onset of pigmented xerodermoid is said to be delayed till third to fourth decade of life, it seems the disease may appear earlier in the tropics. Early diagnosis and management could be life-saving.