Dyskeratosis Benigna Intraepithelialis Mucosae et Cutis Hereditaria

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.

Ocular changes in a case of Kyrle's disease. 20‐year follow‐up

“…The present case was reported more than twenty years ago, but under other diagnoses (Hvidberg-Hansen et al 1974;Form et al 1978). The present report solves a diagnostic dilemma, and adds new histopathological information to the ocular findings.…”

“…In this report the authors did not apply modern immune histochemistry and did not reach a definite diagnosis but did not exclude KD. The second report appeared in dermatological literature in 1978 under the name of ''Dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria'' (Form et al 1978). The authors chose this non committal descriptive term based on the clinical findings.…”

Mucocutaneous dyskeratosis with periodontal destruction and premature tooth loss

“…Histopathologic features on biopsies of the skin and oral lesions were similar. The oral and cutaneous lesions presented by this patient were similar to those described by From et al in 1978 in a father and son, reported as dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria-the sole report in the English language. To avoid confusion with hereditary benign intraepithelial dyskeratosis (Witkop-von Sallmann syndrome) we have renamed the condition as mucocutaneous dyskeratosis with periodontal destruction and tooth loss.…”

“…Based on the clinical and histopathologic findings, as well as the skin involvement, the diagnosis of mucocutaneous dyskeratosis with periodontal destruction and tooth loss (likely the same disease first described by From et al 1 as dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria) was made. However, ocular involvement was not found despite a thorough clinical evaluation and yearly reevaluation to the age of 5 years.…”

“…From et al 1 described a new entity entitled dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria. That report, the only one to date in the English language, described a father and son who had benign intraepithelial dyskeratosis affecting skin, bulbar conjunctiva, and oral mucosa.…”