[Hypoplasia of cartilage and hair with combined immune deficiency].
We report a case of cartilage-hair hypoplasia in a girl. The patient had short stature with short limbs and scalloped long bone metaphyses, sparse, poorly-pigmented hair, and increased susceptibility to infections. Several features of this case deserve attention: neutropenia, probably due to an autoimmune mechanism, was an initial manifestation; the immune deficiency (defective B and T cell immunity, autoimmune manifestations) was severe, and cytomegalovirus infection possibly aggravated the immune deficiency and hormone abnormalities. Whereas this patient's short stature is becoming more marked, prophylaxis of infections and administration of immune globulins have effectively prevented complications for the last two years.
Rubie
H
H
Graber
D
D
Fischer
A
A
Tauber
M T
MT
Maroteaux
P
P
Robert
A
A
Le Deist
F
F
Rochiccioli
P
P
Griscelli
C
C
Regnier
C
C
D002357:Cartilage Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D002648:Child; D004392:Dwarfism / Q000209:etiology* / Q000276:immunology; D005260:Female; D006201:Hair Diseases / Q000150:complications* / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D011859:Radiography
Hypoplasie du cartilage et des cheveux avec déficit immunitaire combiné.