Diogo R, et al.

, J Neonatol Clin Pediatr 2024, 11: 119

DOI: 10.24966/NCP-878X/100119

HSOA Journal of
Neonatology and Clinical Pediatrics
Case Report

to skin laxity is skin folds, which are more prominent around the eyes,
Congenital Cutis Laxa face, neck, armpits, and thighs, giving an aged appearance [3]. The
generalized paucity of elastic fibers is responsible for the systemic in-
Presenting With Hiatal Hernia volvement of this disease, including gastrointestinal, cardiovascular,
and pulmonary manifestations.
in the Third Trimester of CCL can have an autosomal dominant, autosomal recessive, or
Pregnancy X-linked inheritance [4]. Autosomal dominant cutis laxa (OMIM
#123700) may present with predominant skin findings throughout the
lifespan, but emphysema and aortic aneurysms have been described
Rui Diogo*, Bárbara Leal, Alexandra Dinis and Teresa Dionísio
[5]. Autosomal recessive cutis laxa (ARCL) is a systemic disease with
Pediatric Intensive Care Service, Coimbra Hospital and University Centre, three main subtypes, each with multiple forms [1,4,5]. ARCL type
Coimbra, Portugal 1 has predominant cardiopulmonary complications. ARCL type 1c
(OMIM #613177) may present with emphysema, peripheral pulmo-
Abstract nary stenosis, visceral diverticula, and hiatal and diaphragmatic her-
nias [6]. Patients with ARCL type 2 and 3 have more frequent skeletal
Inherited cutis laxa disorders result from monogenic defects that
impair elastic fiber assembly and can manifest in newborns with ex-
and central nervous system manifestations [5,7].
cessive skin folds and systemic involvement. There is a significant overlap between CCL types and other dis-
We present a case of a newborn diagnosed with hiatal hernia in orders, such as geroderma osteodysplasticum, MACS syndrome
the third trimester of pregnancy. At birth, generalized wrinkled skin (Macrocephaly, Alopecia, Cutis Laxa, Scoliosis), arterial tortuosity
was noticed, more prominent in the eyes, face, and limbs, compat- syndrome and Ehlers-Danlos syndromes [1,4,5].
ible with a congenital cutis laxa. An intermittent hiatal hernia with a
dynamic compression of the left atrium by the herniated stomach Congenital hiatal hernias are rare in pediatrics, with few series
prompted an exploratory laparotomy, which identified a hiatal hernia reported in the literature [8]. Some types of CCL are associated with
with an intra-thoracic gastric fundus and pyloric stenosis. Reduction congenital hiatal hernias [6]. This report describes a newborn with
of the herniated stomach, correction of diaphragmatic hiatus, an- congenital cutis laxa and a prenatal diagnosis of a hiatal hernia.
ti-reflux procedure, and pyloromyotomy were performed, with a good
outcome. Skin biopsy revealed elastic fiber heterogeneity in the re- Case Presentation
ticular dermis, but whole exome sequencing was inconclusive. The
patient is currently three months old and is thriving well. Peripheral Male newborn, born to a G4P4 mother in her 40s, without pre-
pulmonary stenosis is being closely monitored. vious history of miscarriages, familial malformation syndromes or
parental consanguinity. Pregnancy was uncomplicated. However, an
Introduction ultrasound at 32 weeks gestation revealed an anechogenic formation
posterior to the fetus’ heart, suggestive of an intrathoracic stomach,
Cutis laxa (CL) disorders are a group of rare heterogeneous con- without pulmonary hypoplasia. Magnetic resonance imaging at 35
nective tissue diseases, inherited or acquired, characterized by a re- demonstrated the same structure, contiguous to the esophagus, with a
duced number or size of elastic fibers, resulting in loose and redun- tubular morphology and liquid content compatible with a hiatal hernia
dant skin folds and less skin elasticity [1]. The diagnosis of CL is (figure 1). Additionally, a fetal echocardiogram at 35 weeks showed
primarily clinical [2]. an aortic isthmus narrowing (3mm in the sagittal plane, z-score -2.4).
The neonate was born at 39 weeks via spontaneous noncomplicated
Congenital cutis laxa (CCL) is a systemic disorder with diverse
vaginal delivery. Because of the known gastric hernia, nasotrache-
clinical presentations and inheritance patterns. A common trait related
al intubation was tried immediately after birth. However, the baby
*Corresponding author: Rui Diogo, Pediatric Intensive Care Service, Coimbra showed no respiratory compromise, with spontaneous breathing and
Hospital and University Centre, Coimbra, Portugal. Email address: ruialdiogo@ normal oxygenation, so further attempts were not performed. He was
gmail.com
in good condition at birth with Apgar scores of 9 at one minute and 10
Citation: Diogo R, Leal B, Dinis A, Dionisio T (2024) Congenital Cutis Laxa Pre- at five and ten minutes. On examination, generalized wrinkled and re-
senting With Hiatal Hernia in the Third Trimester of Pregnancy. J Neonatol Clin dundant skin were noted, more prominently involving the face, eyes,
Pediatr 11: 119. and limbs (figure 2), giving an aged appearance. Additional findings
included small palpebral fissures, palmar hyperlinearity, inverted nip-
Received: January 10, 2023; Accepted: January 22, 2024; Published: January
27, 2024
ples, and increased inter-nipple distance.

