22Apr 2022
Neonatal inflammatory skin and bowel disease type 1 caused by a complex genetic defect and responsive to combined anti‐tumour necrosis factor‐α and interleukin‐12/23 blockade

Neonatal inflammatory skin and bowel disease type 1 caused by a complex genetic defect and responsive to combined anti‐tumour necrosis factor‐α and interleukin‐12/23 blockade

ADAM17, encoding ADAM metallopeptidase domain 17, is a membrane‐bound shedding protease that plays an essential role during normal development and in the regulation of inflammation. Biallelic variants in ADAM17, resulting in complete loss of ADAM17 expression, have been reported in individuals affected by rare neonatal inflammatory skin and bowel disease 1 (NISBD1). A young female individual with NISBD1 featuring erythroderma, atrichia, nail dystrophy, oesophageal strictures, intractable diarrhoea, and profound failure to thrive recurrent cutaneous and systemic infections. Skin manifestations dramatically improved in response to combined anti‐tumour necrosis factor‐α and interleukin‐12/23 blockade. This study further expands the phenotypic and genetic spectrum of NISBD1 and suggests that combined immunosuppressive treatments may be indicated in this complex condition.

  • #dermatology

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