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Journal of Dermatology and Clinical Research

Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEM): A Rare Case Report

Case Report | Open Access Volume 9 | Issue 1 |

  • 1. Department of Dermatology and Venereology, Hassan II University, Morocco
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Corresponding Authors
Fouzia Hali, Department of Dermatology and Venereology, CHU Ibn Rochd, 1, Rue des Hôpitaux, Casablanca, Morocco, Tel: 212-664-859732.
Abstract

EEM syndrome is a rare congenital disorder characterized by the association of ectodermal dysplasia, ectrodactyly and macular dystrophy. Only 17 cases have been reported so far, and autosomal recessive mode of inheritance has been proposed. We report a case of an 11-year-old boy presenting congenital alopecia universalis, ichthyotic lesions, dystrophic nails, ectrodactyly and photophobia, whose parents were not related and six maternal male relatives were affected by the same condition. Because the autosomal recessive mode of inheritance is unlikely in this case, an X-linked recessive mode is suggested, thus genetic heterogeneity of the disorder has to be considered.

Keywords

•    Ectodermal dysplasia

•    Ectrodactyly

•    Macular dystrophy

•    Autosomal recessive inheritance

•    X-Linked

Citation

Hali F, Bousmara R, Chiheb S, Lakhdar H (2021) Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEM): A Rare Case Report. J Dermatolog Clin Res 9(1): 1141.

ABBREVIATIONS

EEM: Ectodermal Dysplasia, Ectrodactyly, Macular Dystrophy; IFAP: Ichthyosis Follicularis, Alopecia, Photophobia.

INTRODUCTION

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly and macular dystrophy [1]. Since its first description in 1956, only 17 cases of this rare genodermatosis have been reported worldwide [1-9]. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1) [10]. Here, we report a severe presentation of the EEM syndrome, with additional clinical features. This case represents the first EEM syndrome reported from Africa, to the best of our knowledge.

CASE PRESENTATION

We report a case of an 11-year-old male child presented with the complaints of generalized ichthyosis, dystrophic nails, ectrodactyly and photophobia diagnosed as EMM syndrome. He had four siblings, of whom one brother showed the same clinical manifestations. His family history revealed similar cases in five male relatives (Figure 1).

Family pedigree.

Figure 1 Family pedigree.

He was born of healthy nonconsanguineous parents, delivery occurred at 30 weeks. Birth weight was 1,300 g. The medical history revealed a collodion membrane at birth and congenital alopecia involving the scalp, eyebrows and eyelashes.

At the age of one year, he developed epileptic spasms. The clinical and EEG data suggested West syndrome diagnosis, followed at the age of 3 years by generalized tonic- clonic seizures and childhood absence epilepsy. At 6 years of age, parents noted progressive nail deformities. He develops diffuse eczematous skin lesions by relapses and remissions, which occasionally become impetiginized accompagnied by a severe pruritus.

Physical examination showed facial dysmorphism with a prominent forehead, large ears, prominent chin, generalized alopecia with absence of scalp hair, eyebrows, eyelashes and body hair (Figure 2).

Figure 2 Photograph of the patient demonstrating generalized  ichthyotic erythroderma, alopecia, no eyebrows, and no eyelashes  with angular cheilitis and normal teeth.

Figure 2 Photograph of the patient demonstrating generalized ichthyotic erythroderma, alopecia, no eyebrows, and no eyelashes with angular cheilitis and normal teeth.

His teeth were normal. Ectrodactyly was noted on the left hand. He also showed anonychia, progressive hyperkeratosis with onychogryphosis (Figure 3).

Ectrodactyly in the right hand with Lobster’s claw  malformation. Note the dystrophic fingernails with pachyonychia.

Figure 3 Ectrodactyly in the right hand with Lobster’s claw malformation. Note the dystrophic fingernails with pachyonychia. Ectrodactyly in the right hand with Lobster’s claw malformation. Note the dystrophic fingernails with pachyonychia.

Sweating was normal.

He presented a generalized dry, thickened and scaling skin with lamellar ichthyosis characterized by large, hyperpigmented and quadrangular scales, on a background of erythematous skin, predominant over the scalp, lower legs, feet and the flexural surfaces (Figure 2-4). Red exanthema with generalized exfoliation prominent on the abdomen. The lesions were impetiginized especially in the scalp and abdomen (Figure 4).

