Ichthyosiform lesion at birth demystifying familial short st
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Conradi-Hunermann syndrome is a rare genetic condition characterized by skeletal malformations, skin abnormalities, cataracts and short stature.

A term female baby weighing 2.9 kg was admitted to the neonatal intensive care unit with a diffuse skin rash that was noticed at birth. The baby was born at 41 weeks gestation to a second gravida mother who had a normal pregnancy.

The infant's skin had irregular thickening, dryness, and dark adherent scales, which were most visible on the right side of the body. The lesions were arranged in a blotchy, linear pattern that followed the Blaschko Lines more details and were surrounded by erythema. Depressed nasal bridge, mid-facial hypoplasia, anteverted nostrils, a long philtrum with a thin upper lip, hoarse speech, flexion contracture of fingers, sparse lusterless hair with cicatricial alopecia, and dystrophic nails were also present in the neonate.

The right arm and thigh were shortened. X-rays revealed shortening of the right femur and humerus, defects in the bodies of thoracic vertebrae, scoliosis, and epiphyseal stippling of long bones on the right side.

A clinical diagnosis of Conradi–Hunermann syndrome was considered based on the clinical and radiological findings and possible X-linked dominant inheritance. Analysis of sterols by gas chromatography–mass spectrometry and genetic analysis for the EBP mutation were not done. The infant was initiated on emollient application and genetic counseling for the family was done.

Conradi–Hunermann syndrome's clinical diagnosis can be made based on clinical profile, radiological evaluation, and family history suggestive of X-linked dominant pattern.


Source: https://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=2;spage=151;epage=153;aulast=Kumar
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