Co-occurrence of Erythrosis Pigmentosa Mediofacialis and Erythromelanosis Follicularis Faciei et Colli Associated with Keratosis Pilaris in an Adolescent Female.

Erythromelanosis follicularis faciei et colli (EFFC) is a rare disease characterized by a triad of reddish-brown pigmentation, erythema and follicular papules localized on face and neck and is usually described in males. Erythrosis pigmentosa mediofacialis (also known as Brocq or erythrosis pigmentosa peribuccalis) is a similar disorder of the mediofacial area but with female predominance. We report a case of simultaneous occurrence of erythrosis pigmentosa peribuccalis and EFFC associated with keratosis pilaris in an adolescent female.

What was known?

Both EFFC and EPM are rare disorders of inflammatory follicular keratotic syndrome.

Introduction

Erythromelanosis follicularis faciei et colli (EFFC) is an unusual disease characterized by a triad of well-demarcated erythema, hyperpigmentation, and follicular papules on face, primarily on the preauricular areas extending to the sides of the neck. The condition is mostly described in males and less commonly in females.[1] Erythrosis pigmentosa peribuccalis (erythrosis pigmentosa mediofacialis [EPM]) is a disorder of the mediofacial area and is commoner in women. EFFC may be seen associated with keratosis pilaris of the upper extremities and trunk.[2] We present rare co-occurrence of EFFC and EPM in a female patient along with the striking presence of keratosis pilaris.

Case Report

A 12-year-old female presented with redness and roughness on face and neck. Lesions started developing on forehead around 5 years of age and gradually involved the area around the mouth. Redness increased on exposure to the sun. About 4 years later, the patient noticed similar lesions over cheeks which gradually extended over the neck. The patient was otherwise asymptomatic and family history was not contributory.

Examination revealed well-defined erythema over forehead, peribuccal area, malar region, and cheeks, along with follicular papules and hyperpigmentation [Figure 1]. Skin texture was granular and dry. There was no atrophy or scarring. Lesions of similar morphology were present over the preauricular area, ear lobules, and neck [Figure 2]. The patient also had partial loss of both lateral eyebrows. There was keratosis pilaris over shoulders [Figure 3]. Systemic examination and routine laboratory investigations, including complete blood count, renal and liver function tests, and chest X-ray, were within normal limits.

Figure 1

Bilateral erythema, follicular papules, and hyperpigmentation on the forehead, malar area and peribuccal area with notable loss of lateral eyebrows

Figure 2

Lesion extending on to the preauricular area, ear lobules, and neck

Figure 3

Keratotic papules over arm

Two biopsies were taken, one from preauricular area and second from forehead. Both showed similar findings with hyperkeratosis, follicular plugging, increased pigmentation in the basal layer and mild perivascular lymphocytic infiltrate [Figure 4]. Diagnosis of concurrent occurrence of EPM and EFFC along with keratosis pilaris was made on the basis of clinical and histopathological findings. The patient was advised to apply tretinoin 0.025% cream, emollient, and sunscreen. After 3 months of follow-up, pigmentation and follicular papules decreased significantly with little effect on erythema.

Figure 4

Biopsy showing hyperkeratosis, follicular plugging, increased pigmentation in the basal layer and mild perivascular lymphocytic infiltrate (H and E, ×100)

Discussion

In 1923, Brocq described patients with rough and dry, yellow-brown to erythematous lesions around the nose and on the chin as erythrosis pigmentosa peribuccalis. Since then the nomenclature of the lesions has evolved from erythrose pigmentaire faciale, to dermatose pigmentée médiofaciale, erythrosis pigmentosaperibuccalis, erythrosis pigmentata faciei, erythromelanosis follicularis faciei and erythrosis pigmentosa faciei et colli.

Originally described by Kitamura, in 1960, EFFC is a rare syndrome of unknown origin characterized by triad of well-demarcated erythema with telangiectasia, hyperpigmentation and follicular papules present in front of, beneath and behind the ear, with extension on to the side of the neck, hence the name et colli (“et” is Latin for “and;” “colli” is Latin for “neck”). The reddish-brown lesions in EFFC become pale on diascopy.[3] No lesions are seen on the forehead.[4] This disorder generally presents in male adolescents but females can also be affected. Patchy alopecia of vellus hair may be present.[5] Etiology of EFFC has been variably described as sporadic to familial and autosomal recessive inheritance. EFFC can be associated with keratosis pilaris on arms and shoulders, suggesting that it could be a variant of keratosis pilaris rubra.[6]

Juhlin and Alkemade[7] described both EPM and EFFC in one patient and postulated both conditions as spectrum of the same disease. Familial occurrence of EPM has been reported. Indisputably, environmental factors such as exposure to ultraviolet or fragrance, or a combination of both, may also be factors involved in the pathogenesis of EPM.

Histopathological features of both the conditions are nonspecific but they correlate well with clinical findings. Hyperkeratosis, follicular plugging, pigmentation of basal cell layer, and perivascular lymphocytic infiltrate are typically seen. Hair follicles are enlarged, especially in the infundibular region, sebaceous glands are hypertrophic and lymphocytic infiltrate is present around adnexa.[3]

EFFC and EPM should be differentiated from keratosis pilaris atrophicans faciei and its variant (i.e., ulerythema ophryogenes), atrophoderma vermiculata, poikiloderma of Civatte, lichen spinulosus, and keratosis pilaris.[8] The differential diagnosis and their description are summarized in Table 1.

Table 1

Differential diagnosis of erthromelanosis follicularis faciei et colli and erythrosis pigmentosa mediofacialis

Treatment of EFFC/EPM is so far not satisfactory. Topical tretinoin and various keratolytics including urea, ammonium lactate, glycolic acid, or salicylic acid can be topically used. Oral isotretinoin can be given in severe cases. A recent study revealed topical tacalcitol as a good therapeutic option.[9] Li et al. found dual wavelength laser system using pulsed dye laser and neodymium-doped yttrium aluminum garnet laser as an effective treatment of EFFC.[10]

To conclude, EFFC and EPM are rare disorders of unknown etiology. Although their clinical and histopathological findings are similar, the site of involvement and gender predominance help to differentiate between the two. We could not find any other published reports of co-occurrence of EFFC and EPM in same patient. Moreover, the associated keratosis pilaris makes the case even rarer.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

What is new?

Co-occurrence of EFFC and EPM along with keratosis pilaris is a rare presentation and probably suggests that these disorders form a spectrum of a common disease process.