Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV)
Φόρτωση...
Ημερομηνία
Συγγραφείς
Hatzis, J.
Gourgiotou, K.
Koumelas, D.
Makaronis, G.
Varelzidis, A.
Stratigos, J.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Australas J Dermatol
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.
Περιγραφή
Λέξεις-κλειδιά
Child, Preschool, Follow-Up Studies, Hereditary Sensory and Autonomic Neuropathies/complications/*diagnosis, Humans, Hypohidrosis/complications/*diagnosis, Male, Pain Insensitivity, Congenital/diagnosis
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/1284106
http://onlinelibrary.wiley.com/store/10.1111/j.1440-0960.1992.tb00091.x/asset/j.1440-0960.1992.tb00091.x.pdf?v=1&t=h2lkzyf4&s=4fc6de0d4bbfee7468defaed08042471c15d0eae
http://onlinelibrary.wiley.com/store/10.1111/j.1440-0960.1992.tb00091.x/asset/j.1440-0960.1992.tb00091.x.pdf?v=1&t=h2lkzyf4&s=4fc6de0d4bbfee7468defaed08042471c15d0eae
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής