elastin and Hamartoma

A 3-year-old Japanese girl presented with disseminated white papules on the trunk. A biopsied specimen of the lesional skin revealed a focal accumulation of elastic fibers in the mid to deep dermis. No skeletal involvement was detected. This case was considered to be elastic nevus without systemic involvement. Since an elevated elastin expression in the fibroblasts of typical Buschke-Ollendorff syndrome (BOS) has been reported, elastin and elastin-related protein mRNA levels in the cultured patient fibroblasts were determined. There were no significant differences of steady-state levels of elastin, fibrillin 1 and microfibril-associated glycoprotein 1 mRNAs between patient and matched control fibroblasts. Elastic nevus without skeletal involvement may be etiologically different from typical BOS.

Topics: Blotting, Northern; Child, Preschool; Elastin; Extracellular Matrix Proteins; Female; Gene Expression; Hamartoma; Humans; RNA, Messenger; Skin Diseases

We report a case of a complex hamartomatous lesion of the skin which presented in a 75-year-old woman as a painful nodule of the palm. Histology showed eccrine glands, fat, angiomatous vessels, and neurovascular glomic-like bodies, variously admixed and immersed in a cellular, fibroblastic stroma. The name palmar cutaneous hamartoma is proposed for this unusual lesion.

Topics: Actins; Aged; Elastin; Female; Hamartoma; Hand; Histocytochemistry; Humans; Immunohistochemistry; S100 Proteins; Skin Diseases

An unusual case of isolated exophytic elastic tissue nevi in the scrotal region of a 64-year-old man is described. The histological and ultrastructural findings were those of abundant abnormal elastic fibers and increased reticulin in the dermis. This hamartomatous lesion possesses clinical and histological features previously undescribed in connective tissue nevi.

Topics: Elastic Tissue; Elastin; Hamartoma; Histocytochemistry; Humans; Male; Microscopy, Electron; Middle Aged; Neoplasms, Connective Tissue; Nevus; Reticulin; Scrotum; Skin; Skin Neoplasms

Connective tissue nevi of the skin are hamartomatous lesions consisting predominantly of one of the components of the extracellular matrix, namely, collagen, elastin, or glycosaminoglycans. On the basis of clinical, histopathologic, and genetic considerations, the connective tissue nevi can be classified into defined categories. Association with extracutaneous features allows further delineation of these disease entities and aids in establishing an accurate diagnosis.

Topics: Adolescent; Adult; Collagen; Connective Tissue; Elastin; Female; Glycosaminoglycans; Hamartoma; Humans; Male; Nevus, Pigmented; Skin Neoplasms