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\begin{document}

\title{Bart Syndrome: A Case Report of Neonatal Disorder}



\author[1]{Mohammad Amin Eghtedari}%
\author[2]{Monireh Sharafi}%
\author[1]{Abes Ahmadijazi}%
\affil[1]{Dezful University of Medical Sciences}%
\affil[2]{Iran University of Medical Sciences}%


\vspace{-1em}



  
  \date{May 26, 2024}


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\textbf{Introduction:}

A medical condition characterized by the congenital absence of skin,
predominantly affecting the lower extremities, blisters on both skin and
mucous membranes, and congenital absence and deformities in nails, has
been identified within a familial context(1). The inheritance pattern
aligns with a fully penetrant, autosomal dominant gene(1).

In 1966, Bart introduced Bart syndrome, a condition marked by the
simultaneous occurrence of congenital epidermolysis bullosa, localized
congenital absence of skin affecting the extremities, and the abnormal
shedding or dystrophy of nails(2). This syndrome is fascinating in the
medical field due to its more optimistic prognosis when contrasted with
other epidermolysis bullosa types(2). This type is known as Aplasia
cutis congenital type VI(3).

In this study, we have presented a case of a neonate with some disorders
that guide us to different diagnoses and syndromes, such as CHIME
syndrome and Barth syndrome, that have contributed.

\textbf{Case presentation:}

In October 2023, a premature baby was born at Ganjavian Hospital of
Dezfull. His arrival was not without complexities, as he brought a
puzzling array of skin symptoms and multi-organ anomalies. This baby was
born after 33 weeks of pregnancy to a 24-year-old Iranian mother
experiencing her first pregnancy. The hospital's gynecological surgery
team performed the cesarean delivery. As the baby took his first
breaths, the attending medical staff noted an initial Apgar score of
8/10, which swiftly improved to a reassuring 9/10 within the first five
minutes(Table 3).

Within the context of the baby's family history, a significant detail
emerged---the parents were closely related by blood, and there were no
known instances of similar anomalies within their respective families.
The decision to opt for a cesarean section was motivated by the presence
of meconium in the baby's amniotic fluid, a precautionary measure taken
to protect his well-being. Regarding physical stature, both parents fell
comfortably within the normal range---standing tall at approximately 180
centimeters with a weight of 80 kilograms for the father and a height of
168 centimeters with a weight of 64 kilograms for the mother.
Furthermore, the mother's blood type was identified as A+.

Upon his arrival, the baby weighed a delicate 1500 gr and measured 42 cm
in length, with a head circumference of 31.5 cm. The temperature at
birth held steady at 36.7C while vital signs were meticulously
recorded---his heart rhythm was 140 beats per minute, and his
respiratory rate was 68 breaths per minute. From the moment of birth
until the time of this composition, spanning approximately four days,
the baby has been under the dedicated care of the Neonatal Intensive
Care Unit (NICU). During this period, he has displayed pronounced
intercostal retractions, the poignant sound of grunting, and the
telltale sign of nasal flaring. A thorough examination at birth also
unveiled an open rectum, and apnea episodes further added to the
complexity of his condition.

Despite these challenges, it is noteworthy that the baby was not
macrosomic, nor did he suffer from intrauterine growth restriction
(IUGR). Hearteningly, there were no indications of deceleration or
irregular heart rate patterns, and premature rupture of membranes (PROM)
did not factor into this medical narrative.

As our gaze approaches the baby's delicate skin, we encounter a mosaic
of anomalies---ecchymosis, skin breakdown, and even the absence of skin
formation in specific areas. These areas encompass the precious head,
expressive face, tender neck, left hand, dainty feet, and even the tiny
genitalia. The baby's left earlobe reveals aplasia and an entire
formation of the right ear is regrettably absent. Additionally, aplasia
extends into the nasal region, further underscoring the intricate nature
of this medical tapestry(figure 1).

During the initial assessment of the baby, we encountered a concerning
array of symptoms related to their eyes. The corneal cloudiness and the
strikingly white appearance of the pupils immediately caught our
attention, pointing to the presence of corneal opacities and an
unusually smooth corneal surface. Recognizing the gravity of this
situation, we promptly requested a consultation with an ophthalmologist
to evaluate the baby's ocular health thoroughly.

