|Year : 2020 | Volume
| Issue : 4 | Page : 307-309
Hay-wells syndrome with selective immunoglobulin a deficiency
Bhupathi Sharanya, Rajendran Narayanan, Manobalan Karunanandhan
Department of DVL, Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth (Declared to be Deemed), Pondicherry, India
|Date of Submission||20-Feb-2020|
|Date of Decision||16-Mar-2020|
|Date of Acceptance||14-Apr-2020|
|Date of Web Publication||30-Sep-2020|
Dr. Manobalan Karunanandhan
Department of DVL, Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth (Declared to be Deemed), Pondicherry - 607 402
Source of Support: None, Conflict of Interest: None
Hay-Wells syndrome or ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a rare form of ectodermal dysplasia. It is an autosomal dominant disorder with various congenital abnormalities involving the skin, hair, teeth, nails, and sweat glands. We report a case of a 7-year-old boy who presented with scaly lesions all over the body that was noticed since birth. The child had scalp erosions and fusion of the eyelids at birth. The child even had patchy scaring alopecia with scaling over the vertex, decreased sweating, and poor formation of nails since birth. We also noted frontal bossing in the child. Epiphora and sparse eye lashes were noted in both eyes. Ear-nose-throat examination revealed rudimentary bifid uvula, aural polyp in the right ear, and abnormal dentition. In view of these clinical signs and symptoms, we arrived at a clinical diagnosis of ankyloblepharon-ectodermal dysplasia-cleft palate (AEC). Due to recurrent scalp pyodermas and seborrheic dermatitis in infancy, the child was suspected and confirmed to have selective immunoglobulin A (IgA) deficiency. We report this case in view of its rare association, i.e., AEC, with selective IgA deficiency.
Keywords: AEC, ectodermal dysplasia, Hay-Wells, IgA deficiency
|How to cite this article:|
Sharanya B, Narayanan R, Karunanandhan M. Hay-wells syndrome with selective immunoglobulin a deficiency. Indian J Paediatr Dermatol 2020;21:307-9
|How to cite this URL:|
Sharanya B, Narayanan R, Karunanandhan M. Hay-wells syndrome with selective immunoglobulin a deficiency. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Oct 22];21:307-9. Available from: https://www.ijpd.in/text.asp?2020/21/4/307/296855
| Introduction|| |
Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, is a rare form of ectodermal dysplasia, which has an autosomal dominant inheritance. It occurs due to missense mutation in TP63 (tumor protein), which affects sterile alpha motif domain of the p63 gene. This gene is an homologous of p53 oncosuppressor gene that regulates keratinocyte proliferation. Around 50 cases have been reported till 2015. This condition shows various congenital abnormalities involving the skin, hair, teeth, nails, and sweat glands. As this is a rare syndrome, accurate diagnosis has to be made to minimize the complications associated with this syndrome.
| Case Report|| |
A 7-year-old boy, born of second-degree consanguineous marriage, presented to the dermatology outpatient department with scaly lesions all over the body, decreased sweating, and poor formation of nails since birth. Parents gave a history of noticing scalp erosions at birth, fusion of eyelids, otherwise known as ankyloblepharon, which was corrected surgically in the neonatal period, and history of the right ear discharge for 1 month. There was no history of failure to thrive, recurrent fever, or limb anomalies. Anthropometry of the child revealed moderate underweight of 16 kg, height for age was 116 cm which was normal, whereas body mass index showed severe thinness of 12. There was characteristic facies with frontal bossing, midfacial hypoplasia, and narrow nose; lower lip was more prominent than the upper lip; and short vermilion border of the upper lip with oral cavity examination showed rudimentary bifid uvula and abnormal dentition [Figure 1]. There was reticulate hyperpigmentation of the skin with sparseness of body hair, and scalp showed an 8 cm × 8 cm patchy scarring alopecia with scaling [Figure 2]. There was also sparse eye lashes; epiphora in both eyes and nail changes such as dystrophy were noted [Figure 3]; and aural polyp was noted in the right ear.
