Erythromelanosis follicularis faciei et colli

Background

Erythromelanosis follicularis faciei et colli (EFFC) is a rare disease is characterized by hyperpigmentation, erythema and follicular papules on preauricular and cheek area.

SYNONYMS EFFC
Erythromelanosis

INCIDENCE <50 reported cases

AGE RANGE-MEDIAN Mean age 22.1 years

SEX (M:F)
Males more common

PATHOGENESIS CHARACTERIZATION

CHROMOSOMAL INSTABILITY

Familial erythromelanosis follicularis and chromosomal instability.

Tuzun Y, Wolf R, Tuzun B, Ozdemir M, Demirkesen C, Deviren A, Kotogyan A.

Department of Dermatology, Istanbul University Cerrahpasa Medical Faculty, Turkey.

J Eur Acad Dermatol Venereol 2000 Mar;15(2):150-2 Abstract quote

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.

CLINICAL VARIANTS CHARACTERIZATION

GENERAL

Erythromelanosis follicularis faciei et colli. Case reports.

Andersen BL

Br J Dermatol 1980 Mar;102(3):323-5 Abstract quote

Erythromelanosis follicularis of the face and neck has seldom been described in the literature. It is a condition of unknown aetiology. The clinical features are reddish-brown pigmentation, telangiectatic vessels, and pale follicular papules localized in the peri-auricular area. The disease is asymptomatic and has only been described in men.

This report records two patients with erythromelanosis follicularis of the face and neck, a boy and a young adult female.

Erythromelanosis follicularis faciei et colli. A case report.

Watt TL, Kaiser JS.

J Am Acad Dermatol 1981 Nov;5(5):533-4 Abstract quote

The thirteenth case of erythromelanosis follicularis on the face and neck is reported and attention is called to this entity. Characteristically, it affects males in adolescence or young adulthood. It begins symmetrically on the preauricular cheeks and imperceptibly spreads onto the temples and lateral aspects of the neck. It presents an irregularly marginated, red-brown pigmentation with fine telangiectasia, small, pale, slightly scaly, follicular papules, and patchy alopecia of vellus hair.

The histologic features, although nondiagnostic, correlate well with the clinical features. The possible relationship to keratosis pilaris rouge is discussed.

A case of erythromelanosis follicularis faciei with a unique distribution.

Seki T, Takahashi S, Morohashi M.

Department of Dermatology, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan.

J Dermatol 1991 Mar;18(3):167-70 Abstract quote

A 16-year-old Japanese boy with erythromelanosis follicularis faciei (EFF) with an unusual distribution is described. The clinical features of classic EFF consist of reddish-brown discoloration of the skin with fine follicular hyperkeratosis in the preauricular areas, and occasionally on the temples and the lateral aspects of the neck.

The present case is unique in that similar lesions also occurred on the auricles and eyebrows. Both light and electron microscopic findings of the lesions were consistent with the diagnosis of EFF.

OVERLAP SYNDROME WITH ERYTHROSIS PIGMENTOSA MEDIOFACIALIS

Erythrosis pigmentosa mediofacialis (Brocq) and erythromelanosis follicularis faciei et colli in the same patient.

Juhlin L, Alkemade H.

Department of Dermatology, University Hospital Nujmegen, The Netherlands.

Acta Derm Venereol 1999 Jan;79(1):65-6 Abstract quote

Erythrosis pigmentosa peribuccalis (Brocq) (or erythrosis pigmentosa mediofacialis) and erythromelanosis follicularis faciei et colli, have been regarded as different disorders, mainly because the first occurs on the mediofacial area and is common in women and the second mostly occurs pre-auricularly in men. Both conditions show histological signs of abnormal follicular keratinization with teleangiectasia and round cell infiltrate. An increase in the level of melanin has been seen in some patients.

We describe here a woman in whom lesions started in the middle of the face and later became evident in the pre-auricular area. This suggests that the two conditions are in fact the same disease. As a neutral term for this not uncommon disorder we propose erythrosis pigmentosa faciei et colli.

FAMILIAL

Familial erythromelanosis follicularis faciei et colli--an autosomal recessive mode of inheritance.

Yanez S, Velasco JA, Gonzalez MP.

Department of Dermatology, Clinical Hospital, University of Salamanca, Spain.

Clin Exp Dermatol 1993 May;18(3):283-5 Abstract quote

Two cases of erythromelanosis follicularis faciei et colli in one family, affecting a brother and sister are described.

In these cases erythromelanosis follicularis faciei et colli, a process of unknown aetiology, seems to have a clear hereditary component--autosomal recessive mode of inheritance--a feature which, as far as we know, has not been reported in the literature.

UNILATERAL

Unilateral erythromelanosis follicularis faciei et colli.

Borkovic SP, Schwartz RA, McNutt NS.

Cutis 1984 Feb;33(2):163-70 Abstract quote

Clinical features and histopathologic findings are described in this case of erythromelanosis follicularis faciei et colli in a 30-year-old man of Chinese descent. This is the fourteenth case in the world literature and the first which is unilateral.

