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Year : 2019  |  Volume : 1  |  Issue : 1  |  Page : 6

Keratoconus in hypohidrotic ectodermal dysplasia

Department of Ophthalmology, Catholic University of Campinas, São Paulo, Brazil

Date of Submission26-Jun-2019
Date of Acceptance27-Jun-2019
Date of Web Publication18-Sep-2019

Correspondence Address:
Dr. Carolina Peres Batalha
Pontifícia Universidade Católica de Campinas, Faculdade de Ciências Médicas, Av. John Boyd Dunlop, s/n Jardim Ipaussurama Campinas, São Paulo - 13060904
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2219-4665.266573

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The hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease characterized by the absence or deficiency function of the ectodermal derivatives. Ocular involvement includes dry eyes, cataract, blefaritis, and alterations of meibomian glands. However, keratoconus has not been included as a manifestation in the literature. We report the case of a 17-year-old male who presented HED and keratoconus, an ocular manifestation seldomly related to this syndrome. The patient was submitted to a contact lens fitting, and the final visual acuity was 0.1 logMAR in both eyes. Therefore, to the best of our knowledge, our patient can be considered the fourth patient diagnosed with keratoconus and HED simultaneously worldwide.

The uniqueness and rarity of this syndrome associated with keratoconus, as well as the satisfactory contact lens fitting, motivated this case report, which can provide useful information and alert to this possible etiological association.

Keywords: Contact lens, hypohidrotic ectodermal dysplasia, keratoconus

How to cite this article:
Batalha CP, Andrade Sobrinho MV, Hoehr GC, Selegatto LT, Amade RB. Keratoconus in hypohidrotic ectodermal dysplasia. Pan Am J Ophthalmol 2019;1:6

How to cite this URL:
Batalha CP, Andrade Sobrinho MV, Hoehr GC, Selegatto LT, Amade RB. Keratoconus in hypohidrotic ectodermal dysplasia. Pan Am J Ophthalmol [serial online] 2019 [cited 2021 Aug 1];1:6. Available from: https://www.thepajo.org/text.asp?2019/1/1/6/266573

  Introduction Top

The ectodermal dysplasia is a rare syndrome of a genetic disorder characterized by the absence or deficiency in function of at least two derivatives of the ectoderm, such as teeth, hair, nails, and sweat glands. There are more than 150 ectodermal dysplasias registered, and the most common type is the hypohidrotic ectodermal dysplasia (HED).[1] This is a rare X-linked recessive syndrome in which occurs a mutation in a transmembrane mobile protein – ectodysplasin A [2] that involves ectodermal structures and their annexes. It leads mainly to hypohidrosis, hypotrychosis, and hypodontia,[3] but it can also occasionally lead to heat intolerance, excessively dry skin due to the absence of sweat glands, and conically shaped or absent teeth. There are also some otolaryngological manifestations caused by the hypoplasia of the mucous glands, resulting in several infections: atrophic rhinitis, pharyngitis, laryngitis, laryngeal mucous hyposecretion, vocal cord palsy, or voice changes.[4]

Ectodermal dysplasia was first observed by Darwin, in 1838; nonetheless, Christ defined it as a congenital ectodermal defect in 1913. As an X-linked recessive mutation, it affects often males than females, As an Xlinked recessive mutation, it often affects more males than females, because in females both X chromosomes need to be affected to show any signs or symptoms. Therefore, females simply carry the gene, for most of the time, while males present the complete syndrome when bearing an affected X chromosome.[5]

Ocular involvement of ectodermal dysplasia includes dry eyes, cortical and subcapsular cataract, blefaritis, alterations or absence of  Meibomian gland More Detailss, ankyloblepharon, stenosis lacrimal puncta, epithelial keratitis, corneal erosion and neovascularization, haze, scar, myopia, vitreous fluid, and retinal pigmentation. However, keratoconus has not been included as a manifestation, such as the ones cited above.[6]

The word keratoconus comes from the Greek words kerato (cornea) and konos (cone), meaning cone-shaped protrusion of the cornea. It was first described in 1854 by Nottingham as a disease that produces corneal thinning and the first contact lenses used for correction were described by Adolf Fick in 1888. Keratoconus is a noninflammatory corneal dystrophy condition with progressive thinning and steepening of the central and/or paracentral cornea, bearing relatively normal periphery. The apical protrusion causes irregular astigmatism, and the progression of the disease leads to scarring and important loss in visual acuity. Usually, it manifests during the second decade of life, affecting both genders and all ethnicities in the same manner. The estimated prevalence in the general population is between 20 and 230/100,000. Rabinowitz,[7] in 1998, made a major review where he exposed all the diseases associated with keratoconus, though HED was not contemplated in this work.

Here, we describe a case report that presented an ocular manifestation seldomly related to HED.

  Case Report Top

A 17-year-old male student was referred from the department of dermatology to the department of ophthalmology for a screening. He was diagnosed with ectodermal anidrotic dysplasia when he was 8 months and recently he presented progressive and painless decrease of visual acuity.

His medical history shows several infections during his childhood and he is also asthmatic, with crises occurring twice a month. Although the genetic characteristic of the syndrome is extremely relevant in such cases, it was not possible to identify his family genetic background because the patient was adopted.

