title: Dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria. A report of this disorder in father and son.
abstract: A congenital syndrome affecting the skin, oral mucosa and bulbar conjunctiva is reported in father and son. Skin lesions consisted of brownish papules with central keratotic plugs. Trauma was able to provoke lesions. In addition, changes of oral mucosa with premature loss of the teeth, and recurrent eye symptoms with conjunctivitis were present. Histological examination of specimens from skin, oral mucosa and conjunctiva revealed a uniform picture of dyskeratosis (single cell keratinization). The symptoms reported do not seem to fit into any of the existing muco-cutaneous syndromes. An autosomal dominant mutation is suggested as the cause of the disease.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology; D003231:Conjunctivitis / Q000235:genetics* / Q000473:pathology; D004817:Epidermis / Q000473:pathology; D004848:Epithelium / Q000473:pathology; D005881:Gingiva / Q000473:pathology; D005886:Gingival Hypertrophy / Q000473:pathology; D005891:Gingivitis / Q000473:pathology; D006801:Humans; D006965:Hyperplasia; D007642:Keratosis / Q000235:genetics / Q000473:pathology; D008297:Male; D009059:Mouth Diseases / Q000235:genetics* / Q000473:pathology; D009061:Mouth Mucosa / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome