Erythromelanosis Follicularis Faciei et Colli - A Cross-sectional, Descriptive study.

BACKGROUND: Erythromelanosis follicularis faciei et colli (EFFC) has always been reported as a rare disorder, and more data are needed to define its etiology and epidemiology.
OBJECTIVES: To present a descriptive study of this disorder from Kashmir and present a review of literature on the same.
MATERIALS AND METHODS: A cross-sectional, descriptive study was conducted on 14 patients with clinical lesions suggestive of EFFC, presenting to our dermatology outpatient clinic between May 2013 and April 2015. After obtaining informed consent from all patients, the demographic and clinical data were collected and punch biopsies were taken which after being fixed in formalin were stained for hematoxylin and eosin. The study was approved by Institutional Review Board.
RESULTS: Age of the patients ranged from 12 to 35 years with a mean age of 24.8 years. Females outnumbered males in a ratio of 1.3:1. Family history was positive in one case, and one patient had unilateral presentation. The classical triad of erythema, pigmentation, and follicular papules were present in 100% patients. Telangiectasias were observed in 28.57% patients only. Classical sites described were involved in all the cases (100%). In addition, lesions were found to involve eyebrows (28.57%), forehead (28.57%), upper lips (14.28%), and pinna (21.42%). Keratosis pilaris was present in all patients (100%); most common sites affected were upper arms and thighs. Two (14.28%) had generalized distribution. Histopathology in all correlated well with clinical findings.
CONCLUSION: EFFC has always been reported as a rare disorder, but we believe that it is not so. The reason could be either lack of awareness of the disease by the patient due to its generally asymptomatic nature or under-recognition by the physicians. Awareness about the disease on part of dermatologist and recognition of clinical presentation is important for correct diagnosis and to help find more effective therapeutic modalities.

What was known?

Erythromelanosis follicularis faciei et colli is an infrequently diagnosed disorder of unknown etiology classically presenting as a triad of hyperpigmentation, erythema, and follicular papules on face and neck. Characteristically, it affects males in adolescence or young adulthood.

Introduction

Erythromelanosis follicularis faciei et colli (EFFC), first recounted in Japanese youth by Kitamura et al., is a rare disorder of unknown etiology, characterized by the clinical triad of sharply demarcated bilateral and symmetrical patches of hyperpigmentation (reddish-brown pigmentation), erythema (with or without telangiectasia), follicular papules (follicular plugging) that begin on preauricular areas and cheeks and can gradually spread to the submandibular areas of the neck (in this case, the disease is called EFFC).[1] The skin texture is granular, with many pale follicular papules that can be appreciated as a rough surface on palpation and there is no evidence of atrophy or scarring. Diminished hairs (vellus and not terminal) are found in the affected sites. Keratosis pilaris (KP) occurring on the arms and shoulders is a usual associate. There are approximately 50 reported cases in the literature, most of them being males. For many years, it was thought to be a disease occurring only in males with ethnic cutaneous pigmentation. However, cases describing females have now been reported.[234]

Etiopathogenesis of EFFC is widely hypothesized and still remains to be clearly elucidated. The condition has to be differentiated from spectra of conditions. Atrophoderma vermiculatum is a follicular disorder that begins in childhood as a symmetric reticular atrophy of the cheeks and may extend to the ears or forehead, producing a honeycomb, worm-eaten appearance. Ulerythema ophryogenes is characterized by KP succeeded by atrophy. It starts with a reticular erythema and small horny papules involving eyebrows, forehead and cheeks resulting in scarring, atrophy, and alopecia. The above conditions are differentiated from EFFC by the presence of atrophy and scarring. Poikiloderma of civatte seen in middle-aged women is characterized by reddish-brown reticulated pigmentation with atrophy and telangectasias on the lateral cheeks and side of the neck, except the central submental region, shaded by the chin. The absence of follicular papules along with age of onset and distribution differentiate this from EFFC. Erythrose peribuccale pigmentare of Brocq (erythrosis pigmentosa mediofacialis) is common in women and is characterized by scaling and an orange-yellow-brown to erythematous discoloration around the nose and chin (middle of the face). KP atrophcans faciei or lichen pilaris faciei is not associated with well-defined patches of erythema and pigmentation although erythema may be seen around the papules that classically begins in infancy. Unilateral forms of EFFC must be differentiated from fixed pigmented erythema, berloque dermatitis, and rarely from nevus of Ota and Becker's nevus.

EFFC is a rare disorder with only a few cases reported from India. We report a clinicoepidemiological study of EFFC in 14 patients presenting with the classical triad of the disorder and present a literature review on this condition.

