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I n t e r n a t i o n a l C o n f e r e n c e o n
Physicians, Surgeons and
Case Reports
November 19-20 , 2018
Par i s , France
Medical Case Reports
ISSN: 2471-8041
PSCR 2018
C
ongenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (
ILNEB
) is thought to be caused by
mutation in the alpha 3 integrin gene (
ITGA3
). Alpha 3 integrin heterodimerises with beta 1 integrin and functions as a
receptor for extracellular matrix proteins. It is important for cellular adhesion and is a component of fetal and adult tissues.
To date, only six patients with
ILNEB
syndrome have been reported. All the patients carried homozygous
ITGA3
mutations and
presented with severe phenotypes that culminated in death before two years of life. In this report, we present an atypical case of
the
ILNEB
syndrome. A nine-year-old female child, second born of third degree consanguineous parents, came with complaints
of insidious onset breathlessness for the past six months. Antenatal, natal and perinatal period were uneventful. The child was
apparently normal till two years of age after which she developed blistering skin lesions that healed with scarring. She also had
a history of passing foamy, frothy urine since the fourth year of life. On examination she had normal mentation, short stature, toe
nail dystrophy, scarring at rest alopecia and epihora. She was tachypenic but could do her activities of daily living. Investigations
revealed massive proteinuria suggestive of nephrotic syndrome, high resolution computed tomography suggestive of interstitial
lung disease and skin biopsy revealed epidermolysis bullosa. The patient was given supportive treatment and her peripheral
blood sample was subjected to next generation sequencing, which revealed a homozygous 3’ splice site mutation in intron 13
of the
ITGA3
gene. Our sequencing efforts suggested the presence of an
ITGA3
psuedogene. This pseudogene could express a
truncated but partially functional version of the
ITGA3
protein, which would explain the milder clinical symptoms in this patient.
We are investigating this possibility. In summary, we describe a rare variant of the
ILNEB
syndrome associated with a homozygous
mutation in the
ITGA3
gene. The presentation of milder phenotypes in this case is distinct from previously reported instances of
this syndrome where all patients died by 19 months of age from multi-organ failure.
stanislau.makaranka@nhs.netA case report on rare variant of ILNEB syndrome
Sumitha Tarur, T Arasar seeralar and S Srinivasan
Institute of Child Health and Hospital-Madras Medical College, India
Med Case Rep. 2018, Volume:4
DOI: 10.21767/2471-8041-C2-006