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Congenital insensitivity to pain with anhydrosis: report of a family case [PDF]

The Pan African Medical Journal, 2011
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV.
Smael Labib, Mohamed Adnane Berdai, Sanae abourazzak, Mustapha Hida, Mustapha Harandou   +4 more
doaj   +4 more sources

Congenital Insensitivity to Pain and Anhidrosis [PDF]

Archives of Plastic Surgery, 2016
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy has five different clinical subtypes. Congenital insensitivity to pain and anhidrosis (CIPA) is HSAN type IV. CIPA is a rare disease with an autosomal recessive inheritance. Recurrent episodes of fever, no sweating, insensitivity to pain, and self-injury are symptoms of
Jin Yong Shin, Sun-Woo Kim, Si-Gyun Roh, Nae-Ho Lee, Kyung-Moo Yang   +4 more
doaj   +3 more sources

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal [PDF]

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature.
Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma   +4 more
doaj   +2 more sources

A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1).
Anders Kjellberg, Rebecca Gustafsson, Pavel Antonsson, Henrik Hedelin   +3 more
doaj   +2 more sources

Congenital Insensitivity to Pain

Online Journal of Health & Allied Sciences, 2011
Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation.
Praveen Kumar B,, Sudhakar S,, Prabhat MPV,   +2 more
doaj   +1 more source

Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us? [PDF]

BMC Oral Health
Background Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare congenital disorder characterized by severe clinical and oral manifestations.
Katibe Tugce Temur
doaj   +2 more sources

Congenital Insensitivity to Pain (HSNA type IV)

Pediatric Neurology Briefs, 2015
Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched ...
J Gordon Millichap
doaj   +4 more sources

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self‐Injury Complications in a 5‐Year‐Old Boy: A Case Report [PDF]

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such
Zubair Amin, Humza Saeed, Syed Imam Naufil, Sadaf Saba, Abdullah Imtiaz, Syed Hassan Akhlaq, Muhammad Husnain Ahmad, Masab Ali   +7 more
doaj   +2 more sources

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain [PDF]

Frontiers in Genetics
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his aunt
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost   +12 more
doaj   +2 more sources

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae.
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan   +9 more
doaj   +2 more sources