Electron microscopic examination revealed abnormalities consisting of a homogeneous mass of pigment in the center of the melanosome and a stippled appearance to the periphery of the organelle. In addition, many of the melanosomes appeared to be abnormally large.

WOMEN

Unilateral erythromelanosis follicularis faciei et colli in a young girl.

McGillis ST, Tuthill RJ, Ratz JL, Richards SW.

Department of Dermatology, Cleveland Clinic Foundation, Ohio.

J Am Acad Dermatol 1991 Aug;25(2 Pt 2):430-2 Abstract quote

Erythromelanosis follicularis faciei et colli is uncommon. Fewer than 20 cases have been reported. Except for one case in a woman and one case of unilateral distribution, all other reported cases have been bilateral in young male patients.

We report the first case of unilateral distribution in a white girl.

Erythromelanosis follicularis faciei in women.

Warren FM, Davis LS.

Department of Dermatology, Medical College of Georgia, Augusta 30912, USA.

J Am Acad Dermatol 1995 May;32(5 Pt 2):863-6 Abstract quote

Erythromelanosis follicularis faciei is an infrequently diagnosed disorder thought to be more common in men, with only seven reported cases in women. This condition consists of the clinical triad of well-demarcated erythema, hyperpigmentation, and follicular plugging on the face.

We describe two additional female patients with this condition and present a review of the literature.

HISTOLOGICAL TYPES CHARACTERIZATION

General

VARIANTS

Quantitative histopathologic findings of erythromelanosis follicularis faciei et colli

Min Gi Kim, etal.

J Cutan Pathol 2001;28 (3):160-164

Background: Even though only 33 cases of Erythromelanosis follicularis faciei et colli (EFFC) have been reported around the world, there have been no quantitative clinicopathological studies yet.The purpose of this study is to examine quantitatively clinical and histopathological evaluations of EFFC using image analysis system.

Method: Clinical grading of its severity was assessed. Many parameters of the horny layer, granular layer, epidermis and the dermal components were measured and compared to controls by image analysis. The correlation between the histological findings and clinical grading was assessed.

Result: Thickness and compactness of the horny layer was significantly increased in EFFC. There were no significant differences in the number of melanocytes and severity of pigmentation between EFFC and controls; however, melanization was slightly increased in EFFC. The percent area of the superficial blood vessels was significantly increased and correlated with visual grading of erythema. Diameters of hair shafts and outer root sheaths, and thickness of inner root sheaths were decreased. Basal layer pigmentation was correlated with the clinical features of pigmentation.

Conclusion: This study supported the findings of hyperkeratosis and dilatation of superficial dermal blood vessels in EFFC. The pigmentation of the basal layer and the percent area of the inner spaces of the superficial dermal blood vessels may reflect the clinical severity more than the other parameters. Although follicular plugging is a characteristic clinical feature of EFFC, enlargement of hair follicles and hair shafts were not characteristic pathologic changes EFFC in our study.

Br J Dermatol1980; 102: 323.

Commonly Used Terms

Skin Rash

Last Updated 4/9/2001

SYNONYMS	EFFC Erythromelanosis
INCIDENCE	<50 reported cases
AGE RANGE-MEDIAN	Mean age 22.1 years
SEX (M:F)	Males more common

HISTOLOGICAL TYPES	CHARACTERIZATION
General
VARIANTS
Quantitative histopathologic findings of erythromelanosis follicularis faciei et colli Min Gi Kim, etal.	J Cutan Pathol 2001;28 (3):160-164 Background: Even though only 33 cases of Erythromelanosis follicularis faciei et colli (EFFC) have been reported around the world, there have been no quantitative clinicopathological studies yet.The purpose of this study is to examine quantitatively clinical and histopathological evaluations of EFFC using image analysis system. Method: Clinical grading of its severity was assessed. Many parameters of the horny layer, granular layer, epidermis and the dermal components were measured and compared to controls by image analysis. The correlation between the histological findings and clinical grading was assessed. Result: Thickness and compactness of the horny layer was significantly increased in EFFC. There were no significant differences in the number of melanocytes and severity of pigmentation between EFFC and controls; however, melanization was slightly increased in EFFC. The percent area of the superficial blood vessels was significantly increased and correlated with visual grading of erythema. Diameters of hair shafts and outer root sheaths, and thickness of inner root sheaths were decreased. Basal layer pigmentation was correlated with the clinical features of pigmentation. Conclusion: This study supported the findings of hyperkeratosis and dilatation of superficial dermal blood vessels in EFFC. The pigmentation of the basal layer and the percent area of the inner spaces of the superficial dermal blood vessels may reflect the clinical severity more than the other parameters. Although follicular plugging is a characteristic clinical feature of EFFC, enlargement of hair follicles and hair shafts were not characteristic pathologic changes EFFC in our study.