RESUMO
Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature). We report clinical findings of two siblings diagnosed with trichothiodystrophy associated with marked photosensitivity.
Assuntos
Síndromes de Tricotiodistrofia/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Brasil , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Masculino , Irmãos , Fatores de Transcrição/genética , Fatores de Transcrição TFII/genética , Proteína Grupo D do Xeroderma Pigmentoso/genética , Adulto JovemRESUMO
BACKGROUND: In the lipofilling procedures used in breast reconstruction, there is an unpredictability in the rate of reabsorption of the grafted fat. The objective of this study was to analyze the effect of tamoxifen, a medication commonly prescribed for patients with breast cancer, as a possible alternative to reduce the rate of autologous fat graft resorption. METHODS: The fatty cushion of the inguinal region of 20 female adult Wistar rats was removed and then autografted, using a standard volume of 0.2 ml in the subfascial plane of the dorsal region. The subject animals were randomized into two groups, the control and study groups. The study group animals were administered 20 mg/kg/day of tamoxifen citrate over a period of 21 days, by means of gavage. At the end of the experiment, the animals were killed and the grafts underwent morphologic and histopathologic analysis, with emphasis on the predominant inflammatory response pattern and collagen maturation. RESULTS: The rats undergoing treatment with tamoxifen (study group) presented higher values in relation to the weight and volume of fat grafts compared with the initial values and the control group. Histologic analysis using hematoxylin and eosin staining showed that resolution of the inflammatory process was faster in the control group. Analysis using the picrosirius method demonstrated higher percentages of immature collagen versus mature collagen. CONCLUSION: Use of tamoxifen reduced the rates of resorption and fibrosis of the injected fat, resulting in better integration of the autologous fat graft.
