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A neonate with denuded skin: Hay–Wells syndrome

Authors:
Abhay K Lodha at Cumming School of Medicine University of Calgary
Abhay K Lodha
  • Cumming School of Medicine University of Calgary
Eugene Ng
Eugene Ng
Eugene Ng
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CMAJ • JULY 20, 2004; 171 (2) 131
© 2004 Canadian Medical Association or its licensors
Afull-term newborn was
born with large areas of de-
nuded skin. Her entire scalp was
involved, as were her buttocks
and the extensor aspects of her
arms. Smaller areas of involve-
ment included her abdomen,
chest, axilla, groin and legs. Her
denuded skin was intensely ery-
thematous and resembled a
second-degree burn. Examina-
tion of her scalp revealed alope-
cia with crusting, erythema and
scaling (Fig. 1). Her fingernails
and toenails were abnormally
formed (Fig. 2). Both eyelids
were partially fused (ankylo-
blepharon) with inward turning
of the lid margin (entropion),
and eyelashes were absent (Fig.
3). A mucous cleft palate was
found. The infant’s parents were
nonconsanguineous, with a
healthy 3-year-old child from a
previous pregnancy.
The infant remained clini-
cally stable and was immediately
placed in an isolette with high
humidity. Fluid and broad-
spectrum antibiotics were ad-
ministered intravenously and the
large denuded areas covered
with Vaseline-impregnated
gauze dressings. She was trans-
ferred to a tertiary pediatric cen-
tre, where, on the basis of clini-
cal findings of ankyloblepharon,
skin and nail defects, and cleft
palate, Hay–Wells syndrome
(HWS) was diagnosed. Over the
next 4 weeks, the infant experi-
enced multiple episodes of sec-
ondary bacterial sepsis, which
required intravenous antibiotic
therapy and oral analgesic ther-
apy. Her eyelid fusions were re-
paired by simple dissection, and
plans were made to repair her
mucous cleft palate. Her de-
nuded skin improved sponta-
neously over several weeks, and
she was discharged home at 2
months of age. Only 1 signifi-
cant skin lesion, in her scalp, re-
mained, which required multiple
treatments for recurrent celluli-
tis over the next 4 months.
HWS was first described in 1976
as an autosomal dominant con-
dition characterized by ankylo-
blepharon filiforme adnatum,
ectodermal dysplasia and cleft
palate with or without associated
cleft lip.1Ectodermal defects in-
clude hair loss, absent or dys-
trophic nails, pointed and widely
spaced teeth and inadequate per-
spiration (partial anhidrosis).
Other associated anomalies in-
clude lacrimal duct atresia, su-
pernumerary nipples, syndactyly
and auricular deformities.1–3
One study has suggested that
HWS is caused by heterozygous
missense mutations in the p63
gene.3HWS shares some clini-
cal features with ectrodactyly–
ectodermal dysplasia–clefting
(EEC) syndrome and with
Rapp–Hodgkin syndrome. EEC
syndrome is distinguished from
HWS by congenital absence of
part of the fingers or toes (ec-
trodactyly), and Rapp–Hodgkin
syndrome is distinguished by
mid-facial hypoplasia.2Differen-
tiation between HWS and
Rapp–Hodgkin syndrome is of-
ten difficult, which has led some
to suggest that they may repre-
sent phenotypic variations of the
same entity.4,5
Recurrent scalp dermatitis
with secondary infection is a
common feature of HWS. Man-
agement is usually difficult, often
requiring aggressive wound care,
including surgical débridement
and early topical and systemic
administration of antibiotics.2
Feeding difficulty can be seen
during infancy owing to poor
oral–motor functions, and a gas-
trostomy tube may be required
to optimize nutritional intake.
Abhay Lodha
Clinical fellow
Eugene Ng
Staff neonatologist
Shared Program in Neonatal–
Perinatal Medicine
University of Toronto
Toronto, Ont.
References
1. Hay RJ, Wells RS. The syndrome of
ankyloblepharon ectodermal defects
and cleft lip and palate: an autosomal
dominant condition. Br J Dermatol
1976;94:227-89.
2. Fosko SW, Stenn KS, Bolognia JL. Ec-
todermal dysplasia associated with cleft-
ing: significance of scalp dermatitis. J
Am Acad Dermatol 1992;27(20):249-56.
3. McGrath JA, Duijf PH, Doetsch V,
Irvine AD, de Waal R, Vanmolkot
KR, et al. Hay–Wells syndrome is
caused by heterozygous missense mu-
tations in the SAM domain of p63.
Hum Mol Genet 2001;10(3):221-9.
4. Rowan DM. Scalp dermatitis, ectoder-
mal dysplasia and cleft lip and palate:
Rapp–Hodgkin or AEC syndrome.
Australas J Dermatol 1996;37:102-3.
5. Cambiaghi S, Tadini G, Barbaresehi
M, Menni S, Caputo R. Rapp–Hodgkin
syndrome and AEC syndrome: are they
the same entity? Br J Dermatol 1994;
130:97-101.
