Rare Diseases Symptoms Automatic Extraction

Photosensitivity in the elderly-think of late-onset protoporphyria.

[erythropoietic protoporphyria]

Photosensitivity is the clinical hallmark of both erythropoietic protoporphyria (EPP) and X-linked dominant protoporphyria (XLDPP). Both disorders result from a hereditary dysfunction in heme biosynthesis. Disease onset is usually in early childhood. However, rare patients with late-onset EPP in association with a myeloproliferative disorder or myelodysplastic syndrome have been reported. In this issue, Livideanu et al. describe the first patient with late-onset XLDPP.

Diseases presenting "early childhood" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cystinuria
  • erythropoietic protoporphyria
  • fabry disease
  • gm1 gangliosidosis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • papillon-lefèvre syndrome
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • triple a syndrome
  • werner syndrome

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