1/3. Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis.Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.- - - - - - - - - - ranking = 1keywords = hyalinosis (Clic here for more details about this article) |
2/3. Infantile systemic hyalinosis in a black infant.A black girl was born with flexion contractures and experienced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasia, perianal nodules, torticollis, diarrhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose over bony prominences. A skin biopsy specimen showed hyaline material in the papillary dermis with lack of elastic fibers. Ultrastructural examination revealed fibrillogranular material around fibroblasts and blood vessels. This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusual features of our case are discussed.- - - - - - - - - - ranking = 1.2keywords = hyalinosis (Clic here for more details about this article) |
3/3. Hyalinosis cutis et mucosae: gingival involvement.Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) is a rare syndrome with autosomal recessive inheritance. The disease is characterized by diffuse deposition of a hyaline-like substance in the dermis, the submucosal connective tissue and various internal organs. The oral mucosa of affected people becomes nodular and thickened, with primary involvement of the labial, buccal and palatal mucosa, posterior tongue, and lingual frenulum. We report the case of a 66-year-old man with hyalinosis cutis et mucosae who presented with gingival hyperplasia due to diffuse deposition of hyaline-like material, and discuss the diagnostic significance of the microscopic findings of the gingival tissues. The present clinical features are also compared to those of the same patient at the age of 38 years.- - - - - - - - - - ranking = 0.2keywords = hyalinosis (Clic here for more details about this article) |