Copyright: © 2024 Diogo R, et al. This is an open-access article distributed un-

Investigations
der the terms of the Creative Commons Attribution License, which permits unre-
stricted use, distribution, and reproduction in any medium, provided the original Upon admission to the pediatric intensive care unit, thora-
author and source are credited. coabdominal radiography (figure 3) and abdominal ultrasound
Citation: Diogo R, Leal B, Dinis A, Dionisio T (2024) Congenital Cutis Laxa Presenting With Hiatal Hernia in the Third Trimester of Pregnancy. J Neonatol Clin Pediatr
11: 119.

• Page 2 of 4 •

For preoperative evaluation, imaging was repeated on day two of

life. Abdominal ultrasound and upper gastrointestinal series (figure
4) revealed the stomach now in anatomic position, intra-abdominal,
with regular gastric emptying and significant gastro-oesophageal re-
flux. Diaphragmatic ultrasound disclosed a reduced thickness of the
left hemidiaphragm and a reduced diaphragmatic excursion on this
side (figure 5). Given these results, enteral feeding was started on day
three and was initially well tolerated.

Figure 1: Fetal Magnetic Resonance Imaging (MRI) at 35 weeks: A struc-

ture with fluid signal is in a medial location (arrow) posterior to the heart,
with a tubular morphology and contiguity with the esophagus. This struc-
ture measures 35 x 20 x 25 mm and has a thin, regular wall with folds
inside, compatible with a herniated stomach.

Figure 4: Upper gastrointestinal series on day 2 with an intra-abdominal

stomach and significant gastroesophageal reflux (arrow).

Figure 2: Skin laxity with prominent folds of the newborn. A. Skin

stretching. B. Skin takes time to snap back to its original position because
of compromised elasticity.

demonstrated a partially intra-thoracic stomach, suggesting of a hia-

tal hernia with preserved diaphragm continuity. Echocardiogram re-
vealed aortic isthmus narrowing with a maximum systolic gradient
of 12 mmHg. The neonate was under continuous cardiorespiratory
Figure 5: Diaphragmatic ultrasound on day 2 showing left hemi diaphrag-
monitoring, and blood pressure, diuresis, and temperature were eval- matic reduced thickness and excursion (white arrow). Mild left pleural ef-
uated every four hours. He was breathing spontaneously with no signs fusion is also seen (red asterisk). An almost empty intra-abdominal stom-
of respiratory distress and had a nasogastric tube in passive drainage. ach can also be noticed (yellow arrow) in the anatomic position.

However, on day seven, frequent episodes of tachypnoea and de-

saturation after meals and a 20-mmHg systolic differential between
upper and lower limbs were noticed, with poor perfusion. Echocar-
diogram demonstrated a dynamic left atrium, which was being com-
pressed by the stomach (figures 6 and 7), with repeat diaphragmatic
and abdominal ultrasound (figure 8) and thoracoabdominal contrast
radiography (figure 9) showing recurrence of the hiatal hernia,
prompting cessation of enteral feeds.

Neurological and ophthalmologic examinations and cranial ultra-

sound were normal.

The dermatologist performed a skin biopsy on day five, which

Figure 3: Thoracic and abdominal radiography on day 1 showing herniat- demonstrated a significant rarefaction of elastic fibers in the papillary
ed intrathoracic stomach (arrow).
dermis, highlighted by the Verhoeff stain. The fibers were regularly

J Neonatol Clin Pediatr ISSN: 2378-878X, Open Access Journal Volume 11 • Issue 1 • 100119`
DOI: 10.24966/NCP-878X/100119
Citation: Diogo R, Leal B, Dinis A, Dionisio T (2024) Congenital Cutis Laxa Presenting With Hiatal Hernia in the Third Trimester of Pregnancy. J Neonatol Clin Pediatr
11: 119.

• Page 3 of 4 •

Figure 6: Echocardiogram on day 7, after a meal, showing left atria com-

pression by the stomach (arrow).

Figure 9: Abdominal ultrasound showing large hiatal hernia (arrow).

