Biomaterial Database

Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves. 1986

Y Itoh, and S Yagishita, and S Nakajima, and T Nakano, and H Kawada

A rare case of congenital insensitivity to pain with anhidrosis is presented. The male patient, who expired at 17 years of age, was noted insensitive to pain and bouts of unexplained fever at birth. He frequently fractured the hands and feet with secondary osteomyelitis. He did not sweat even in warm season. The intradermal nerve fibres and sweat glands were normal in distribution. The peripheral nerve seemed to be almost normal with light microscopy but the electron microscopical study revealed extreme paucity of unmyelinated fibers and a reduction of myelinated fibres, especially of small caliber. Abundant collagen fibrils comprised the endoneurium. There were no regenerative and/or degenerative changes of axons and myelin sheaths. The pathology of the peripheral nerve was considered to be congenital. Our case might belong to a category of congenital sensory neuropathy with anhidrosis (Pinsky and Di George 1966), congenital insensitivity to pain with anhidrosis (Gillespie and Perucca 1960) or hereditary sensory neuropathy type IV (Dyck and Ohta 1975, Goebel et al 1980).

UI	MeSH Term	Description	Entries
D007007	Hypohidrosis	Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.	Anhidrosis
D008297	Male		Males
D008475	Median Nerve	A major nerve of the upper extremity. In humans, the fibers of the median nerve originate in the lower cervical and upper thoracic spinal cord (usually C6 to T1), travel via the brachial plexus, and supply sensory and motor innervation to parts of the forearm and hand.	Median Nerves,Nerve, Median,Nerves, Median
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009410	Nerve Degeneration	Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.	Neuron Degeneration,Degeneration, Nerve,Degeneration, Neuron,Degenerations, Nerve,Degenerations, Neuron,Nerve Degenerations,Neuron Degenerations
D009413	Nerve Fibers, Myelinated	A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.	A Fibers,B Fibers,Fiber, Myelinated Nerve,Fibers, Myelinated Nerve,Myelinated Nerve Fiber,Myelinated Nerve Fibers,Nerve Fiber, Myelinated
D009477	Hereditary Sensory and Autonomic Neuropathies	A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)	HSAN,HSAN Type I,HSAN Type II,HSAN Type IV,HSAN Type V,HSN Type I,HSN Type II,Insensitivity to Pain with Anhidrosis, Congenital,Neuropathies, Hereditary Sensory and Autonomic,Pain Insensitivity with Anhidrosis, Congenital,Sensory Neuropathy, Hereditary,Sensory and Autonomic Neuropathies, Hereditary,Acroosteolysis, Giaccai Type,Acroosteolysis, Neurogenic,Congenital Insensitivity to Pain with Anhidrosis,Familial Dysautonomia, Type 2,Familial Dysautonomia, Type II,Giaccai Type Acroosteolysis,HSAN (Hereditary Sensory Autonomic Neuropathy),HSAN 1,HSAN 4,HSAN 5,HSAN I,HSAN IV,HSAN V,HSAN2,HSAN5,HSANII,Hereditary Sensory And Autonomic Neuropathy IV,Hereditary Sensory Autonomic Neuropathy, Type 1,Hereditary Sensory Autonomic Neuropathy, Type 2,Hereditary Sensory Autonomic Neuropathy, Type 4,Hereditary Sensory Autonomic Neuropathy, Type 5,Hereditary Sensory Neuropathy Type 1,Hereditary Sensory Neuropathy Type I,Hereditary Sensory Neuropathy Type Ia,Hereditary Sensory Radicular Neuropathy,Hereditary Sensory Radicular Neuropathy, Recessive Form,Hereditary Sensory and Autonomic Neuropathy 4,Hereditary Sensory and Autonomic Neuropathy Type 1,Hereditary Sensory and Autonomic Neuropathy Type 2,Hereditary Sensory and Autonomic Neuropathy Type I,Hereditary Sensory and Autonomic Neuropathy Type II,Hereditary Sensory and Autonomic Neuropathy Type IV,Hereditary Sensory and Autonomic Neuropathy Type V,Hereditary Sensory and Autonomic Neuropathy, Type 4,Hereditary Sensory and Autonomic Neuropathy, Type 5,Insensitivity to Pain, Congenital, with Anhidrosis,Neurogenic Acroosteolysis,Neuropathy Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy Hereditary Sensory and Autonomic Type 1,Neuropathy, Congenital Sensory,Neuropathy, Congenital Sensory, with Anhidrosis,Neuropathy, Hereditary Sensory And Autonomic, Type I,Neuropathy, Hereditary Sensory And Autonomic, Type V,Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive,Neuropathy, Hereditary Sensory, Type I,Neuropathy, Progressive Sensory, Of Children,Acroosteolyses, Neurogenic,Congenital Sensory Neuropathies,Congenital Sensory Neuropathy,HSANs (Hereditary Sensory Autonomic Neuropathy),HSN Type IIs,Hereditary Sensory Neuropathies,Hereditary Sensory Neuropathy,Neurogenic Acroosteolyses,Neuropathies, Congenital Sensory,Neuropathies, Hereditary Sensory,Neuropathy, Hereditary Sensory,Sensory Neuropathies, Congenital,Sensory Neuropathies, Hereditary,Sensory Neuropathy, Congenital,Type I, HSAN,Type I, HSN,Type IV, HSAN
D010525	Peripheral Nerves	The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.	Endoneurium,Epineurium,Perineurium,Endoneuriums,Epineuriums,Nerve, Peripheral,Nerves, Peripheral,Perineuriums,Peripheral Nerve
D003094	Collagen	A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).	Avicon,Avitene,Collagen Felt,Collagen Fleece,Collagenfleece,Collastat,Dermodress,Microfibril Collagen Hemostat,Pangen,Zyderm,alpha-Collagen,Collagen Hemostat, Microfibril,alpha Collagen
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man