Lamellar ichthyosis characterized by large, thick,  hyperpigmented and quadrangular scales, separated by narrow  fissures predominant over the scalp (A), lower legs, feet (B) and the  flexural surfaces (C).

Figure 4 Lamellar ichthyosis characterized by large, thick, hyperpigmented and quadrangular scales, separated by narrow fissures predominant over the scalp (A), lower legs, feet (B) and the flexural surfaces (C).

He also showed diffuse plantar keratoderma with painful fissures (Figure 5).

Diffuse plantar keratoderma with large fissures

Figure 5 Diffuse plantar keratoderma with large fissures.

Neurological examination was normal. External genitalia exam showed bilateral cryptorchidism. Ophthalmologic evaluation revealed a photophobia. Slit lamp examination revealed keratitis, total corneal neovascularization and bilateral central corneal opacities.

Echocardiogram and Abdominal sonography were unremarkable. His EEG revealed a generalized epilepsy. Dermatological examination of his mother was normal.

Complete blood count and immunological tests showed an increase in the number of leukocytes especially eosinophils (2,340/μl), a high serum IgE level (> 9407 IU/ml). Biochemical tests were all normal. Immunostaining for IgG, IgM and IgA was negative.

DISCUSSION

EEM syndrome is a rare inherited disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy (OMIM 225280) [11]. It was first reported by Albrectsen and Svendsen [1909] in 2 siblings: a 4-year-old boy and his 6-yearold sister of consanguineous parents presenting with sparse head hair, normal teeth, syndactyly and retinal degeneration [2]. Clinical manifestations identified in our patient were felt to be consistent with the EMM syndrome but with severe skin lesions, plantar keratoderma, seizures and increase of IgE level in serum never seen before in any other patient.

Balarin Silva et al. [3], reported a non-consanguineous Brazilian family in which two brothers presented the complete form of EEM syndrome with hypotrichosis, small and widely spaced teeth, bilateral syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina, but nail and body hair were normal. In this family, there was also another sib with syndactyly, as well as a first cousin with ectrodactyly. The clinical findings reported by Ohdo et al of a family of five patients and those reported by Senecky in two siblings were similar to our case but with an attenuated form [1,4]. Table I presents a summary of the clinical features of the previsouly reported cases. The EEM syndrome can be easily mistaken with other types of genodermatosis that also express ichtyosic lesions, dystrophic nails and ectrodactyly, such as IFAP syndrome.

Table 1: Summary of clinical features of present and previously reported cases of EMM syndrome.

Author

Csga

Sex

Age(y)

Skin

Hair

Teeth

Hands

Feet

Eyes

Nails

Albrectsen and Svendsen [2]

 

Yes

F

6

-

Hypotrichosis

Small,WS

Syndactyly

Normal

MD

-

M

4

-

Hypotrichosis

Normal

Ectrodactyly

webbing

MD

-

Hayakawa

 

et al [5]

 

Yes

 

F

 

41

 

-

 

Hypotrichosis

Small

 

Decayed

 

Ectrodactyly

 

-

 

MD

 

-

 

Ohdo et al [1]

 

-

3F

2M

16-10-39

45-42

 

-

 

Hypotrichosis

Small Anodontia

 

Ectrodactyly

Syndactyly Hypoplasia Ectrodactyly

 

MD

 

Kuster et al [6]

No

M

31

-

Hypotrichosis

-

Small

Small

MD

-

 

Balarin Silva

et al [3]

 

 

No

 

M

 

23

Café au

 

lait spots

 

Hypotrichosis

 

Small,WS

 

Syndactyly

 

Normal

 

MD

Norma

 

l

M

25

 

Hypotrichosis

Small,WS

Webbing

-

MD

-

 

Senecky et

al [4]

 

No

F

14

Normal

Hypotrichosis

Normal

Hypoplasia

-

MD

 

 

M

 

10

 

Normal

 

Hypotrichosis

 

Normal

Syndactyly

 

Hypoplasia

 

-

 

MD

 

-

Van Genderen MM et al

[9]

 

No

F

1

 

Hypotrichosis

Small, WS oligondontia

Syndactyly Ectrodactyly

-

MD

 

