RESUMO
Netherton syndrome is a rare, severe genetic disorder of cornification without specific treatment. We describe two cases who demonstrated marked cutaneous improvement with secukinumab and suggest a role for IL-17 therapy in treating this condition.
Assuntos
Ictiose , Síndrome de Netherton , Neoplasias Cutâneas , Anticorpos Monoclonais Humanizados , Cabelo , Humanos , Síndrome de Netherton/complicações , Síndrome de Netherton/tratamento farmacológicoRESUMO
A 21-year-old man with Netherton syndrome underwent investigation of a persistently elevated serum alanine transaminase, detected on routine monitoring. He drank no alcohol, was not diabetic or overweight (body mass index 23 kg/m2) and had no clinical features of liver dysfunction. A FibroScan yielded an elevated result of 9.3 kPa. An ultrasound guided liver biopsy showed histological features consistent with non-alcoholic steatohepatitis, with activity score of 4 and fibrosis stage of 3. The patient was started on vitamin E supplementation and remains under surveillance.
Assuntos
Síndrome de Netherton/complicações , Hepatopatia Gordurosa não Alcoólica/etiologia , Alanina Transaminase/sangue , Suplementos Nutricionais , Humanos , Masculino , Síndrome de Netherton/sangue , Hepatopatia Gordurosa não Alcoólica/terapia , Vitamina E/uso terapêutico , Vitaminas/uso terapêutico , Adulto JovemRESUMO
Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management. We reviewed the literature for previous cases of surgery in individuals with Netherton syndrome using MEDLINE and PubMed searches. Our patient underwent surgery to remove the lesion without complication. Using conventional dressings and topical negative-pressure therapy, the wound was managed and healed within a reasonable time frame despite the underlying skin condition. This case indicates that surgery and topical negative-pressure therapy is a safe and reasonable treatment for individuals with Netherton syndrome.
Assuntos
Tumor de Buschke-Lowenstein/cirurgia , Síndrome de Netherton/cirurgia , Adolescente , Tumor de Buschke-Lowenstein/complicações , Humanos , Masculino , Tratamento de Ferimentos com Pressão Negativa/métodos , Síndrome de Netherton/complicações , Pele/patologiaRESUMO
Netherton syndrome (NS) is a rare autosomal recessive skin disease with severe skin inflammation and scaling, a specific hair shaft defect (trichorrhexis invaginata or bamboo hair), and severe atopic manifestations including atopic dermatitis and hay fever with high serum immunoglobulin E levels and hypereosinophilia. NS is caused by loss-of-function mutations in serine protease inhibitor of Kazal-type 5 (SPINK5) encoding lympho-epithelial Kazal-type-related inhibitor (LEKTI) expressed in the stratified epithelia. We report the first case of penile squamous cell carcinoma in a patient with NS.
Assuntos
Carcinoma de Células Escamosas/complicações , Síndrome de Netherton/complicações , Neoplasias Penianas/complicações , Adulto , Carcinoma de Células Escamosas/patologia , Humanos , Masculino , Neoplasias Penianas/patologiaAssuntos
Carcinoma de Células Escamosas/etiologia , Neoplasia de Células Basais/etiologia , Neoplasias Primárias Múltiplas/etiologia , Síndrome de Netherton/complicações , Neoplasias Cutâneas/etiologia , Adulto , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Humanos , Masculino , Neoplasia de Células Basais/patologia , Neoplasia de Células Basais/terapia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Síndrome de Netherton/diagnóstico , Síndrome de Netherton/genética , Fatores de Risco , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Fatores de Tempo , Resultado do TratamentoAssuntos
Mutação/genética , Síndrome de Netherton/diagnóstico , Diagnóstico Pré-Implantação , Diagnóstico Pré-Natal , Proteínas Secretadas Inibidoras de Proteinases/genética , Adulto , Sequência de Bases , Blastômeros/citologia , Transferência Embrionária , Feminino , Fertilização in vitro , Humanos , Masculino , Dados de Sequência Molecular , Síndrome de Netherton/complicações , Síndrome de Netherton/genética , Oligospermia/terapia , Síndrome do Ovário Policístico/terapia , Gravidez , Inibidor de Serinopeptidase do Tipo Kazal 5 , Injeções de Esperma IntracitoplásmicasRESUMO
The surgical management of a giant condyloma of Buschke and Löwenstein poses particular reconstructive challenges, given the wound size, depth, and infection risk. We present a case where a pedicled anterolateral thigh flap is used to reconstruct a complex wound following resection of a giant condyloma of Buschke and Löwenstein arising in a patient with Netherton syndrome. Our operative technique re-iterates the utility of this flap in perineal reconstruction and demonstrates the possibility for an 18 cm wide arc of rotation. To our knowledge, this is the first report of a successful complex excision of a giant condyloma in Netherton syndrome, the subsequent reconstruction, and periodic maintenance with topical therapies.