|Figure 1: Oral cavity showing rudimentary bifid uvula (arrow) and abnormal dentition including hypodontia|
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|Figure 2: Skin showing reticulated hyperpigmentation over trunk region and scalp showing an 8 cm × 8 cm patchy scarring alopecia noted over the vertex region|
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|Figure 3: Epiphora in both eyes with sparse eye lashes were noted and finger nails showing nail dystrophy|
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Based on these findings, a clinical diagnosis of ectodermal dysplasia, in which ankyloblepharon-ectodermal dysplasia-cleft palate (AEC) was made. In view of recurrent pyodermas and refractory seborrheic dermatitis in infancy, the child was investigated to rule out primary immunodeficiency and immunoglobulin (Ig) profile was sent. Ig profile showed reduced serum IgA level (14 mg/dl) and confirmed to have selective IgA deficiency.
| Discussion|| |
Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects in two or more ectodermal structures, such as hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia), or sweat glands (dyshidrosis). This condition occurs approximately in 1 per 100,000 live births.
Based on the sweat gland function, it manifests as hypohidrotic type (Christ–Siemens–Touraine syndrome) and hidrotic type (Clouston's syndrome). When associated with other features, there are two types, which are ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.,
AEC is also known as Hay-Wells syndrome. In 1976, Hay and Wells first described this syndrome and hence the name. It follows an autosomal dominant mode of transmission. In about 70% of cases, it is caused by a de novo mutation in TP63 gene.
The components of this syndrome are ankyloblepharon, ectodermal dysplasia, and cleft lip/palate. Many infants with AEC syndrome are born with ankyloblepharon filiforme adnatum, in which strands of the tissue partially or completely fuse the upper and lower eyelids. This syndrome has to be differentiated from other ectodermal dysplasia as they have many common features.
Dermatological features of all ectodermal dysplasias are defect in ectodermal structures, such as sparse and wiry hair, nail changes such as dystrophy, and decreased sweat production. In addition to these findings, ankyloblepharon, scalp infections, and cleft palate are characteristically seen in AEC.,, Hence, these findings give diagnostic clue for this condition., All these mentioned features were present in our patient, but there was no cleft lip/palate, but bifid uvula was present, and he also had nasal speech indicative of velopharyngeal incompetence. The “curly hair-ankyloblepharon-nail disease syndrome” is a clinical variant of AEC syndrome in which the presence of cleft palate/lip is not always obligatory. Other features include pigmentary anomalies, poor dentition with hypodontia, deformities in the ear, midfacial hypoplasia, hypospadias, and short stature. Atresia of the lacrimal duct can lead to epiphora. At birth, the child may have erosive dermatitis on the scalp, with scarring that can persist till adulthood. Often scalp dermatitis is considered characteristic feature than ankyloblepharon.
It can be distinguished from EEC syndrome in which it shows limb anomalies in addition to ectodermal defects. Other differentials are limb-mammary syndrome and acro-dermato-ungual-lacrimal tooth syndrome syndrome.
As a genetic disease, treatment is symptom-oriented. Antibiotic ointments can be used for skin lesions and genetic counseling is recommended.
Primary immunodeficiency (i.e. selective IgA deficiency) seen as one of the clinical manifestations of AEC syndrome is very rare. Ectodermal dysplasia associated with primary immunodeficiency is commonly seen with defects in NF-κβ pathway signals. Presence of selective IgA deficiency as seen in our case of AEC can be considered as a coexistence of two separate conditions or can be a variant of AEC with primary immunodeficiency. Similar to our case report, IgA deficiency was also observed in a study by Sousa et al.
| Conclusion|| |
- Hay-Wells syndrome and selective IgA deficiency are the two different entities whose association in the same patient has not been reported before
- Further, our case would probably represent a variant of Hay-Wells syndrome in view of absent cleft lip/ palate and also due to the presence of selective IgA deficiency. Consideration of the coexistence of primary immunodeficiency in AEC syndromes may aid a prompt diagnosis and this may help to manage the patients adequately
- We report this case for its rarity.
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.
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[Figure 1], [Figure 2], [Figure 3]