Diferential Diagnosis
At birth, widespread redundant skin led to the suspicion of an in-
herited cutis laxa disorder. The generalized connective tissue laxity,
namely in the peri‐esophageal connective tissue, could also explain
the gastric hernia diagnosed in the third trimester of pregnancy. Con-
sidering the three inheritance patterns of congenital cutis laxa dis-
orders and the absence of family history, a recessive variant or a de
novo mutation could explain the phenotype. Skin involvement is pre-
dominant in autosomal dominant cutis laxa, and X-linked cutis laxa
manifests with urogenital tract diverticula and skeletal exostoses [1],
which are absent in our patient. The neonate’s clinical manifestations
are most compatible with an ARCL, and, considering its three sub-
types, ACRL type 1 is the one that better suits the hiatal hernia pheno-
Figure 7: Echocardiogram also on day 7, but now on food break, showing type [6].
resolution of the left atria compression.
We considered other causes for skin laxity in this patient. Gero-
derma osteodysplasticum can present with generalized wrinkly skin.
However, the patient lacked other features, such as joint laxity and
typical craniofacial characteristics like a broad forehead, hyper-
telorism, flat midface, sagging cheeks, and anteverted ears [5]. We
also considered Ehlers-Danlos syndrome. However, the patient did
not have hyperelastic skin (which snaps rapidly back after stretching),
joint hypermobility, or generalized tissue fragility, which are charac-
teristics of this condition [4].

Treatment
On day 11 of life, the patient underwent an exploratory laparot-
omy, which showed a paraesophageal hernia with an intra-thoracic
gastric fundus, a loose diaphragm at oesophageal hiatus, and a hy-
pertrophied pylorus. The surgeons reduced the herniated stomach
into the peritoneal cavity, corrected the diaphragmatic hiatus using
non-absorbable sutures, and performed a Boix-Ochoa anti-reflux pro-
Figure 8: Abdominal ultrasound showing large hiatal hernia (arrow). cedure and a Fredet-Ramstedt pyloromyotomy.
Enteral feeding by nasogastric tube was started on day two
distributed in the reticular dermis but had variable diameters, a convo- post-surgery and progressed steadily to exclusive breastfeeding. The
luted aspect, and poorly defined limits. These morphological changes echocardiogram showed resolution of the aortic isthmus narrowing
were pathological and compatible with the clinical diagnosis of cutis and left atrium compression. However, a peripheral pulmonary ste-
laxa.
nosis with a peak systolic gradient of 30 mmHg to the right branch
A CentoXome® whole exome sequencing with copy number (mild stenosis) and 40 mmHg to the left branch (moderate stenosis)
variant analysis and mitochondrial DNA analysis was performed, and was noticed. The baby was discharged home on day 22 (eleven-day
no clinically relevant variants related to the described phenotype were post-surgery) when full sucking feeds and a good weight gain were
detected. secured.
J Neonatol Clin Pediatr ISSN: 2378-878X, Open Access Journal Volume 11 • Issue 1 • 100119`
DOI: 10.24966/NCP-878X/100119
Citation: Diogo R, Leal B, Dinis A, Dionisio T (2024) Congenital Cutis Laxa Presenting With Hiatal Hernia in the Third Trimester of Pregnancy. J Neonatol Clin Pediatr
11: 119.

• Page 4 of 4 •

Outcome Conclusion
At two months of age, cardiac catheterization to assess the degree Congenital cutis laxa is a systemic disorder that can have prenatal
of pulmonary arteries stenosis was attempted, however, femoral ve- manifestations and hiatal hernias can result from the abnormality of
nous access was complicated by skin and vessel laxity. As the infant elastic fibres characteristic of this condition. The intermittent hiatal
is growing and developing appropriately, the procedure was deferred
hernia with dynamic compression of the left atrium presented a di-
at this time. He is now three months old and continues to be followed
agnostic challenge in this case. Cardiovascular involvement is com-
by a multidisciplinary team, including pediatric gastric surgeons and
cardiologists. mon, so echocardiographic follow-up is recommended in congenital
cutis laxa syndromes.
Discussion
Consent
CCL is caused by defects in elastin synthesis or assembly of extra-
cellular matrix components and is recognized clinically by excessive Written informed consent was obtained from the patient’s mother
skin folds [5]. While skin biopsy is not mandatory [2], in most cases, for publication of this case report.
it is still performed, particularly in the case of inherited CL. In this
case, the diagnosis was made immediately after birth, and the skin Disclosure
biopsy showed morphologic changes in the elastic fibers of the re-
This clinical case was written based on clinical observation with-
ticular dermis, compatible with the diagnosis. The hiatal hernia and
out any funding.
peripheral pulmonary stenosis also resulted from this abnormality of
elastic fibers. References
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