title: Endogenous ochronosis with a fatal outcome.
abstract: BACKGROUND
  Endogenous ochronosis (EO) is an autosomal recessive inherited disorder where there is incomplete oxidation of tyrosine and phenylalanine due to a lack of the enzyme homogentisic acid oxidase.
  
  
  OBJECTIVE
  We report a singular observation of EO with a fatal outcome.
  
  
  METHODS
  We report the case of a 46-year-old man born to consanguineous parents with a medical history of recurrent renal colic and chronic nonspecific arthropathy. On clinical examination, slate blue pigmentation was seen on the cheeks, forehead, and nose, as well as blue-gray patches on all fingernails and bluish discoloration of the gums. Familial investigation revealed that his sister had similar pigmentation on the ears, hands, and fingernails. Histologic examination of a biopsy specimen from a pigmented lesion showed a dermal deposit of an acellular, eosinophilic material without cell reaction. Based on the clinical and histopathologic data, combined with the family medical history, our patient was considered to have EO with mucocutaneous, articular, and renal involvement. Unfortunately, the diagnosis was late because our patient died a few months later of terminal renal failure.
  
  
  CONCLUSIONS
  Skin signs are the hallmarks of EO and must alert the clinician to look for involvement of vital organs.
authors.affiliation: Department of Dermatology, La Rabta Hospital, Tunis, Tunisia. inesrania@yahoo.fr
authors.forename: Inès
authors.initials: I
authors.lastname: Zaraa
authors.forename: Imen
authors.initials: I
authors.lastname: Labbène
authors.forename: Sondes
authors.initials: S
authors.lastname: Trojjet
authors.forename: Dalila
authors.initials: D
authors.lastname: Mrabet
authors.forename: Nihel
authors.initials: N
authors.lastname: Meddeb
authors.forename: Ines
authors.initials: I
authors.lastname: Chelly
authors.forename: Slim
authors.initials: S
authors.lastname: Haouet
authors.forename: Mourad
authors.initials: M
authors.lastname: Mokni
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Sellami
authors.forename: Amel
authors.initials: A
authors.lastname: Ben Osman
mesh_terms: D000474:Alkaptonuria / Q000175:diagnosis*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000175:diagnosis*; D012867:Skin / Q000473:pathology*