Erythromelanosis follicularis faciei et colli

CASE DESCRIPTION

An otherwise healthy 8-year-old girl presented with hyperpigmentation and an itchy scaly rash over both cheeks for the past 4 years. Examination revealed a reddish-brown sharply demarcated pigmented patch studded with numerous pinhead-sized skin-coloured follicular papules distributed over the preauricular and mandibular region of bilateral cheeks (Figure 1). Follicular keratotic papules surrounded by a rim of erythema—keratosis pilaris (KP)—was noted over the lateral aspect of both arms. Other mucocutaneous sites and systemic examination was noncontributory. Her mother too had similar KP lesions over her upper outer arms. An elder sister and other family members were unaffected. A biopsy from the facial lesion demonstrated orthokeratotic hyperkeratosis, follicular plugging, increased basal layer pigmentation, dilatation of upper dermal vessels, and mild lymphocytic infiltration. What is the diagnosis?

Figure 1.

Well-demarcated reddish-brown pigmented patch studded with numerous pinhead-sized skin-coloured follicular papules over cheek.

DIAGNOSIS

Based on characteristic clinical and corroborative histopathological features, a diagnosis of erythromelanosis follicularis faciei et colli (EFFC) was established. The patient was advised to use topical tretinoin (0.025%) cream, which led to partial resolution of lesions.

DISCUSSION

EFFC is a rare, sporadic erythematous pigmentary disease involving the hair follicles. EFFC was first described in 1960 by Kitamura in Japanese men (1). Later, Mishima and Reuder (2) observed this condition in Caucasian males; Asian and Indian patients have been preferentially described since. Although the precise etiology remains unknown, a genetic and hereditary background with autosomal recessive mode of inheritance, sporadic mutation (3), and autonomic nerve dysfunction (4) have been described as proposed mechanisms. The triad of erythema, hyperpigmentation and follicular papules over face and neck characterizes this condition. Adolescent/late childhood-onset, male preponderance, and bilateral distribution are archetypal, but female patients and unilateral affection have been reported (1,5).

Presence of KP elsewhere in the body remains a common association with EFFC and it is even considered to be a variant of keratosis rubra pilaris (6).

Histopathology serves to augment the clinical diagnosis. Such cases show hyperkeratosis, enlarged hair follicles, especially in the infundibular area with thick shaft. Dilatation of blood vessels in the upper dermis correlates with the visual grading of associated erythema (7).

EFFC ought to be differentiated from keratosis rubra pilaris (lacks hyperpigmentation), ulerythema ophryogenes (erythematous follicular papules leading to follicular atrophy and scarring alopecia of lateral eyebrows), atrophoderma vermiculatum (pitted atrophic depressions in a worm-eaten appearance), poikiloderma of Civatte (reticulate pigmentation, atrophy, papules, and hair loss over face and upper chest), Riehl’s melanosis (facial pigmentation due to sensitizing chemicals in cosmetics), pigmented peribuccal erythrosis of Brocq (scaling and pigmentation around nose and chin), acneform eruptions, and rarely Becker’s nevus (circumscribed hyperpigmentation with hypertrichosis that commonly manifests at puberty).

Treatment for EFFC has had limited success. Various topical agents (ammonium lactate, tretinoin, urea cream, vitamin C, tacalcitrol ointment) provide mild improvement, but their evidence is merely anecdotal. Oral isotretinoin has been employed in severe cases. Laser therapy for the background erythema and hyperpigmentation require multiple sessions, with variable outcomes (8).

EFFC, although rare, is a much underdiagnosed condition due to its general asymptomatic course and thereby warrants more acknowledgement. The purpose of documenting this condition is to raise awareness among physicians to ensure correct diagnosis and offer effective therapeutic modalities.

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Potential Conflicts of Interest: All authors: No reported conflicts of interest. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed.