Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.
Antaya
Richard J
RJ
Department of Dermatology, Yale University, New Haven, CT 06520-8023, USA.
Cajaiba
Mariana M
MM
Madri
Joseph
J
Lopez
Maria A
MA
Ramirez
Maria Celeste M
MC
Martignetti
John A
JA
Reyes-Múgica
Miguel
M
D000483:Alleles; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D005350:Fibroma / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D018000:Receptors, Peptide; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology
C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide; D004247:DNA