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