The subsequent eye examination confirmed the presence of corneal
cloudiness, but it was intriguingly limited to the central cornea, with
the periphery maintaining a reassuringly normal appearance. This finding
led the medical team to conclude that the corneal opacity fell within an
acceptable range of variation. It is worth noting that the baby
displayed an unusual inability to keep their eyelids open, a phenomenon
often associated with underlying issues. However, notably absent was any
sign of ectropion, the outward turning of the eyelids, which was a
positive indication.

Further investigations considered the presence of clubbing, the
thickening of the fingertips, initially observed during the baby's
examination. After careful consideration and diagnostic assessment, the
possibility of KID syndrome was introduced. In response to this
potential diagnosis, a treatment regimen was established, comprising the
administration of erythromycin eye ointment twice daily to address the
corneal issues and a weekly application of lubricating ointment to
alleviate ocular discomfort.

In dermatological evaluations, our scrutiny extended to the baby's
delicate skin. The findings revealed disseminated vesicles and skin
ecchymoses, forming a pattern indicative of dermatolysis. During this
examination, an alarming discovery was made---a lack of reflex to light,
an observation that raised concerns about possible visual impairment,
particularly in light of the ear anomalies in the baby's medical
profile(figure 4).

The baby presented us with several additional challenges in the broader
context of medical examinations. Notably, we could not detect audible
heart sounds during our assessment, and when they were faintly present,
it raised potential red flags regarding cardiac issues. Additionally,
the baby exhibited bilateral cryptorchidism, a condition characterized
by undescended testes, and we observed early separation of the umbilical
cord, which warranted close monitoring. Encouragingly, the results of
the blood culture and C-reactive protein (CRP) levels fell within the
normal range, offering a glimmer of reassurance amid this complex
medical journey(Table1,2).

Table 1: laboratory findings

Laboratory\selectlanguage{english}
\begin{longtable}[]{@{}llllll@{}}
\toprule
BS: 73 & MCH:37.14 & RBC:4.47 & MCV: 106.4 & Lymph:51.3 &
NRBC:70\tabularnewline
Ca:8.8 & MCHC:35.2 & HB:16.6 & Poly:40 & MPV:9.3 &
Mono:5.5\tabularnewline
WBC:11.6 & RDW:11 & Hct:47.4 & EOS:3 & Plt:319 &\tabularnewline
\bottomrule
\end{longtable}

Table 2: ABG findings

ABG of the umbilical cord\selectlanguage{english}
\begin{longtable}[]{@{}ll@{}}
\toprule
pH: 7.374 & pO2:34.9\tabularnewline
pCO2:45.3 & Hct49\tabularnewline
\textbf{After three h} & \textbf{After three h}\tabularnewline
pH:7.29 & pO2:55.2\tabularnewline
pCO2:37.5 &\tabularnewline
\bottomrule
\end{longtable}

Table 3: APGAR table of patient

APGAR Score\selectlanguage{english}
\begin{longtable}[]{@{}lllllllll@{}}
\toprule
20M & 15M & 10M & 5M & 1Minute & 2 & 1 & 0 &
\textbf{sign}\tabularnewline
2 & 2 & 2 & 1 & 1 & Pink & Acrocyanotic & Pale & color\tabularnewline
2 & 2 & 2 & 2 & 2 & \textgreater{}100bpm & \textless{}100bpm & Absent &
Heart Rate\tabularnewline
2 & 2 & 2 & 2 & 2 & Cry\&active & Grimace & No response & Reflex
irritability\tabularnewline
2 & 2 & 2 & 2 & 1 & Active motion & Some flection & Limp & Muscle
tone\tabularnewline
2 & 2 & 2 & 2 & 2 & Good crying & Weak cry & Absent &
Respiration\tabularnewline
\bottomrule
\end{longtable}

To manage the respiratory distress, skin issues, visual impairments, and
mental challenges presented by the newborn., the decision was made to
admit the baby to the Neonatal Intensive Care Unit (NICU) for
specialized care(figure 2,3). The baby was placed in a
temperature-controlled incubator within this unit to provide the optimal
environment for their recovery and well-being.