M

9m

-

Hypotrichosis

WS

Syndactyly Ectrodactyly

-

MD

-

Alexis G matos

et al [8]

Yes

F

15

-

Hypotrichosis

-

Syndactyly

-

MD

-

F

9

-

Hypotrichosis

-

Syndactyly

-

MD

-

 

Present study

 

No

 

M

 

11

LI

Eczemato us lesions PK

 

Alopecia totalis

 

Normal

 

Ectrodactyly

 

Normal

 

MD

Dystro phic nails

Abbreviations : Csg: Consanguinity; M : Male; F: Female; Y: Years; WS: Widely Spaced; MD: Macular Dystrophy; LI: Lamellar Ichthyosis; PK: Plantar

Keratoderma

                     

This condition differ from the EEM syndrome by the absence of pigmentary alterations of the ocular fundus [7].

There were some similarities to the Netherton syndrome. Our patient showed ichthyosiform erythroderma and elevated IgE levels but we did not find Trichorrhexis invaginata and patients with this syndrome show no limbs defect and no abnormalities of teeth. Though Trichorrhexis invaginata is highly specific, its absence does not exclude the diagnosis of Netherton syndrome [12]. It is imperative to understand the clinicopathological differences that help distinguish EEM syndrome from other diseases, in order to make the right diagnosis.

Cases described by Ohdo et al, Albrectsen and Svendsen show that the parents are consanguineous and that both sexes are affected [1,2]. Therefore it is thought that this syndrome is transmitted in an autosomal recessive mode, but according to the clinical presentation of our patient and those described by Balarin Silva [3], we suggest that a novel X-linked recessive mode of inheritance may be responsible, hence the possibility of genetic heterogeneity in this syndrome.

REFERENCES

1. Ohdo S, Hirayama K, Terawaki T. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. J Med Genet. 1983; 20: 52-57.

2. Albrectsen B, Svendsen IB. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Derm Venereol. 1956; 36: 96-101.

3. Balarin Silva V, Simo˜es AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. Ophthalmic Genet. 1999; 20: 95–99.

4. Senecky Y, Halpern GJ, Inbar D, Attias J, Shohat M. Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. Am J Med Genet. 2001; 101: 195–7.

5. Hayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: EEM syndrome [case report]. Ophthal Paediatr Genet. 1989; 10: 287–292.

6. W Küster, Majewski F, Hammerstein W. Alopecia, macular degeneration, and growth retardation: a new syndrome? Am J Med Hali F, et al. (2021) J Dermatolog Clin Res 9(1): 1141 (2021) 4/4 Central Hali F, Bousmara R, Chiheb S, Lakhdar H (2021) Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEM): A Rare Case Report. J Dermatolog Clin Res 9(1): 1141. Cite this article Genet. 1987; 28: 477–48.

7. MS Yildirim, TC Ogun, Ü Kami?. Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: A further contribution. Genet Counseling. 2006; 17: 149-53.

8. Alexis Galeno Matos, Viviane Pinho Gurgel, Pedro Javier Yugar, Alejandro Sebastian Yugar. Ophthalmological fndings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. Arq Bras Oftalmol. 2018; 81: 440-2.

9. Genderen MM, Dixon MJ, Riemslag FC, Stilma JS, Meire FM. The EEM syndrome, a ten-year follow-up of two new patients. In: Genderen MM. Electrophysiology in visually impaired children. Utrecht. Quasi Grafische. 2006 ; 83-93.

10. KW Kjaer, L Hansen, GC Schwabe, AP Marques-de-Faria, H Eiberg, S Mundlos, et al. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005; 42: 292–298.

11. McKusick VA. Mendelian Inheritance in Man.114021. The Johns Hopkins University-Sinai Medical Center. 1986.

12. Hafiz M Kashif Saleem, Muhammad Faizan Shahid, Amir Shahbaz, Atif Sohail, Muhammad Arslan Shahid, Issac Sachmechi. Netherton Syndrome: A Case Report and Review of Literature. Cureus. 2018; 10: e3070

Hali F, Bousmara R, Chiheb S, Lakhdar H (2021) Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEM): A Rare Case Report. J Dermatolog Clin Res 9(1): 1141.

Received : 20 Jul 2021
Accepted : 03 Aug 2021
Published : 06 Aug 2021
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