Orphanet: Neonatal inflammatory skin and bowel disease

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Neonatal inflammatory skin and bowel disease

Disease definition

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.

ORPHA:294023

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: D84.8
OMIM: 614328 616069
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Neonatal inflammatory skin and bowel disease

ORPHA:294023

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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