A comprehensive regimen of medications and therapies was established for
the baby's treatment. To alleviate the breathing difficulties, the baby
was administered gentamicin and ampicillin intramuscularly to combat
potential infections. The skin conditions were treated with a
combination of topical medications, including an emulsion of RDen,
mupirocin ointment, Lubratax ointment, erythromycin ointment, and
gentamicin eye ointment. These treatments aim to alleviate skin issues
and promote healing.

In addition to these measures, meticulous eye care was essential due to
visual impairments. Gentamicin eye ointment and injections managed
potential eye infections and protected the baby's delicate eyesight.

Furthermore, a portable brain ultrasound on the newborn revealed no
evident signs of hydrocephalus or midline shift, providing some relief
from concerns related to these conditions. There were no indications of
intraventricular hemorrhage (IVH) or cerebral parenchymal lesions,
underscoring the importance of early monitoring and intervention to
safeguard the baby's neurological health. The multidisciplinary approach
in the NICU, combining respiratory support, dermatological care, eye
treatments, and neurological assessments, aimed to provide the newborn
with the best possible care and enhance their prospects for a healthy
future. Close monitoring and tailored interventions will continue to be
essential to the baby's ongoing care and treatment plan.

Despite all efforts for further investigations and actions to treat the
patient, the baby's family finally discharged the baby from the hospital
with personal consent.

\textbf{Discussion} :

\emph{The mature epidermis is a stratified epithelial tissue composed
predominantly of keratinocytes(4). A syndrome, as related to genetics,
is a group of traits or Conditions that tend to occur together and
Characterize a recognizable disease. Some syndromes have a genetic
Cause.}

Bart syndrome is an unusual condition that combines features from two
distinct disorders, namely aplasia cutis congenita (ACC) and
epidermolysis bullosa (EB)(5). ACC, a rare congenital anomaly
characterized by the absence of skin, was initially documented in 1767
by Cordon(5). Frieden's classification system categorizes ACC into nine
groups based on location and associated abnormalities(5).

\emph{Inherited EB is a group of genetically transmitted Skin disorders.
Ep can be part of other syndromes(6).} It can be marked by skin and
mucous membrane fragility, resulting in blisters with minimal trauma(7).
The clinical diagnosis of aplasia cutis congenital, specifically Bart
syndrome, hinges primarily on identifying classical cutaneous
manifestations, with the extent of involvement contingent upon the mode
of inheritance(8).

In alignment with Omran et al. and Sharif, our case also exhibited skin
lesions and ear malformation(3). In this case, we have seen standard
Apgar scores like Sharif et al. (3). It could be better to have a skin
biopsy and Brain MRI. To achieve a precise postnatal classification of
inherited Epidermolysis Bullosa (EB), it is imperative to employ skin
biopsy as a fundamental diagnostic tool(8). This biopsy specimen should
undergo comprehensive examination, incorporating a blend of
ultrastructural and antigenic assessments through transmission electron
microscopy, immunofluorescence antigenic mapping, and investigations
utilizing EB-specific monoclonal antibodies(8). In the treatment of this
child, due to a skin disorder, the use of CPAP was not possible.
Additionally, vascular access was not performed, and an umbilical
catheter was placed. Antibiotics were administered due to suspicion of a
skin infection with Staphylococcus aureus, and the treatment was carried
out with ampicillin and amikacin.

Management of Bart syndrome involves a comprehensive approach, including
conservative measures, secondary intention healing, and surgical
interventions when warranted. Traditional care primarily focuses on
localized wound treatment and infection control using systemic
antibiotics(5). The routine administration of systemic antibiotics is
not a standard practice, but they may be considered if there are
concerns about infection. While conservative methods suffice for most
patients, those with substantial or deep wounds may require surgical
interventions such as skin grafting or local flap procedures(5).

