Ameloonychohypohidrotic syndrome




A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.


  • Late tooth eruption
  • Premature tooth eruption
  • Unusual tooth shape
  • Everted lower lip
  • Decreased sweating
  • Dental staining
  • Enamel anomaly
  • Anodontia
  • Oligodontia
  • Dry skin
  • Fine hair
  • Thin tooth enamel
  • Thickened skin under nails
  • Thin toenails
  • Thin fingernails
  • Hyperconvex nails
  • Abnormality of dental color
  • Abnormality of dental enamel
  • Abnormality of the fingernails
  • Hyperkeratosis
  • Hypohidrosis
  • Hypoplastic toenails
  • Onycholysis


In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism. A positive ANA test with a speckled pattern will help identify scleroderma, but a skin biopsy should also be done. An antisclerodermal antibody titer is also useful if available. Esophageal motility studies will be helpful in early diagnosis. A skin biopsy will help identify many of the other conditions mentioned above. Urine for porphyrins will help identify porphyria.


  • NIH