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Neonatal inflammatory skin and bowel disease type 1
Other Resources UpToDate PubMed

Neonatal inflammatory skin and bowel disease type 1

Contributors: Jourdan Brandon, Asha Nanda, Susan Burgin MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Neonatal inflammatory skin and bowel disease type 1 (NISBD1) is a rare genetic disease characterized by erythroderma, refractory diarrhea, hair abnormalities, and recurrent infections. There have only been 7 cases of NISBD1 reported in the literature, so the phenotype is not fully understood.

NISBD1 is caused by loss of function mutations of the ADAM17 gene. ADAM17 encodes a membrane-bound protease that plays a vital role in regulating numerous inflammatory pathways. The protease cleaves more than 80 substrates, including several involved in epidermal growth factor, interleukin 6 (IL-6), and tumor necrosis factor (TNF) signaling. Dysfunction of these pathways results in the inflammatory dermatologic and gastrointestinal manifestations of NISBD1, while decreased tumor necrosis factor alpha (TNF-α) function is thought to be implicated in the increased susceptibility to infections.

NISBD1 typically has a neonatal onset with death occurring in infancy, but the disease course is variable, with 2 living patients reported at ages 17 and 19 years. Mortality is primarily due to infection or complications secondary to infection. Consanguinity is thought to increase the risk of inheriting the disease.

Manifestations of the disease are variable due to the broad function of ADAM17. Involvement of the skin is thought to be due to failure of cleavage of desmocollins and desmogleins from the cell surface, causing dysfunction of the skin barrier. Patients experience recurrent flares of perioral and perianal erythema and widespread pustules that may progress to psoriasiform erythroderma. A collodion membrane was reported in one case. Gastrointestinal involvement (GI) presents similarly to inflammatory bowel disease (see Crohn disease and ulcerative colitis). The primary symptom is refractory diarrhea that may result in malabsorption, failure to thrive, and growth retardation. There has been 1 reported case of an accompanying esophageal stricture. Due to decreased functionality of host defense pathways, patients have increased susceptibility to bacterial and opportunistic infections that may progress to sepsis. Hair abnormalities vary from broken, short scalp hair with wiry eyebrows and eyelashes to the complete absence of scalp, facial, and body hair. Isolated disease manifestations include atrial septal defects, ear tags, nail dystrophy, renal enlargement, isolated systolic hypertension, and cardiomegaly.

Codes

ICD10CM:
P78.89 – Other specified perinatal digestive system disorders
P83.88 – Other specified conditions of integument specific to newborn

SNOMEDCT:
773662009 – Neonatal inflammatory skin and bowel disease

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Last Reviewed:08/15/2022
Last Updated:09/05/2022
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Neonatal inflammatory skin and bowel disease type 1
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