Materials and Methods

This was a cross-sectional descriptive study, conducted on 14 patients with clinical lesions suggestive of EFFC, attending our dermatology, venereology, and leprosy outpatient department of SMHS Hospital from May 2013 to April 2015. Clinical criteria for the diagnosing EFFC were presence of hyperpigmentation, erythema (with or without telangiectasia), and follicular papules involving mainly the preauricular areas with extension to the sides of the neck. An informed consent was taken from all the patients. We collected and compared the demographic and clinical data (patient's age, sex, lesion type, site, its onset, duration and progression, family history, lesion related symptoms such as photosensitivity, pruritus, and presence of KP). Punch biopsies were taken in all cases which after being fixed in formalin were stained for hematoxylin and eosin. The study was approved by the Institutional Review Board of our institution.

Results

Clinicodemographic profile

The clinical and demographic data of the 14 patients in this study are summarized in Tables 1-3. Age of the patients ranged from 12 to 35 years with a mean age of 24.8 years. Females outnumbered males in a ratio of 1.3:1. Family history was positive in one case with patients 3, 4 and 5 being siblings (all females). Disease onset in all patients was between 8 and 12 years of age. Disease duration varied from 2 to 14 years. There was no history of any topical application. History of atopy, photosensitivity, and pruritus was present in 1, 14, and 14 patients, respectively. While photosensitivity was mild, pruritus too was mild to moderate in severity. Mild xerosis associated with the lesions was seen in all patients.

Table 1

Clinicodemographic profile of patients with erythrmelanosis follicularis faciei et colli

Table 3

Distribution of lesions of erythrmelanosis follicularis faciei et colli and keratosis pilaris seen in our patients

On examination, the classical triad of erythema, pigmentation, and follicular papules were present in all 14 (100%) patients [Figure 1a-e]. Telangiectasias were observed in 4 (28.57%) patients only. Sites affected were preauricular areas in all with lesions extending to temporal areas (100%), cheeks (100%), chin (100%), submandibular area (100%), and neck (100%) [Figure 1a-d]. In addition, eyebrows were involved in 4 (28.57%), forehead in 4 (28.57%), pinna in 3 (21.42%), and upper lips in 2 (14.28%) patients [Figure 2a and 2c]. One patient (male) had unilateral distribution of lesions over the face. Prominent KP was present in all the patients (100%), with generalized involvement in some. Most common site being arms and thighs in 14 (100%) each, followed by upper and lower back in 5 (35.71%) each, buttocks in 3 (21.42%), forearms in 2 (14.28%), and legs in one (7.14%). At the sites of KP, perifollicular erythema was seen in 5 (35.71%) and pigmentation in 7 (50%) patients [Figure 2b and d]. A family history of KP was elicited in 8 (57.14%) patients.

Figure 1

(a-c) Erythromelanosis follicularis faciei et colli: Classical distribution of lesions over preauricular areas, cheeks, and chin spreading on to the temples and neck. (a-d) Triad of erythema, hyperpigmentation, and follicular papules. (e) Lesions involving upper lip

Figure 2

(a and c) Lesions involving forehead and pinna. (b and d) Keratosis pilaris of upper arms and back in patients of erythromelanosis follicularis faciei et colli

Signs of scarring, atrophy, and alopecia were not observed in any of the patients. In addition, in patient 2, a 15-year-old boy, acanthosis nigricans was present in flexures, slaty gray hyperpigmentation of other areas of the body such as nape of neck, abdomen, and upper back were also observed. Histopathology in all the patients was correlating well with the clinical findings and revealed follicular plugging, dilated infundibula, hyperkeratosis, increased pigmentation in the basal membrane and perivascular and periadnexal inflammatory infiltrate [Figure 3a and b].

Figure 3

(a) Hyperkeratosis, dilated infundibulla with follicular plugging, increased basal epidermal membrane with mild perivascular and periadenexal chronic inflammatory infiltrate (H and PE, ×4). (b) Hyperkeratosis, dilated infundibulla with follicular plugging, increased basal epidermal membrane with mild perivascular and periadenexal chronic inflammatory infiltrate. (H and PE, ×4)

Discussion

EFFC was thought to be a rare disease, but it is increasingly being described. Although this disorder was said to primarily affect males, following the Kitamura's description, there have been many reports of this disorder in women.[2345] Similar observation was made in our study where 8 out of 14 patients were females. All our patients gave history of lesions since early childhood, consistent with the earlier findings of Andersen[6] and Watt and Kaiser[7] In their study on 12 patients with EFFC, Jang et al.[8] also found the mean age of onset of the disease was 12.1 years. In corroboration with earlier reports,[12456] all of our patients had classical bilateral presentation except one male who presented with unilateral lesions. Cases with unilateral distribution have been described in the literature.[910]

