Biomaterial Database

Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report. 2020

Michael Milliken, and Jack Lee, and Sarah D Cipriano

Department of Dermatology, University of Utah, Salt Lake City, UT, USA.

Rhizomelic chondrodysplasia punctata is a rare, often fatal disease that shares many clinical dysmorphologic features with the rare often non-lethal chondrodysplasia punctata due to maternal autoimmune disease. Characteristic findings of both conditions include mid-face hypoplasia, stippled epiphyses of the vertebrae and long bones, and growth failure. A growing association with anti-ribonucleoprotein antibodies is emerging amongst patients with chondrodysplasia punctata due to maternal autoimmune disease and also neonatal lupus that have potential important screening implications. We present a unique case of chondrodysplasia punctata with neonatal lupus in the setting of positive anti-RNP antibodies and negative anti-Ro/SSA and -La/SSB antibodies born to a mother with mixed connective tissue disease and Raynaud's syndrome.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008180	Lupus Erythematosus, Systemic	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.	Libman-Sacks Disease,Lupus Erythematosus Disseminatus,Systemic Lupus Erythematosus,Disease, Libman-Sacks,Libman Sacks Disease
D009035	Mothers	Female parents, human or animal.	Mothers' Clubs,Club, Mothers',Clubs, Mothers',Mother,Mother Clubs,Mother's Clubs,Mothers Clubs,Mothers' Club
D002806	Chondrodysplasia Punctata	A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.	Chondrodystrophia Calcificans Congenita,Conradi-Hunermann Syndrome,Dysplasia Epiphysialis Punctata,Epiphyses, Stippled,Stippled Epiphyses,Chondrodysplasia Punctata 2, X-Linked,Chondrodysplasia Punctata 2, X-Linked Dominant,Conradi Hunermann Happle Syndrome,Conradi-Hunermann-Happle Syndrome,Conradi-Hünermann Syndrome,Conradi-Hünermann-Happle Syndrome,Happle Syndrome,Hunermann-Conradi Syndrome,X-Linked Chondrodysplasia Punctata 2,X-Linked Dominant Chondrodysplasia Punctata,Chondrodysplasia Punctata 2, X Linked,Chondrodysplasia Punctata 2, X Linked Dominant,Conradi Hunermann Syndrome,Conradi Hünermann Happle Syndrome,Conradi Hünermann Syndrome,Conradi-Hunermann-Happle Syndromes,Conradi-Hünermann Syndromes,Conradi-Hünermann-Happle Syndromes,Hunermann Conradi Syndrome,X Linked Chondrodysplasia Punctata 2,X Linked Dominant Chondrodysplasia Punctata
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000974	Antibodies, Antinuclear	Autoantibodies directed against various nuclear antigens including DNA, RNA, histones, acidic nuclear proteins, or complexes of these molecular elements. Antinuclear antibodies are found in systemic autoimmune diseases including systemic lupus erythematosus, Sjogren's syndrome, scleroderma, polymyositis, and mixed connective tissue disease.	Anti-DNA Antibodies,Antibodies, Anti-DNA,Antinuclear Antibodies,Antinuclear Autoantibodies,Antinuclear Autoantibody,Antinuclear Factors,Antinuclear Antibody,Antinuclear Factor,Anti DNA Antibodies,Antibody, Antinuclear,Autoantibody, Antinuclear,Factor, Antinuclear