Zinc Deficiency: Specific Scalp Hair Defects Seen by Scanning Electron Microscopy May Provide a Valuable New Test

Zinc deficiency in man results in multisystem disease. It may be acquired or hereditary; the latter can be fatal if left untreated. Premature babies are particularly susceptible to zinc deficiency. Unfortunately no simple, reliable test for zinc status exists at present. Short, newly-emerging scalp hair samples from 3 classical cases of zinc deficiency all showed the same characteristic abnormalities when examined by scanning electron microscopy, i.e. straight, blunt tips bearing scales, unusually thick cuticular scales with jagged free-edges, and very fine longitudinal corrugations in individual scales. These abnormal features occurring together appear to be specific for zinc deficiency; they also varied in severity with marked variations in zinc status during follow-up studies. Due to the relative rarity of classic cases of zinc deficiency, it is not possible for one centre of our catchment size to conduct a pre-planned study. However, if the present findings can be confirmed elsewhere, it is concluded that scanning electron microscopy of appropriately-selected hairs may provide a valuable new test for the diagnosis of zinc deficiency and for monitoring the response to zinc therapy

Syndromic (phenotypic) diarrhea in early infancy

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000–400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (≤ 1 month in most cases) and is accompanied by severe malabsorption leading to early and relentless protein energy malnutrition with failure to thrive. Liver disease affects about half of patients with extensive fibrosis or cirrhosis. There is currently no specific biochemical profile, though a functional T-cell immune deficiency with defective antibody production was reported. Microscopic analysis of the hair show twisted hair (pili torti), aniso- and poilkilotrichosis, and trichorrhexis nodosa. Histopathological analysis of small intestine biopsy shows non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria, and no specific histological abnormalities involving the epithelium. The etiology remains unknown. The frequent association of the disorder with parental consanguinity and/or affected siblings suggests a genetic origin with an autosomal recessive mode of transmission. Early management consists of total PN. Some infants have a rather milder phenotype with partial PN dependency or require only enteral feeding. Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature