Congenital ichthyosiform erythroderma with non- syndromicclinical presentation of short stature
Publish Year: 1390
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_INTJMI-1-1_001
تاریخ نمایه سازی: 15 مهر 1398
Abstract:
In this article we report a 10 years old boy with congenital ichthyosiform erythrodermaand short stature.He was born as a collodion baby. Skeletal manifestations were shortstature (Height zscore of -5), delayed bone age with normal serum calcium andphosphorus level and upper to lower ratio of 1.09 (U/L=1.09). This case showed anincreasing ALP and LDH in several lab data. Lab evaluations of hair, eyes, ears andmental status were all normal. In the skeletal radiographies there was no finding tosupport Rickets.The cited features do not match with syndromes that contain congenital ichthyosiformerythroderma such as Netherton syndrome, Tay syndrome, Run syndrome etc.Please provide your thoughts or other syndromes to consider to aid in the treatment ofthis child.
Authors
Nosrat Ghaemi
Department of Pediatric Endocrinology
Daniel Zamanfar
Department of Pediatric Endocrinology
Aida Sharifi Haddad
Medical Student,Mashhad University Of Medical Sciences
Reza Azadi
Resident of Dermatology