A neonate with denuded skin: Hay–Wells syndrome
CLINICAL VISTAS PRACTICE
DOI:10.1503/cmaj.1031610
... Bertola et al., 2000;McGrath et al., 2001;Drut et al., 2002;Tsutsui et al., 2003;Lodha and Ng, 2004;Sahin et al., 2004;Payne et al., 2005;Propst et al., 2005;Steele et al., 2005;Kulkarni et al., 2006). Ankyloblepharon in affected patients usually is limited to small bands of vascularized connective tissue spanning the eyelids (ankyloblepharon filiforme adnatum), and such is the classical feature that distinguishes AEC syndrome from two other disorders that also present with ectodermal dysplasia and cleft palate and/or cleft lip. ...
Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome
Article
Full-text available
  • Jun 2007
Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.
View
Ankyloblepharon–Ectodermal Defects–Cleft Lip/Palate Syndrome
Article
  • Feb 2017
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is an autosomal genetic disease with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and cleft lip/palate. The authors report a patient with 17 months old girl with AEC syndrome having ankyloblepharon, cleft and palate, and ectrodactyly with some associated features. Etiology, clinical features, differential diagnosis, and treatment have been elaborated in this clinical report.
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Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome
Article
  • Jul 2012
  • EUR J DERMATOL
The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.
View
Low-frequency, therapeutic ultrasound treatment for congenital ectodermal dysplasia in toddlers
Article
  • Nov 2008
Hay-Wells Syndrome is a rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft palate. Recalcitrant scalp wounds with secondary infections are common. This case series describes the use of acoustic pressure wound therapy in 3-year-old fraternal twins (male and female) with HWS-associated scalp wounds. Present since infancy, the wounds were severe and extensive at presentation to the authors' wound clinic. Previous management consisted of standard topical treatments, including foam; oxidized, regenerated-cellulose/collagen with silver; calcium alginate; silver sulfadiazine cream; and biologic tissue matrix. Following admission to the authors' wound clinic, acoustic pressure wound therapy was administered one to three times weekly for 3 to 10 minutes for 7 months in addition to standard topical treatments to provide nonsurgical debridement and reduce wound bioburden without inflicting additional pain. Substantial improvements occurred during the first 5 weeks of consistent treatment. When treatments became sporadic due to health and family issues, wound deterioration occurred. After 7 months, wound sizes decreased by 31.3% in the boy and 1.1% in the girl, 70% of the wound surface in both children was covered with granulation tissue, and no clinical signs of infection were evident. The treatments were well tolerated. So far, the twins each received a total of 37 treatments. Consistent, long-term acoustic pressure wound therapy improved the status of severe, recalcitrant, Hay-Wells Syndrome-associated scalp wounds.
View
Hay–Wells syndrome (AEC): a case report
Article
  • Oct 2006
We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study design. The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme, low positioning of the auricles and faulty development of the left auricle, scaly exanthema with eritrodermatitis and hyperkeratosis, good lung ventilation, normal heart rhythm and normal neurological examination. Although only a few cases published are available, clinical variability is one of the hallmarks of AEC syndrome. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported.
View
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
Article
Full-text available
  • Mar 2001
Hay–Wells syndrome, also known as ankyloblepharon–ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC; OMIM 604292), limb–mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate–ectodermal dysplasia (CLPED1; OMIM 225060). We have recently demonstrated that heterozygous mutations in the p63 gene are the major cause of EEC syndrome. Linkage studies suggest that the related LMS and ADULT syndromes are also caused by mutations in the p63 gene. Thus, it appears that p63 gene mutations have highly pleiotropic effects. We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. All mutations give rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and are predicted to affect protein – protein interactions. In contrast, the vast majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. Thus, a clear genotype–phenotype correlation can be recognized for EEC and AEC syndromes.
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Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp–Hodgkin or AEC syndrome
Article
  • May 1996
  • AUSTRALAS J DERMATOL
SUMMARYA female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. She had features of both Rapp–Hodgkin syndrome and AEC syndrome. It has recently been suggested in the literature that these two syndromes are the same condition and this case report supports this viewpoint.
View
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition
Article
  • Apr 1976
Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
View
Ectodermal dysplasias associated with clefting: Significance of scalp dermatitis
Article
  • Sep 1992
  • J AM ACAD DERMATOL
Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.
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Rapp-Hodgkin syndrome and AEC syndrome: Are they the same entity?
Article
  • Feb 1994
Rapp-Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp-Hodgkin facies is reported. The overlap between Rapp-Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggest that AEC syndrome and Rapp-Hodgkin syndrome represent the same entity.
View
Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp-Hodgkin or AEC syndrome
Article
  • Jun 1996
A female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. She had features of both Rapp-Hodgkin syndrome and AEC syndrome. It has recently been suggested in the literature that these two syndrome are the same condition and this case report supports this viewpoint.
View
Rapp–Hodgkin syndrome and AEC syndrome: are they the same entity? A neonate with denuded skin: Hay–Wells syndrome CLINICAL VISTAS
  • 97-101
  • S Cambiaghi
  • G Tadini
  • M Barbaresehi
  • S Menni
  • P R Ac T I C Caputo
Cambiaghi S, Tadini G, Barbaresehi M, Menni S, Caputo R. Rapp–Hodgkin syndrome and AEC syndrome: are they the same entity? Br J Dermatol 1994; 130:97-101. A neonate with denuded skin: Hay–Wells syndrome CLINICAL VISTAS P R AC T I C E DOI:10.1503/cmaj.1031610