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Annual Meeting of the North American Society for Pediatric Gastroenterology and Nutrition


Ginzberg, H; Krafchik, B R; Sirkin, W; Phillips, M J; Roberts, E A; Marcon, M

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Journal of Pediatric Gastroenterology & Nutrition: October 1996 - Volume 23 - Issue 3 - p 355
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Netherton Syndrome (NS) is a rare form of congenital ichthyosis, involving skin (erythroderma and later ichthyosis linearis circumflexa), hair shaft abnormalities, and an atopic diathesis (usually to peanuts). Hepatic steatosis has been associated with other congenital ichthyosis syndromes, not with NS. We describe two cases of NS with hepatic steatosis.

Patient 1 was evaluated at 6 wks old for poor weight gain, diffuse erythematous scaly eruption and hepatomegaly. Liver function tests (LFTs) were normal except low serum albumin. Percutaneous liver biopsy revealed moderate large-droplet steatosis with mild patchy portal inflammation. NS was diagnosed by scanning electron microscopy of hair showing trichorrhexis invaginata. Patient 2 was referred at 7 mos old for failure to thrive, scaly erythoderma and marked hepatomegaly. Serum albumin was low; other LFTs were normal. Liver biopsy showed severe large-droplet steatosis. The diagnosis was later revised from neutral lipid storage disease (NLSD) when scanning electron microscopy revealed trichorrhexis invaginata. In both cases LFTs remained normal; hepatomegaly and evidence of fatty infiltration on hepatic sonography resolved over 1-3 yrs.

Conclusion: Hepatic steatosis commonly occurs in metabolic disease. With congenital ichthyosis syndromes, it occurs in NS, not just NLSD. Unlike NLSD, hepatic steatosis in NS appears to be a transient, benign feature. Thus hepatic involvement in NS carries a better prognosis than in NLSD.

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Denver, October 4-5, 1996

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