Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.
Cartilage hair hypoplasia is a genetic disease, characterized by generalized metaphyseal dysplasia mainly affecting the knee joints. Variable extraskeletal features like anemia, malabsorption, impaired spermatogenesis, impaired immunity, and malignancies have been reported. The work up of malabsorption and short stature led to the diagnosis of celiac disease in three previous cases of cartilage hair hypoplasia. Here, we report an Indian girl with a novel genotype, diagnosed as celiac disease with cartilage hair hypoplasia, and review the previous three cases.
Division of Genetics, Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Bahadur Shah Zafar Marg, New Delhi, 110 002, India.
Ankur
A
Singh
Rajeshwari
R
Krishnan
Malobika
M
Bhattacharya
Gaurav
G
Pradhan
Ulrich
U
Salzer
Seema
S
Kapoor
D000293:Adolescent; D001706:Biopsy; D002446:Celiac Disease / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006627:Hirschsprung Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology; D007194:India; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D000081207:Primary Immunodeficiency Diseases