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