Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 1998

S Manouvrier-Hanu, and B Puech, and F Piette, and O Boute-Benejean, and A Desbonnet, and B Duquesnoy, and J P Farriaux
Consultation de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France.

Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007500 Iritis Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris. Iritides
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001766 Blindness The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE. Amaurosis,Bilateral Blindness,Blindness, Bilateral,Blindness, Legal,Blindness, Monocular,Blindness, Unilateral,Sudden Visual Loss,Unilateral Blindness,Blindness, Acquired,Blindness, Complete,Blindness, Hysterical,Blindness, Transient,Acquired Blindness,Amauroses,Bilateral Blindnesses,Complete Blindness,Hysterical Blindness,Legal Blindness,Monocular Blindness,Sudden Visual Losses,Transient Blindness,Visual Loss, Sudden
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D005076 Exanthema Diseases in which skin eruptions or rashes are a prominent manifestation. Classically, six such diseases were described with similar rashes; they were numbered in the order in which they were reported. Only the fourth (Duke's disease), fifth (ERYTHEMA INFECTIOSUM), and sixth (EXANTHEMA SUBITUM) numeric designations survive as occasional synonyms in current terminology. Rash,Skin Rash,Exanthem,Rash, Skin
D005260 Female Females

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