On his physical examination, he presented dry skin; sparse hairs, scanty eyelashes and scanty eyebrows; hypochromic lesions all over the body; thin, dry, and eczematous skin around the eyes and face; and delayed dentition with malformed teeth [Figure 1] and [Figure 2].
Figure 1: Inspection

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Figure 2: Inspection and teeth

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On ocular examination, he presented the following:

Visual acuity (without correction): Right eye (OD) count fingers 50 cm; left eye (OS) count fingers 20 cm.

Static refraction: OD 25.00; OS 19.00.

Biomicroscopy: calm eye, breakup time 3 s, apical corneal thinning, without opacities, blefaritis, transparent lens, positive Munson sign.

Fundoscopy and intraocular pressure: without changes.

Topography OD: K1 62.25 × K2 80.60 and OS: K1 51.89 × K2 61.09 [Figure 3].
Figure 3: Topography both eyes

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The patient was diagnosed with keratoconus, and he was submitted to a contact lens fitting. The measurements of the final lens are as follows:

OD: Scleral (Zen Lens – Solotica). Base curve 6.90 D/diameter 17 mm/dioptric power − 7.25, Sag 5.50, flat 3.

OS: Scleral (Zen Lens – Solotica). Base curve 7.30 D/diameter 17 mm/dioptric power − 3.25, Sag 5.20, flat 3.

Visual acuity with scleral contact lens was 20/25 (0.1 logMAR) in both eyes.

He was kept under regular medical monitoring in the department of dermatology and ophthalmology.

  Discussion Top

Ocular anomalies are less frequently observed in patients with ectodermal dysplasia when compared to the other symptoms. Among the abnormalities, we can mention dry eyes, eyebrows and eyelashes diminution, anomalies of the lacrimal system, corneal opacification, and the meibomian gland deformity.[6]

Ocular symptoms as alterations on ocular symptoms seem to gain importance later in life. A study of 36 patients with ectodermal dysplasia showed that patients with corneal changes were older than the group as a whole, with keratopathy posing as the most disabling sign of the ectodermal dysplasia syndrome. It is the result of an altered lipid layer of the tear film, and in fact, it can be considered as an indirect consequence of the meibomian gland alteration.[6]

In his major review in 1998, Robinowitz concluded that keratoconus is most commonly an isolated disorder; even thought, it has been reported in association with “X” diseases, HED cannot be found among them. Despite intensive clinical and laboratory investigation, the etiology of keratoconus remains unclear. Clinical studies have provided strong indications of a major role for genes in its etiology.[7]

In 2004, Simon and Grinbaum described a patient with anhidrotic ectodermal dysplasia and severe dry eyes that had a spontaneous corneal perforation in his OD and keratoconus in the OS, which were revealed during a routine topography. This accidental discovery was apparently the first suggestion of the association between the two diseases found in the literature.[8]

In 2012, Piccione et al. described an Italian patient at the age of 11 years old who presented with keratoconus grade III, very low tear secretion rate, and visual impairment.[9] The affected gene of the syndrome – ectodisplasin A – leads us to understand the classical manifestation of HED. However, the association presented on this case – keratoconus and HED – still remains unknown. The author had already proposed the same genetic bases for the occurrence of keratoconus in patients with HED;[9] but so far, there are no studies that prove this hypothesis.

In 2018, Penumetcha [10] reported the case of a 17-year-old male diagnosed with HED, which is shown in ophthalmological evaluation suggestive of OD severe keratoconus and central scarring secondary to acute hydrops. Treatment tuck in lamellar keratoplasty was done for this eye.

Therefore, to the best of our knowledge, our patient can be considered the fourth patient diagnosed with keratoconus and HED simultaneously in the world.

The uniqueness and rarity of this syndrome associated with keratoconus, as well as the satisfactory contact lens fitting obtained in our service, motivated this case report, which can provide useful information and alert to this possible etiological association.

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


Conflicts of interest

There are no conflicts of interest.

  References Top

McKusick V. Mendelian inheritance in man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes. Baltimore: The John Hopkins University Press; 1988. p. 137, 215-7, 1784, 1816-7, 3404-6.  Back to cited text no. 1
Drögemüller C, Distl O, Leeb T. X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genet Sel Evol 2003;35 Suppl 1:S137-45.  Back to cited text no. 2
Kupietzky A, Houpt M. Hypohidrotic ectodermal dysplasia: Characteristics and treatment. Quintessence Int 1995;26:285-91.  Back to cited text no. 3
Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet A 2009;149A: 1980-2002.  Back to cited text no. 4
Gorlin RJ, Pindborg JJ, Cohen MM. Syndromes of the Head and Neck. 20th ed. New York: McGraw-Hill; 1976. p. 379-85.  Back to cited text no. 5
Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefes Arch Clin Exp Ophthalmol 2004;242:495-500.  Back to cited text no. 6
Rabinowitz YS. Keratoconus. Surv Ophthalmol 1998;42:297-319.  Back to cited text no. 7
Simon GJ, Grinbaum A. Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus. Ophthalmic Surg Lasers Imaging 2004;35:495-8.  Back to cited text no. 8
Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G, et al. A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus. Minerva Pediatr 2012;64:59-64.  Back to cited text no. 9
Penumetcha M. Hypohidrotic ectodermal dysplasia and keratoconus: A rare association. IOSR J Dent Med Sci 2018;17:15-8.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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