Rare Diseases Symptoms Automatic Extraction

Lamellar ichthyosis with rickets.

[lamellar ichthyosis]

Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is softening of bones leading to fractures and deformities. It is caused by vitamin D deficiency & lack of adequate calcium in diet. Children, 6 to 24 months of age, are at a higher risk due to rapidly growing bones. The association between various types of ichthyoses and rickets is well documented. We report a case of lamellar ichthyosis with rickets in a 14-year-old girl from our part of the world.

Diseases presenting "rare genetic disorder" symptom

  • aniridia
  • aromatase deficiency
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cushing syndrome
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • hirschsprung disease
  • holt-oram syndrome
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oculocutaneous albinism
  • oligodontia
  • papillon-lefèvre syndrome
  • proteus syndrome
  • triple a syndrome
  • werner syndrome

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