Disease:


  • OMIM ID: 120450 . 120450
  • OMIM diseaseName: %120450 COMEDONES, FAMILIAL DYSKERATOTIC
  • OMIM diseaseClinical_Synopsis: Skin: Dyskeratotic comedones Inheritance: Autosomal dominant
  • OMIM diseaseText: Carneiro et al. (1972) described a family in which 4 members had disseminated comedo-like lesions that histologically showed distinctive dyskeratotic changes. Rodin et al. (1967) described widespread comedones in multiple family members. Dyskeratosis was not mentioned. No male-to-male transmission had been observed. Leppard (1982) described a 68-year-old man with longstanding atherosclerosis who had asymptomatic horny papules on both legs for most of his adult life. In the previous 2 years, similar papules had been noticed on the scrotum and penis because they were accompanied by severe burning and itching. Histologically, the fully developed lesion was a crater filled with a hyperkeratotic and partially parakeratotic plug, but no hairs. The patient did not know of anyone else in the family with a similar problem. However, when the family was examined, approximately half of those still living were found to be affected. There were affected members in 3 sibships in 3 generations with a presumed incidence of male-to-male transmission. Hall et al. (1987) described 3 affected members in 1 family: a father, his daughter, and one of his sons. They found 6 cases already documented in the English-language literature. The proband first noted comedones at the age of 7 years. Initially these lesions involved the extensor aspect of the forearms and the anterior part of his thighs, but they subsequently spread to other areas of the body. They were asymptomatic except for occasional pruritus. The penile shaft was involved as were many areas of the skin, but only a few lesions were found on the face. The palms, soles, scalp, oral mucous membranes, and glans penis were spared. The proband's father recalled having such lesions only after age 30. They initially appeared on his thighs and volar forearms and gradually spread. The lesions were pruritic and frequently became inflamed. The sister of the proband developed her comedonal lesions in early childhood, first appearing on the forearms and thighs. Van Geel et al. (1999) found reports of 9 patients belonging to 4 families with familial dyskeratotic comedones in the English language medical literature since the description of the disorder by Carneiro et al. (1972). They presented a table of these cases adapted from Hall et al. (1987) and added the case of a 49-year-old woman with widespread hyperkeratotic comedo-like lesions that had first appeared at the age of 17 years. Initially, the lesions were present only on the legs, but they subsequently reached the trunk and arms. The scalp, face, palms, soles, and mucous membranes were spared. All skin lesions were asymptomatic except for occasional pruritus or irritation. Spontaneous regression had been observed, but new lesions appeared continually. Examination showed numerous papules a few millimeters in diameter, with a central keratotic plug. Removal of the keratotic plug left a small depressed bleeding crater. The patient had no history of acne vulgaris. A sister had the same skin condition, with lesions on the legs and extensor sides of both arms. At least 1 of the patient's children, a woman aged 29 years, had the same keratotic lesions.
  • OMIM diseaseSee_Also:
  • OMIM diseaseAllelic_Variants:
  • OMIM diseaseCreation_Date: Victor A. McKusick: 6/4/1986
  • OMIM diseaseEdit_History_Data: alopez: 03/18/2004 mcapotos: 12/17/1999 mcapotos: 12/16/1999 mcapotos: 12/14/1999 terry: 12/13/1999 mgross: 12/3/1999 terry: 11/17/1999 mimadm: 6/25/1994 carol: 12/30/1992 supermim: 3/16/1992 supermim: 3/20/1990 ddp: 10/26/1989 marie: 3/25/1988
  • OMIM diseaseContributors: Victor A. McKusick - updated: 12/13/1999 Victor A. McKusick - updated: 11/17/1999
  • OMIM diseaseReference: 1. Carneiro, S. J.; Dickson, J. E.; Knox, J. M.: Familial dyskeratotic comedones. Arch. Derm. 105: 249-251, 1972. 2. Hall, J. R.; Holder, W.; Knox, J. M.; Knox, J. M.; Verani, R.: Familial dyskeratotic comedones: a report of three cases and review of the literature. J. Am. Acad. Derm. 17: 808-814, 1987. 3. Leppard, B. J.: Familial dyskeratotic comedones. Clin. Exp. Derm. 7: 329-332, 1982. 4. Rodin, H. H.; Blankenship, M. L.; Bernstein, G.: Diffuse familial comedones. Arch. Derm. 95: 145-146, 1967. 5. Van Geel, N. A. C.; Kockaert, M.; Neumann, H. A. M.: Familial dyskeratotic comedones. Brit. J. Derm. 140: 956-959, 1999.