neonatal inflammatory skin and bowel disease
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.
MONDO:0005265
inflammatory bowel disease
is_a
MONDO:0019268
epidermal disease
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MONDO:0019751
autoinflammatory syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0100118
hereditary skin disorder
is_a
inflammatory skin and bowel disease, neonatal
exact