RESUMO
BACKGROUND: Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood. OBJECTIVE: We sought to discover characteristics that account for poor outcomes in lethal KID syndrome. METHODS: We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E. RESULTS: Infant death occurred in all patients with GJB2 p.G45E and p.A88V; it is unusual with other GJB2 mutations. Early death with those 2 "lethal" mutations is likely multifactorial: during life all had ≥1 serious infection; most had poor weight gain and severe respiratory difficulties; many had additional anatomic abnormalities. Structural modeling of GJB2 p.G45E identified no impact on the salt bridge previously predicted to account for abnormal central carbon dioxide sensing of GJB2 p.A88V. LIMITATIONS: This clinical review was retrospective. CONCLUSION: GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. Those electrophysiologically severe mutations in GJB2 reveal abnormalities in many organs in lethal KID syndrome. All patients with KID syndrome may have subtle abnormalities beyond the eyes, ears, and skin. Early genotyping of KID syndrome births will inform prognostic discussion.
Assuntos
Anormalidades Congênitas/genética , Conexinas/genética , Surdez/genética , Surdez/fisiopatologia , Insuficiência de Crescimento/genética , Ictiose/genética , Ictiose/fisiopatologia , Ceratite/genética , Ceratite/fisiopatologia , Fístula do Sistema Respiratório/genética , Peso Corporal/genética , Conexina 26 , Conexinas/química , Surdez/patologia , Feminino , Genótipo , Humanos , Ictiose/patologia , Lactente , Morte do Lactente , Recém-Nascido , Ceratite/patologia , Masculino , Modelos Moleculares , Estrutura Molecular , MutaçãoRESUMO
When lichen planus involves the scalp, it is known as lichen planopilaris, and when it involves the eye, it is known as ocular lichen planus; both are rare. Early detection and targeted therapy are crucial in preventing hair loss and scarring conjunctivitis. Little is known regarding appropriate treatment for lichen planopilaris. The objective of this case study is to present a new case of pediatric ocular lichen planus and lichen planopilaris and to identify all reported cases of pediatric lichen planopilaris, highlighting disease involvement, treatment, and response to treatment.
Assuntos
Líquen Plano/diagnóstico , Dermatoses do Couro Cabeludo/diagnóstico , Criança , Ciclosporina/uso terapêutico , Olho/patologia , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Líquen Plano/tratamento farmacológico , Metotrexato/uso terapêutico , Prednisolona/uso terapêutico , Couro Cabeludo/patologia , Dermatoses do Couro Cabeludo/tratamento farmacológicoRESUMO
Infantile hemangiomas (IHs) are common benign tumors of childhood. IHs often regress satisfactorily without intervention, but a subset of IHs may lead to functional or cosmetic morbidity necessitating therapy. PHACE syndrome is characterized by a variety of neurocutaneous and vascular anomalies that typically include segmental hemangiomas. We present an infant with PHACE syndrome and segmental IH that failed conventional first-line therapies. Treatment with sirolimus provided benefit with regression of the cutaneous IH. As an inhibitor of the mammalian target of rapamycin (mTOR) pathway, the effective use of sirolimus may shed light on the emerging role of mTOR signaling in the development and pathogenesis of IHs.
Assuntos
Coartação Aórtica/tratamento farmacológico , Anormalidades do Olho/tratamento farmacológico , Neoplasias Faciais/tratamento farmacológico , Hemangioma/tratamento farmacológico , Síndromes Neurocutâneas/tratamento farmacológico , Sirolimo/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Antibióticos Antineoplásicos/uso terapêutico , Feminino , Humanos , Recém-NascidoRESUMO
Psoriasis commonly affects children and adolescents, and the need for safe, effective therapy is a special consideration in the pediatric population. In recent years, the use of targeted immunomodulatory biologic agents has been increasingly studied for the treatment of psoriasis. Of these, etanercept, a tumor necrosis factor-alpha antagonist, has been approved for the treatment of psoriasis and psoriatic arthritis in adults, and while it is approved for use in juvenile rheumatoid arthritis, formal studies are needed to demonstrate its safety and efficacy for childhood psoriasis. We present our preliminary experience of treating nine pediatric patients with generalized, recalcitrant psoriasis with etanercept therapy.