The etiopathogenesis of EFFC is debatable. In 1993, Yañez et al. proposed an autosomal recessive mode of inheritance.[11] Several years later, Tüzün et al. thought that EFFC might be a polyetiologic disorder (e.g., familial, environmental).[12] A possibility of chromosomal instability syndromes has also been considered in which a hereditary component could interfere with its genesis.[1213] In our study, family history of similar complaints was present in one patient where the lesions were present in three siblings, all of them being females. This reinforces the genetic theory of EFFC etiology.

The disease usually runs an asymptomatic course, although some may complain of burning sensation and increased redness over the affected areas. Variations in symptoms, seasonal influences, and exacerbation by sunlight have been observed in a few reported cases.[914] All our patients complained of mild pruritus, burning sensation, and dryness with aggravation of symptoms on photo exposure. A fair complexion and regional differences could account for the variation in our study.

Besides the classical sites, eyebrows were involved in 4 patients, forehead in 4, auricles in 3, and upper lip in 2 patients. Seki et al. have reported involvement of eyebrows and auricles in a Japanese male.[15] Such atypical distribution demands differentiation of EFFC from conditions such as keratosis rubra pilaris atrophicans faciei (Brocq) as well as ulerythema ophryogenes. However, the presence of atrophy, scarring, and loss of eyebrows, which was not observed in any of our patients, serves to differentiate EFFC from them. Although vellus hair was less over some of the affected areas in our study, similar observations have been made independently by Karakatsanis et al., Watt and Kaiser, and Augustine and Jayaseelan.[5714] Juhlin and Alkemade have also described an overlap of EFFC with ulerythema ophryogenes.[16]

KP is known to be frequently associated with EFFC. A family history of KP has also been reported in the literature.[141718] Similar observations were made in our study where all (100%) patients had KP on different parts of the body. Two (14.28%) had generalized involvement, and a family history of KP was found in 8 (57.14%) patients. This coexistence and familial occurrence support a strong genetic relation for the two conditions.

Histopathology revealed follicular plugging, hyperkeratosis, increased pigmentation in the basal membrane, perivascular and periadnexal inflammatory infiltrate and follicular dilatation, and dilated blood vessels in the upper dermis and correlated well with the previous reports.[819] A direct correlation between the severity of the disease and the pigmentation of the basal layer and the percentage area of the inner spaces of the superficial dermal blood vessels was observed by Kim et al.[19]

So far, no treatment has proven satisfactory in the treatment of EFFC. Various options have been explored but lesions recur once the treatment is discontinued. Topicals keratolytic agents such as ammonium lactate (12%), tretinoin cream (0.05%, 1%), salicylic acid 2%, metronidazole, hydroquinone 4%, chemical peel have been tried.[45] Topical tacalcitol has been reported to be effective.[20] Intermittent oral isotretinoin and long-pulsed dye laser are other treatment options being considered.[5821] Avoidance of solar exposure and use of sunscreen is recommended.

Conclusion

Of the 14 patients diagnosed to have the disease, 8 (57.14%) were females. Family history was positive in 1 (7.14%) patient. One (7.14%) had unilateral presentation. Additional atypical sites involved were eyebrows, auricles, temples, forehead, and upper lip. KP was present in all (100%) and family history of KP was present in 8 (57.14%) patients.

EFFC appears to be more common than previously believed. Familial cases do occur, implicating a genetic origin of the disorder. However, the exact etiologic basis of the disorder needs to be clarified. Because the primary symptoms of EFFC are of a relatively mild cosmetic nature and the disease generally takes an asymptomatic course, very few EFFC patients actually request treatment. Furthermore, there is under-recognition of the disease by physicians. Awareness about the disease on the part of the dermatologist and recognition of the clinical presentation is important for correct diagnosis and to help find more effective therapeutic modalities.

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?

Erythromelanosis follicularis faciei et colli appears to be more common than previously believed

Females are almost equally affected

Besides the classical sites described, forehead, eyebrows, upper lips and pinna were found to be involved

Keratosis pilaris in generalized distribution

Associated acanthosis nigricans and slaty gray hyperpigmentation of other areas of the body such as nape of neck, abdomen, and upper back observed in one case.

Table 2

Clinical profile of patients with erythrmelanosis follicularis faciei et colli