Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.
BACKGROUND
It has been suggested that juvenile hyaline fibromatosis and infantile systemic hyalinosis represent different severities of the same disease.


OBJECTIVE
We sought to redefine these disorders clearly to establish a common inclusive terminology.


METHODS
The study included two children with early onset of similar pink papulonodular skin lesions and marked gingival hyperplasia. The first case was characterized by flexion contractures of the large joints, fractures, persistent diarrhea, recurrent chest infections, and retarded physical growth. The second patient had large swellings on the scalp and knees without systemic involvement.


RESULTS
Radiologic examination revealed fractures and osteolytic bone lesions in the first case, and soft tissue masses in the second case. Laboratory tests showed anemia in both cases, and hypogammaglobulinemia, hypoalbuminemia, and electrolyte imbalance in the first case. Histopathological and ultrastructural evaluation demonstrated hyalinized fibrous tissue in the dermis in both cases.


CONCLUSIONS
Genetic studies were unavailable.


CONCLUSIONS
Juvenile hyaline fibromatosis and infantile systemic hyalinosis share many common features that strongly support consideration of these conditions as different expressions of the same disorder. We propose a common term, "hyaline fibromatosis syndrome," which can be divided into mild, moderate, and severe subtypes.
Nofal
Ahmad
A
Dermatology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. ahmadnofal5@hotmail.com
Sanad
Mohammad
M
Assaf
Magda
M
Nofal
Eman
E
Nassar
Amani
A
Almokadem
Sahar
S
Attwa
Enayat
E
Elmosalamy
Khaled
K
D002675:Child, Preschool; D003286:Contracture / Q000473:pathology; D020405:Dermis / Q000378:metabolism / Q000473:pathology; D005260:Female; D005350:Fibroma / Q000145:classification / Q000473:pathology*; D005351:Fibromatosis, Gingival / Q000145:classification / Q000473:pathology*; D005885:Gingival Hyperplasia / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D012878:Skin Neoplasms / Q000145:classification / Q000473:pathology*; D013577:Syndrome