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Jornal de Pediatria - Vol. 77, Nº1 , 2001 55
0021-7557/01/77-01/55
Jornal de Pediatria
Copyright
© 2001 by Sociedade Brasileira de Pediatria
CASE REPORT
Anhidrotic ectodermal dysplasia syndrome
in the neonatal period - case report
Breno F. de Araújo,1 Adelar B. Nora,2 Márcia Z. Marcon,2 Daniel B. de Medeiros,3
Eduardo S. de Araújo,3 Fernanda Z. Fachinello3
Abstract
Objective: to describe a rare syndrome affecting children, and to urge pediatricians to consider this
diagnosis when investigating idiopathic fever in neonates.
Methods: we report a case of anhidrotic ectodermal dysplasia syndrome in a 10 day old newborn in
the neonatal intensive care unit at Hospital Geral de Caxias do Sul. The child presented recurrent episodes
of fever since the first days of life.
Results: the patient presented dry mucus, dry skin, and fever. Skin biopsy was performed in the child’s
back. Absence of sweat and sebaceous glands as well as hypoplasia of follicular structures were identified.
The patient is receiving adequate treatment, and is being followed as an outpatient.
Conclusion: anhidrotic ectodermal dysplasia syndrome is a rare disorder that must be considered when
investigating newborns with recurrent episodes of fever. During the neonatal period, the clinical
manifestations of the disease are subtle and unspecific. Such findings become more visible after a few
months of life. There is no definitive treatment for this syndrome.
J Pediatr (Rio J) 2001; 77(1): 55-58: hypohidrotic ectodermal dysplasia syndrome.
Introduction
Ectodermal dysplasias are a heterogeneous group of
hereditary diseases characterized by the presence of abnormalities in tissues and organs of ectodermal origin including skin, hair, nails, teeth, and eccrine glands.1,2 The
hypohidrotic and anhidrotic forms are classical examples of
this type of dysplasia.1
The first cases of ectodermal dysplasia involving skin,
hair, and teeth were described in 1848 by Thurman.3-5
Moreover, Weech was the first to employ the term anhidrotic ectodermal dysplasia for patients with absence of
sweat glands.4
Anhidrotic or hypohidrotic ectodermal dysplasia, or
Christ-Siemens-Touraine syndrome, is a recessive, X-linked
disease; it is also rare and nonprogressive and presents a
triad of partial or total absence of sweat glands, hypotrichosis, and hypodontia.3 In addition, there are other signs and
symptoms that can be found depending on the involvement
of the ectodermal tissue.4 Most cases of total Christ-Siemens-Touraine syndrome involve male patients (more
than 90%); female patients usually present the asymptomatic form of the disease.5
1. Professor of Pediatrics, Universidade de Caxias do Sul (UCS), RS.
2. Associate Professor of Dermatology, UCS.
3. Undergraduate student, UCS.
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56 Jornal de Pediatria - Vol. 77, Nº1, 2001
Anhidrotic ectodermal dysplasia syndrome... - Araújo BF et alii
It is our objective to report a case of anhidrotic ectodermal dysplasia and to underscore the importance of considering this pathology in differential diagnosis of fever of
unknown origin in infants.
Case report
A male newborn with 10 days of life from the city of
Caxias do Sul, state of Rio Grande do Sul, southern Brazil,
was admitted to the Neonatal ICU of the Teaching Hospital
at the Universidade de Caxias do Sul (UCS) on August 20th,
1998. Patient presented with history of episodes of persistent hyperthermia since the first days of life. At physical
examination, ES presented with dry mucous membranes,
dry and desquamative skin, hyperthermia (39ºC), and umbilical granuloma.
In order to investigate the origin of the fever we carried
out chest X-ray, hemogram, hemoculture, urinalysis, urine
culture, and liquor examination. The exams presented no
alterations. Next, an umbilical stump culture was collected
for suspected diagnosis of omphalitis, which also presented
negative. We started empiric therapy with oxacillin and
gentamicin despite patient presenting normal for the examinations carried out.
On August 25th, 1998 patient peak temperatures persisted and the above examinations were carried out for a
second time; once more, results were negative. We replaced
oxacillin and gentamicin with vancomicin, amicacin, and
cefotaxime.
On the 14th day of hospital stay the patient still did not
present any improvement of clinical status. Consequently,
we carried out exams to rule out HIV and congenital
neonatal infection (STORCH). Again, patient presented
negative for both exams. He also presented normal for
ultrasonography examination of the abdomen.
Figure 1 - Anatomopathologic characteristics of absence of
eccrine and sebaceous glands
Patient was submitted to an X-ray of the teeth that
indicated total anodontia of deciduous teeth (maxillary and
mandibular). The maxilla presented all permanent teeth
germs, according to age; the lateral incisors, however,
presented conoid characteristic and were in an advanced
stage of development in relation to central incisors. In
relation to the mandible, we only found tooth germs of the
first molar teeth (partial anodontia).
Currently, the patient is being followed-up at the outpatient Dermatology and Pediatric clinic of the Teaching
Hospital at UCS.
Only on September 9th of that same year we suspected
that the patient had anhidrotic ectodermal dysplasia. Biopsy of a specimen taken from the dorsum of the patient and
histopathological report confirmed the diagnosis. Specimen submitted to anatomopathological exam indicated
absence of eccrine and sebaceous gland structures and
hypoplasia of follicular structures (Figure 1).
