Microscopic analysis of the hair shaft showing breaks located at nodes in the hair<unk> rrhexis nodosa) and longitudinal breaks. Small intestine biopsy of a patient with THE syndrome showing severe villous atrophy with intense mononuclear cell infiltration in the lamina propria. (Courtesy of Prof. Michel Peuchmaur, Hôpital Robert Debré, Paris, France) Facial features The typical facial features are low-set ears, prominent eyes with hypertelorism, broad flat nose, prominent forehead and large mouth. Liver There may be fibrosis with bile duct proliferation, occasional giant cells and regenerative parenchymal nodules. Siderosis is common. Small bowel Microscopic examination of a biopsy of the small bowel in these patients shows villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific abnormalities involving the epithelium. The amount of villous atrophy does not explain the severity of the diarrhea. Studies of<unk> yte brush-border ion transporter proteins (sodium-hydrogen exchanger 2, sodium-hydrogen exchanger 3, aquaporin 7, sodium iodide symporter and hydrogen potassium adenosine<unk> sphatase) showed reduced expression or mislocalization in all patients with different profiles for each. Hair Microscopic analysis of the hair shows twisted hairs of unequal size and different shapes (pili torti, aniso- and poikilotrichosis), longitudinal breaks and breaks located at nodes<unk> rrhexis nodosa). Scanning electron microscopy might reveal hair budding<unk> rrhexis blastysis). Biochemical analysis may reveal sulfur-deficient brittle hair<unk> thiodystrophy; note that disulfide bonds determine hair waviness). Platelets Platelets may be enlarged. The membrane surface connected canalicular system is disrupted with prominent tubules and small membranous vesicles. Alpha granules may be missing from the platelets. Despite these abnormalities there is no increased tendency to bleed in this syndrome. Other More than 90% of patients present immune defects. Low immunoglobulin level, a defect in antibody production after vaccination, monoclonal hyper IgA, and low lymphocyte count have been reported. In these cases, some patients may need immunoglobulin supplementation.
Tricho-hepato-enteric syndrome
Riga–Fede disease
Travelers' diarrhea
Intestinal capillariasis
Fitz-Hugh–Curtis syndrome
Jamaican vomiting sickness
Monorchism
Toxocariasis