Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-kappaB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe gastroenteritis. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.
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PMID:Incontinentia pigmenti in combination with decreased IgG subclass concentrations in a female newborn. 1610 46