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| CLINICAL QUIZ |
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| Year : 2023 | Volume
: 3
| Issue : 3 | Page : 197-198 |
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A newborn with abnormal skin (answers)
Ketaki Kulkarni, Anup Itihas, Anuragsingh Chandel, Smita Jategaonkar, Manish Jain
Department of Paediatrics, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India
| Date of Submission | 04-Jul-2023 |
| Date of Acceptance | 04-Jul-2023 |
| Date of Web Publication | 14-Aug-2023 |
Correspondence Address:
Dr. Smita Jategaonkar
Department of Paediatrics, Mahatma Gandhi Institute of Medical Sciences, Sewagram, Wardha - 442 102, Maharashtra
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ipcares.ipcares_159_23
How to cite this article:
Kulkarni K, Itihas A, Chandel A, Jategaonkar S, Jain M. A newborn with abnormal skin (answers). Indian Pediatr Case Rep 2023;3:197-8 |
How to cite this URL:
Kulkarni K, Itihas A, Chandel A, Jategaonkar S, Jain M. A newborn with abnormal skin (answers). Indian Pediatr Case Rep [serial online] 2023 [cited 2023 Sep 26];3:197-8. Available from: http://www.ipcares.org/text.asp?2023/3/3/197/383617 |
Question 1: What is the diagnosis of the clinical condition?
Answer: The baby described here shows typical features of harlequin ichthyosis (HI) [Figure 1]. It is a rare disease, with an overall incidence of 1 in 300,000 births.[1],[2]
Question 2: Describe the specific facial features of this condition that can be seen in the baby.
Answer: The face of the newborn appears distorted showing dense opaque scales on the face, causing severe ectropion, eclabium, flattened nose and ear cartilage, and nasal hypoplasia.
Question 3: What genetic defect has been implicated for the condition, and what is the inheritance pattern?
Answer: Harlequin ichthyosis (HI) is a rare and most severe form of autosomal recessive congenital ichthyoses, due to mutations in the ABC transporter ABCA12, a cell membrane transporter involved in lipid transportation, majority being homozygous mutations. Adenosine triphosphate–binding cassette transporter, subfamily A, member 12 is mapped to chromosome 2q33–q35.[3] More than 30 different mutations have been identified in infants with HI. These mutations lead to defective lipid transport which alters the generation of long-chain ceramides essential for normal skin defenses.[4] The defective skin barrier is due to abnormal lamellar granule maturation and secretion, resulting in inadequate delivery of lipids, antimicrobial peptides, and enzymes necessary for keratinocyte desquamation.
Question 4: What are the complications seen in babies with this condition?
Answer: Fetuses affected by this condition usually have a premature birth, thereby having a postnatal risk for complications from early delivery, such as hypothermia, dehydration, hypoglycemia, and hypernatremia. Gradually, the skin of the surviving infants adapts from the aqueous intrauterine to the nonaqueous extrauterine environment, by evolving to generalized erythema, scaling, and palmoplantar keratoderma.
Constriction and swelling of the mouth may interfere with sucking; hence, the infants may need tube feeding. The tightness of the skin pulls around the eyes forcing the eyelids and lips to turn inside out and developing into ectropion with associated chemosis. The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin. They may also have abnormal hearing. Movements of the chest and abdomen may be severely restricted due to tightness of the skin, making breathing and feeding difficult. They may also have frequent respiratory infections and sepsis. The pseudo-contractures of the hands and feet result in restricted movement and impaired perfusion, which may lead to ischemic digital necrosis. The prognosis is poor with high mortality shortly after delivery due to infection, heat loss, dehydration, Electrolyte disturbances, or poor ventilation.[1],[2]
Question 5: What are the salient management strategies?
Answer: A newborn affected with this condition requires care in a neonatal intensive care unit. The baby is to be kept in a humidified incubator, securing an umbilical line for intravenous access, and respiratory support may be given by continuous positive airway pressure. The skin should be wrapped by sterile gauze impregnated with petroleum jelly, with eye pads soaked in saline solution (0.9%) to cover the ectropion, and prophylactic ophthalmic ointments such as tobramycin 0.3% and topical carboxy methylcellulose 0.5% eye drops are advisable to prevent eye infection. The baby is to be managed conservatively with intravenous antibiotics, depending on the septic screen, parenteral nutrition, and oral retinoids, preferably acitretin, which helps in shedding of the hyperkeratotic armored encasement.[5] After sending initial investigations for septic screen and liver and kidney functions, meticulous monitoring for serum electrolytes and blood glucose is required.
Genetic counseling, genetic screening, and prenatal diagnosis must be advised to susceptible parents. The diagnosis may be confirmed by chorionic villus or microscopic analysis of the amniotic fluid cells to detect the concerned mutation. Most of the characteristic ultrasound features of HI appear only later in pregnancy, such as thickening of the skin, ectropion, presence of an abnormal double auricle, a flat ridge of the nose, double lip thickened valgus, a sustained state of an open mouth like a fish's mouth, excessive flexion of the fingers and toes, and cloudy appearance of amniotic fluid with particles, due to shedding of the epidermis.[6]
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal caregiver has given his consent for images and other clinical information to be reported in the journal. The caregiver understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Shrestha AB, Biswas P, Shrestha S, et al. Harlequin ichthyosis: A case report and literature review. Clin Case Rep 2022;10:e6709.  |
| 2. | Tsivilika M, Kavvadas D, Karachrysafi S, et al. Management of harlequin ichthyosis: A brief review of the recent literature. Children (Basel) 2022;9:893. |
| 3. | Kelsell DP, Norgett EE, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005;76:794-803. |
| 4. | Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005;115:1777-84. |
| 5. | Glick JB, Craiglow BG, Choate KA, et al. Improved management of harlequin ichthyosis with advances in neonatal intensive care. Pediatrics 2017;139:e20161003. |
| 6. | Zhou Y, Li L, Wang L, et al. Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review. BMC Med Imaging 2021;21:56. |
[Figure 1]
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