Patient was discharged from the hospital on September
12th, 1998. The mother was instructed regarding procedures for control of temperature and use of emollient for dry
skin.
One year later, the clinical signs of anhidrotic ectodermal dysplasia were more evident. At physical examination,
patient presented typical facies with frontal boss, small
nose, lip protrusion, erythematous malar region rash, and
rhinorrhea. Patient also presented hypotrichosis; thin and
sparse hair; depigmentation of the hair; and sparse eyebrow
hair. The skin was dry, pale, thin, and with protruding
vessels (figures 2 and 3).
Figure 2 - Typical facies of the patient with
anhidrotic ectodermal dysplasia
Anhidrotic ectodermal dysplasia syndrome... - Araújo BF et alii
Figure 3 - Frontal view of the patient
Discussion
Anhidrotic ectodermal dysplasia is a disease with genetic heterogeneity. Many types of inheritance have been
described, including those of dominant and recessive autosomal forms of the disease4-6 and of X-linked inheritance.7-8 In general, the mechanism of recessive inheritance
is linked to the X chromosome; as a result, male patients are
more seriously affected by the disease, presenting significant morbidity and mortality. Heterozygote women can be
affected differently,8,10 ranging from being asymptomatic
carriers to presenting clinical manifestation identical, or
similar to, that of men.6
The characteristic clinical manifestations of anhidrotic
ectodermal dysplasia are absent or reduced sweat, hypotrichosis, total or partial anodontia, 3 and typical facies.
In anhidrotic ectodermal dysplasia, the hypotrichosis is
generalized and the alopecia is not complete. The hair
presents thin, sparse, dry, and with depigmentation. In
addition to the scalp, other areas of the body can also be
affected, such as the axillae, pubic region, face, and thorax.
The eyebrow can be completely absent or sparse; the
eyelashes, in turn, remain normal.3 Anhidrotic ectodermal
dysplasia patients tend to have pale, dry, and translucent
skin with thin wrinkle formation and characteristics of early
aging.
Dental abnormalities include anodontia or hypodontia
and odontodystrophy (disorder of the format and size of
Jornal de Pediatria - Vol. 77, Nº1 , 2001 57
teeth). Usually, the incisor and/or canine teeth are small,
conoid, and pointed.3-5 Moreover, onychodystrophy occurs in half of the cases of anhidrotic ectodermal dysplasia.
A classification for congenital ectodermal dysplasia
was suggested by Freire-Maia and colleagues of the Center
of Studies on Ectodermal Dysplasia from the Department of
Genetics at Universidade Federal do Paraná. The classification is based on the phenotype of each group of the
disease. The hair, tooth, nail, and sweat gland structures are
designated as 1, 2, 3, and 4, respectively. According to the
abnormalities found in each structures, it is possible to
establish subgroups: 1-2; 1-3; 1-4; 2-3; 2-4; 3-4; 1-2-3;
1-2-4; 1-3-4; 2-3-4; 1-2-3-4.11
The deficiency or absence of mucosal glands, especially
in the upper respiratory tract, oral cavity, and nasopharynx
usually develops to rhinitis, pharyngitis, laryngitis, bronchitis, and otitis media. Rhinorrhea occurs conversely to
absence of mucus.
Less frequently, it is also possible to find cases of
palmar-plantar hyperkeratosis; cleft palate; susceptibility
to atopic dermatitis; abnormalities of the eye; abnormalities
of the skeleton and gonad; absence or hypoplasia of mammary glands; and mental retardation.1,2,5
Children with anhidrotic ectodermal dysplasia present
persistent hyperthermia that manifests itself especially following the practice of physical exercise, the appearance of
infections, or the use of inappropriately warm clothing.
This occurs due to absence of eccrine glands, which, in turn,
results in anhidrosis.
Early diagnose of the disease is rare since its clinical
alterations are not manifest at the moment of birth. The final
diagnosis is obtained with histopathological exam of the
skin. Currently, it is also possible to carry out prenatal
diagnosis with studies of DNA.3,7
One of the main obstacles that doctors have to face in
relation to this pathology is the lack of a specific treatment.
Therapeutic measures focus basically on the control of the
temperature of the patient, use of air-conditioning, use of
light-clothing, cold showers, practice of exercise in cold
environments, and limitation of physical activities. The use
of emollient for dry skin is also recommended.1,3 The only
treatment available is the dental treatment with use of
protheses, which can help improve patient nutrition and
physical appearance.1,5 Moreover, plastic surgery can be
carried out in adolescent and adult patients in order to
correct deformities.
Despite the fact that the congenital anhidrotic ectodermal dysplasia is a rare disease and with late typical clinical
alterations, we conclude that it is necessary to include it in
the differential diagnosis of newborns with persistent fever
of unknown origin. In this sense, it would be possible to
establish early diagnosis of the disease and adequate treatment, thus avoiding unnecessary empirical use of antibiotics and other pharmaceuticals in cases of persistent fever of
unknown origin in newborn patients.
58 Jornal de Pediatria - Vol. 77, Nº1, 2001
References
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Correspondence:
Dr. Breno Fauth de Araújo
Rua Orestes Baldisserotto, 931 - Colina Sorriso
CEP 95032-260 – Caxias do Sul, RS - Brazil
Phone: +55 54 221.4691
E-mail: [email protected]