Conclusion:

Bart syndrome, an infrequent congenital skin disorder characterized by
its distinct clinical features, emphasizes prompt and conservative
management's importance in optimizing outcomes. Vigilant patient
monitoring is advised for tracking progress. \emph{The first examination
of newborns Can guide us to critical Situations. Some Signs are straight
to the diagnosis, but others are conflicting, and one Should. Search for
another disorder already in Syndromes, so physicians Should be aware of
Many syndromes and associations so as not to miss the exact diagnosis.}

\textbf{Keywords:} Pediatric, Bart, Syndrome, Anomaly

\textbf{Authorship List:}

Author Contributions:

Author 1: Dr. Mohammad Amin Eqtedari: Author of the paper.

Author 2: Dr. Monireh Sharafi: Treating physician and provided
scientific oversight for the manuscript.

Author 3: Dr. Abes Ahmadi Jazi: Treating physician and project
correspondent.

* correspond: Dr. Abes Ahmadi Jazi

\textbf{Acknowledgments:}

This research is made possible through the support of the Dezful
University of Medical Sciences. We are grateful for their assistance in
advancing our work.

\textbf{Conflict of Interest Statement:}

The authors declare no conflicts of interest related to this research.
No financial, personal, or professional affiliations or activities could
be perceived as having influenced the study or the manuscript
preparation. We are committed to ensuring the integrity and impartiality
of our work.

\textbf{Consent statement:}

In this study, despite the unfavorable conditions experienced by the
patient's parents and their pursuit of his referral to other cities for
treatment, the patient remained in stable conditions and was
hospitalized in the Neonatal Intensive Care Unit (NICU) due to the
severity of the situation. Nevertheless, verbal and written consent was
obtained from the parents for the academic publication of the material
without disclosing identity and personal information.

\textbf{Key Clinical Message:}

Bart Syndrome, characterized by congenital skin absence, blistering, and
nail abnormalities, presents complex neonatal challenges. This rare
condition demands a multidisciplinary approach for accurate diagnosis
and comprehensive care. Early recognition and management of associated
anomalies are crucial, emphasizing the importance of thorough neonatal
examinations.

\textbf{References:}

1. BART BJ, GORLIN RJ, ANDERSON VE, LYNCH FW. Congenital Localized
Absence of Skin and Associated Abnormalities Resembling Epidermolysis
Bullosa: A New Syndrome. Archives of Dermatology. 1966;93(3):296-304.

2. Gutzmer R, Herbst RA, Becker J, Kiehl P, Bisping-Kuske C, Bohnhorst
B, et al. {[}Bart syndrome--separate entity or a variant of
epidermolysis bullosa?{]}. Hautarzt. 1997;48(9):640-4.

3. Sharif SA, Mohammadzadeh A, Heidari MM, Por RE. A case report of Bart
syndrome. Clin Case Rep. 2023;11(6):e7612.

4. Roberts AM. Chapter XXII. 4. Common Skin Conditions.

5. Kim DY, Lim HS, Lim SY. Bart syndrome. Arch Plast Surg.
2015;42(2):243-5.

6. Boeira VL, Souza ES, Rocha Bde O, Oliveira PD, Oliveira Mde F, R\selectlanguage{ngerman}êgo
VR, et al. Inherited epidermolysis bullosa: clinical and therapeutic
aspects. A Bras Dermatol. 2013;88(2):185-98.

7. Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has
C, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78.

8. Omran A, Elimam D, Mobarak RA, Ibrahim M, El-Sharkawy S. Bart
syndrome with ear malformation. Sultan Qaboos Univ Med J.
2015;15(1):e143-5.

\textbf{Images:}\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image1/image1}

\end{center}
\end{figure}

Figure 1: skin abnormalities and ear and nose abnormalities.\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image2/image2}

\end{center}
\end{figure}

Figure 2: Skin Surface Erythemas\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image3/image3}

\end{center}
\end{figure}

Figure 3: Separation and inadequate formation of scalp skin due to
dryness and illness\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image4/image4}

\end{center}
\end{figure}

Figure 4: Inappropriate conditions of the right ear\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image5/image5}

\end{center}
\end{figure}

Figure 5: Dryness and inadequate formation of skin on the limb\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image6/image6}

\end{center}
\end{figure}

Figure 6: Overall patient condition\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image7/image7}

\end{center}
\end{figure}

Figure 7: patient X-RAY

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