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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 127

A Newborn with Abnormal Skin (Questions)

Department of Paediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Maharashtra, India

Date of Submission08-Dec-2022
Date of Decision19-Mar-2023
Date of Acceptance08-Apr-2023
Date of Web Publication24-May-2023

Correspondence Address:
Dr. Smita Jategaonkar
Department of Paediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram - 442 102, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_281_22

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How to cite this article:
Kulkarni KM, Itihas A, Chandel A, Jategaonkar S, Jain M. A Newborn with Abnormal Skin (Questions). Indian Pediatr Case Rep 2023;3:127

How to cite this URL:
Kulkarni KM, Itihas A, Chandel A, Jategaonkar S, Jain M. A Newborn with Abnormal Skin (Questions). Indian Pediatr Case Rep [serial online] 2023 [cited 2023 Jun 6];3:127. Available from: http://www.ipcares.org/text.asp?2023/3/2/127/377516

A preterm baby girl of 34-week gestation, second in birth order, born out of a nonconsanguineous marriage, by lower-segment cesarean section, to a mother who had type II diabetes mellitus and hypothyroidism, presented with abnormal thickening of the skin all over the body. The antenatal and natal periods had been uneventful. The antenatal ultrasonograms performed at 33-week gestation revealed mild oligohydramnios with no other significant abnormality. The baby passed meconium and urine after 8 and 12 h, respectively. The elder sibling was healthy, and the family history was not contributory.

On examination, the baby was normothermic and had a heart rate of 140/min, respiratory rate of 50/min, and normal capillary filling time. The weight was 2.4 kg (Z-score: 0.65, appropriate for gestational age), length 47 cm (Z-score: 1.14), and head circumference 35 cm (Z-score: 2.93). The entire body showed generalized cream-colored, thickened skin with dense, plate-like keratotic scales punctuated by deep red fissures and creases [Figure 1] with bleeding from some of the creases. The facial features appeared distorted. The limbs were in a semi-flexed position, with flexion contractures at elbows and knees with limited mobility, associated with clubfoot and subcutaneous edema over the hands and feet. There was partial loss of hair on the scalp and absent nails. Examination of the respiratory, cardiovascular, abdominal, and central nervous systems was gestational-age appropriate.


  1. What is the diagnosis of the clinical condition?
  2. Describe the specific facial features of this condition, that can be seen in the baby
  3. What genetic defect has been implicated for the condition, and what is the inheritance pattern?
  4. Name any four complications seen in babies with this condition
  5. What are the salient management strategies and what is the role of prenatal diagnosis?

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given consent for the images and other clinical information to be reported in the journal. The guardian understands that the name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.


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