RESUMO
We present the case of a 20-month-old girl with Schimmelpenning-Feuerstein-Mims (SFM) syndrome with extensive head, neck, and torso skin involvement successfully managed with topical trametinib. Trametinib interferes downstream of KRAS and HRAS in the MAPK signaling pathway, of which KRAS was implicated in our child's pathogenic variant. Although other dermatologic conditions have shown benefit from oral trametinib, its topical use has not been well reported. Our patient showed benefit from the use of twice-daily topical trametinib, applied to the epidermal and sebaceous nevi over a 16-month period, leading to decreased pruritus and thinning of the plaques.
Assuntos
Piridonas , Pirimidinonas , Neoplasias Cutâneas , Humanos , Piridonas/uso terapêutico , Piridonas/administração & dosagem , Feminino , Pirimidinonas/uso terapêutico , Pirimidinonas/administração & dosagem , Lactente , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Nevo/tratamento farmacológico , Insuficiência de Crescimento/tratamento farmacológico , Administração Tópica , Anormalidades Múltiplas/tratamento farmacológico , Nevo Sebáceo de Jadassohn/tratamento farmacológico , Síndromes Neurocutâneas/tratamento farmacológico , Síndromes Neurocutâneas/diagnóstico , Anormalidades da Pele/tratamento farmacológico , Antineoplásicos/uso terapêutico , Anormalidades do Olho/tratamento farmacológico , Doenças da Imunodeficiência Primária/tratamento farmacológicoRESUMO
Common polygenic skin disorders, such as atopic dermatitis, may rarely present in a segmental or linear distribution due to cutaneous mosaicism. Only seven cases of superimposed linear atopic dermatitis have been reported to date. Here, we present a child with severe superimposed linear atopic dermatitis and highlight the first successful use of dupilumab in its treatment.
