Familial erythromelanosis follicularis and chromosomal instability

Abstract

We report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. Skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.

An observational analysis of erythromelanosis follicularis faciei et colli

“…Tuzun et al. 11 suggested that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.…”

Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities

“…Erythromelanosis follicularis faciei et colli is a rare disease of unknown etiology, but an autosomal recessive pattern of inheritance and familial cases [2][3][4][5], and spontaneous mutation and chromosomal instability have been reported in some cases [5,6]. This condition was initially reported in young male patients, but a recent study showed nearly equal incidence between males and females [4].…”

Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia

“…1 A few more cases have been reported from different parts of the world, but the total number of reported cases worldwide is only about a hundred. 1,19 The clinical appearance consisted of sharply demarcated patches of erythema, hyperpigmentation and follicular plugging with or without telangiectasia. 1,19 The cheeks and periauricular area were commonly involved with extension of lesions to the side of neck.…”

“…1,19 The clinical appearance consisted of sharply demarcated patches of erythema, hyperpigmentation and follicular plugging with or without telangiectasia. 1,19 The cheeks and periauricular area were commonly involved with extension of lesions to the side of neck. Involvement of the auricle and eyebrows has been regarded as unique and atypical 9,10 but in a recent report from Iran, it was common.…”

“…familial and environmental, have been suggested. 13,19 Autonomic nerve dysfunction has been proposed. 2 Cold, heat, exercise, emotional upset and exposure to the sun were reported as aggravating factors.…”