Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair
نویسندگان
چکیده
منابع مشابه
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of short, brittle hair and an abnormally low sulfur content. Within the spectrum of the TTD syndromes are numerous interrelated neuroectodermal disorders. The TTD syndromes show defective synthesis of high-sulfur matrix proteins. Abnormalities in excision repair of ultr...
متن کاملHAX1 mutation in an infant with severe congenital neutropenia.
Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated matur...
متن کاملEvaluation of an Infant with Cholestasis and Congenital Hypopituitarism
We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.
متن کاملReport of a Congenital Ichthyosis
A case of congenital ichthiosis 1s presented. Histologic pattern and the treatment is discussed.
متن کاملcongenital brucellosis in an infant
background brucellosis is a zoonotic disease involving several organs with different presentations. it is primarily a disease of animals. human infection is usually acquired by close contact with infected animals or consumption of unpasteurized dairy products. the major reservoirs include goat, sheep, swine and cattle. human to human transmission of brucellosis is a rare entity, especially peri...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neonatology Today
سال: 2021
ISSN: 1932-7137,1932-7129
DOI: 10.51362/neonatology.today/2021161143146