transforming-growth-factor-beta and Hair-Diseases

To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy.. Case report and review of the literature. A 30-year-old man with a history of chronic ocular irritation was found to have distichiasis, epiblepharon, and unilateral corneal amyloidosis indistinguishable from lattice corneal dystrophy. Screening of the TGFBI gene was performed to rule out a previously reported mutation associated with lattice corneal dystrophy.. A corneal biopsy performed before presentation to the authors confirmed the presence of corneal amyloidosis. Screening of exons 4, 11, 12, and 14 in the TGFBI gene identified 2 previously reported polymorphisms, Leu472Leu and Phe540Phe, but no other coding region changes.. Corneal stromal amyloidosis clinically resembling lattice corneal dystrophy may be associated with trichiasis. The exclusion of a TGFBI-associated corneal dystrophy in this case, leaving trichiasis as the most likely cause of the corneal amyloid deposition, demonstrates the utility of molecular genetic analysis in confirming or refuting a presumptive clinical diagnosis.

Topics: Adult; Amyloidosis; Corneal Diseases; Corneal Stroma; Exons; Extracellular Matrix Proteins; Eyelashes; Eyelid Diseases; Hair Diseases; Humans; Male; Polymorphism, Single Nucleotide; Transforming Growth Factor beta

Pilomatricoma consists of the cells differentiating towards hair matrix cells. Immunohistochemical study revealed the deposition of type II collagen in the overlying dermo-epidermal junction (DEJ) of this benign tumor. Proalpha(1)(II) mRNA was detected by RT-PCR in the overlying epidermal layer but not in the dermal layer prepared from the lesional skin of pilomatricoma. The neutral salt-soluble proteins extracted from the tumor of pilomatricoma induced proalpha(1)(II) mRNA in the cultured human keratinocytes but not in the cultured dermal fibroblasts. Bone morphogenetic protein 2 or 4 (BMP2 or 4) was immunohistochemically detected in some shadow cells of pilomatricoma. Recombinant BMP2 and BMP4 were found to induce proalpha(1)(II) mRNA concentration dependently in the cultured human keratinocytes but not in the cultured fibroblasts. Proalpha(1)(II) mRNA induced by BMP2 and in cultured keratinocytes contained exon 2, indicating that the mRNA species is non-chondrogenic type IIA form. The results strongly suggest that BMP2 or 4 expressed in pilomatricoma is responsible for the induction of proalpha(1)(II) collagen mRNA in the overlying epidermal cells resulting in the deposition of type II collagen in the DEJ. When human keratinocytes were cultured on type II collagen substratum in vitro, the cell proliferation was accelerated at the early period of culture but was inhibited at the late period of culture, whereas the cell proliferation was persistently accelerated by type I or IV collagen substratum. Type II collagen deposition in the DEJ may potentially exert profound effects on keratinocyte proliferation and differentiation.

Topics: Adolescent; Adult; Bone Morphogenetic Protein 2; Bone Morphogenetic Protein 4; Bone Morphogenetic Proteins; Cell Division; Cells, Cultured; Collagen Type II; Dermis; Epidermis; Female; Hair Diseases; Humans; Keratinocytes; Male; Pilomatrixoma; Recombinant Proteins; RNA, Messenger; Skin; Skin Neoplasms; Tissue Distribution; Transforming Growth Factor beta

The mechanism of occurrence of calcification and ossification in pilomatricoma remains unclear.. To elucidate the pathogenesis of calcification and ossification in pilomatricoma we examined the role of bone morphogenetic protein (BMP)-2, which plays important parts in inducing ectopic bone formation both in vivo and in vitro.. Twenty cases of pilomatricoma were studied immunohistochemically using anti-BMP-2 monoclonal antibody.. In normal skin, including hair follicles, there was no BMP-2 expression. In all pilomatricomas, BMP-2 was found exclusively in the cytoplasm of shadow cells but not in basophilic cells. In two cases of bone formation seen in pilomatricoma, osteoblasts in the periosteal area showed a strong positive reaction, while bone trabeculum (bone matrix) showed no reaction.. Our findings indicate that shadow cells positive for BMP-2 may play an important part in generating bone formation in pilomatricoma.

Topics: Adolescent; Adult; Aged; Bone Matrix; Bone Morphogenetic Protein 2; Bone Morphogenetic Proteins; Child; Child, Preschool; Female; Hair Diseases; Humans; Immunoenzyme Techniques; Infant; Male; Middle Aged; Neoplasm Proteins; Osteoblasts; Pilomatrixoma; Skin Neoplasms; Transforming Growth Factor beta