Youngest netherton patient with infantile asthma.
نویسندگان
چکیده
Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six months old girl presenting with the feature of severe respiratory distress, generalized erythrodermia, and brittle hair.
منابع مشابه
Infantile intracranial aneurysm: report of a case and review of the literature.
The CT and angiographic diagnosis and successful surgical treatment of a ruptured cerebral aneurysm in a 1-month-old girl are described. The incidence of intracranial aneurysms in infancy is less than 1 % [1] . A review of intracranial aneurysms in the neonate and infant is presented to define clearly the incidence and clinical characteristics of aneurysms in this age group. We have reviewed 43...
متن کاملNetherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case
BACKGROUND Comèl-Netherton syndrome is an inherited ichthyosis that is associated with highly impaired epidermal cornification and barrier function. Literature sparsely reports of the occurrence of early onset skin cancer in people with Netherton syndrome. To the best of our knowledge the suitability of the severely altered skin in patients with Netherton syndrome for techniques of facial plast...
متن کاملIs c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherto...
متن کامل3-Dimensional computed tomography imaging of the ring-sling complex with non-operative survival case in a 10-year-old female
We report a case of a 10-year-old female patient who survived ring-sling complex without surgery. The patient had congenital wheezing from the neonatal period and was treated after a tentative diagnosis of infantile asthma. The patient suffered from allergy and was hospitalized several times due to severe wheezing, and when she was 22 months old, she was diagnosed with ring-sling complex. We us...
متن کاملNetherton syndrome: report of two cases
Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Tuberkuloz ve toraks
دوره 56 1 شماره
صفحات -
تاریخ انتشار 2008