inflammatory bowel disease neonatal inflammatory skin and bowel disease https://www.malacards.org/card/neonatal_inflammatory_skin_and_bowel_disease OMIMPS:614328 UMLS:C4751120 inflammatory skin and bowel disease, neonatal Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. GARD:0017355 Orphanet:294023 MEDGEN:1648296 MONDO:0017411 epidermal disease autoinflammatory syndrome hereditary disorder of connective tissue hereditary skin disorder