Document Detail

Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.
MedLine Citation:
PMID:  14521564     Owner:  NLM     Status:  MEDLINE    
A 3-year-old girl had severe intractable diarrhea with trichorrhexis nodosa and cirrhosis. This patient was referred to the pediatric dermatology clinic for lifelong brittle hair. The brittle hair microscopically demonstrated trichorrhexis nodosa. The girl also had facial dysmorphism, with a prominent forehead and cheeks, broad flat nose, and hypertelorism. She had a history of severe intractable diarrhea since 2 weeks of age and failure to thrive requiring lifelong total parenteral nutrition (TPN). Hepatomegaly was noted and prompted liver biopsy which demonstrated cirrhosis. Mental retardation and developmental delay was also found upon examination. This child may be included in the syndrome of intractable infant diarrhea, an entity known in the gastroenterology literature but yet not reported in the dermatologic literature. Dermatologists should be aware of this syndrome in which trichorrhexis nodosa is commonly seen.
Maeran C Landers; Theresa L Schroeder
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  20     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2003 Sep-Oct
Date Detail:
Created Date:  2003-10-02     Completed Date:  2004-04-14     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  432-5     Citation Subset:  IM    
Department of Dermatology, Oregon Health and Science University, Portland, Oregon 97201, USA.
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MeSH Terms
Child, Preschool
Diagnosis, Differential
Diarrhea, Infantile / complications*,  diagnosis,  therapy
Face / abnormalities*
Hair / abnormalities*
Infant, Newborn
Liver Cirrhosis / complications*,  diagnosis
Parenteral Nutrition, Total

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