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Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly

  • Author(s): Sankhyan, Naveen;
  • Kaushal, Ram Krishan;
  • Sarin, Sandip
  • et al.
Main Content

Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly
Naveen Sankhyan1, Ram Krishan Kaushal1, Sandip Sarin2
Dermatology Online Journal 12 (4): 5

1. Department of Pediatrics, Indira Gandhi Medical College. nsankhyan@rediffmail.com
2. Department of Dermatology, Indira Gandhi Medical College,


Abstract

The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.



Clinical synopsis

A 44-month-old girl presented to us with unilateral cleft lip. She was second among four offspring of a healthy, non-consanguineous couple. At the time of conception, her mother and father were aged 23 and 24 years respectively. There was no history of toxin, medications, or radiation exposure during pregnancy; delivery at term was uneventful.

Examination revealed that her weight was 10kg ( < 3rd centile), height 88 cm(< 3rd centile), head circumference of 46.4 cm, mid arm circumference of 12 cm, with upper to lower segment ratio of 1:1.1. Head showed prominent frontal and parietal eminences. The skin was dry and scaly. The scalp hair was sparse, lightly pigmented, lusterless, and dry; with frontal alopecia (Figs. 1 and 2). Eyebrows were also thin and sparse. The nails were normal. A cleft lip was present on the left side; bilateral minimal anterior clefting of gum margins and microdontia were present.


Figure 1Figure 2
Figure 1. Note the sparse scalp hair and eye brows with cleft lip
Figure 2. Thin, curly, sparse hair on posterior scalp

Ophthalmological evaluation revealed loss of cilia with a wrinkled appearance of upper and lower lids on both sides and absence of lacrimal puncta. The visual acuity, cornea, fundus, inner and outer canthal distances were normal. Skeletal examination revealed right radial polysyndactyly and fixed flexion deformity of left little finger. Except for short stubby appearance, the toes were normal. A blind dermal cleft was observed in the sacral region. The developmental status was appropriate for age.


Figure 3Figure 4
Figure 3. Polysyndactyly of right thumb and flexion deformity of left little finger
Figure 4. Dermal sinus in sacral region

X-Rays of the hands were consistent with the physical findings; spine X-ray ruled out spina bifida. Ultrasonography of the abdomen did not reveal associated genitourinary abnormalities. Audiometery revealed a mild bilateral conductive deafness. Skin biopsy was consistent with hidrotic form of ectodermal dysplasia. It showed absence of rete ridge pattern, and marked hypoplasia of hair follicles and sebaceous glands. However, the pattern and distribution of sweat gland ducts was normal.

There was history of cleft lip and sparse hair in the elder male sibling, who died at the age of 3 months with a febrile illness. A younger apparently normal female sibling died of acute respiratory illness at age 4 months. The surviving youngest female sibling, parents and other family members did not have cutaneous, facial or skeletal defects.


Comments

The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly, cleft lip/palate, and tear duct anomalies [1]. The expression of this syndrome may be quite variable. In a review of 230 published cases (116 familial and 114 sporadic), ectrodactyly was found in 84 percent, ectodermal dysplasia in 77 percent, clefting in 68 percent, and anomalies of lacrimal ducts in 59 percent. Urogenital defects were reported in 52 patients and conductive hearing loss in 33. Isolated cases were more severely affected than familial cases [1].

Ectrodactyly refers to variable deformities of hand and feet having a common central split or cleft, but its occurrence is not obligatory [2]. Anneren et al. [3] suggested that low birth weight and polysyndactyly (without ectrodactyly) may be features of the EEC syndrome. In agreement with this, our case had right radial polysyndactyly, although data on birth weight was unavailable. Fryns et al. [4] suggested that characteristic facial morphology with relative mid-facial hypoplasia can be present in EEC patients with absent ectrodactyly. However, in this case the absence of both ectrodactyly and the facial dysmorphology highlights the spectrum of variability in this syndrome.

Ectodermal dysplasia may manifest as diffuse dryness and hypopigmentation of skin, hypopigmented and scanty hair; dysplastic nails, and abnormal dentition. Opthalmologic manifestations include entropion, telecanthus, absence of lacrimal puncta, absent lashes, blepharitis, corneal opacification, and neovascularization [5]. In our patient hypohydrotic ectodermal dysplasia along with hair, dental, and lacrimal abnormalities; a conductive hearing loss was present. To the best of our knowledge, the dermal sinus seen in our patient has not been reported in association with EEC syndrome.

References

1. Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol. 1996 Apr;5(2):115-27. Review.PubMed

2. Kuster W, Majewski F, Meinecke P. EEC syndrome without ectrodactyly? Report of 8 cases. Clin Genet. 1985 Aug;28(2):130-5. PubMed

3. Anneren G, Andersson T, Lindgren PG, Kjartansson S. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet. 1991 Oct;40(4):257-62. PubMed

4. Fryns JP, Legius E, Dereymaeker AM, Van den Berghe H. EEC syndrome without ectrodactyly: report of two new families. J Med Genet. 1990 Mar;27(3):165-8.PubMed

5. Baum JL , Bull MJ. Ocular manifestations of the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.Am J Ophthalmol. 1974 Aug; 78(2):211-6. PubMed

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