- OMIM ID: 120450
- OMIM diseaseName: %120450 COMEDONES, FAMILIAL DYSKERATOTIC
- OMIM diseaseClinical_Synopsis:
- 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
- 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:
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.