Neuropathy, hereditary sensory and autonomic, type I M89.8
Synonym(s)
Acrodystrophy primary neuropathic; Acroosteolysis familial; Acroosteopathy ulcero-mutilans familiaris; Congenital sensory neuropathy; Familial acroosteolysis; Hereditary Sensitive Neuropathy Type I; HSN Type I; Nélaton syndrome; Neuropathy congenital sensory; OMIM 162400; OMIM 613640; primary neuropathic acrodystrophy; Thevenard's disease; Thévenard's disease; Thevenard Syndrome; Thévenard Syndrome
History
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Nelaton, 1852; Thévenard, 1942
Definition
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"Hereditary Sensory and Autonomic Neuropathy Type I/HSAN I" (historical synonym: familial neurogenic acroosteolysis or Thévenard syndrome) refers to a degenerative disease of the peripheral nerves of the posterior spinal nerve roots of unknown cause, characterized by consequent polyneuropathy and the occurrence of painless, deep ulcers on the feet and hands.
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Etiopathogenesis
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Autosomal dominant inheritance, low penetrance, variable expressivity. Mutations at the 9q22 gene locus(SPTLC1 gene) are among those discussed. Other families have been associated with mutations of the 14q24.3 gene locus (SPTLC2 gene). Both mutaions lead to different defect variants of the enzyme serine palmitoyltransferase (SPT).
Manifestation
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2nd to 3rd decade of life, rarely in childhood. Male sex preferred.
Localization
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Lower extremities, less pronounced also upper extremities.
Clinic
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Symmetrically arranged, stocking-shaped sensory disturbances for pain, temperature and touch, occasionally pyramid signs (Babinski positive). Often weakened tendon reflexes. Painless ulcers, initially mostly on one side, later on both sides, especially in areas under pressure. Acrocyanosis and swelling of fingers and toes. Acroosteolyses, osteoporosis, possibly muscular atrophies, flat feet, splayfeet.
Differential diagnosis
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Syringomyelia, Acropathia ulcero-mutilans non-familiaris, Tabes dorsalis, leprosy, polyneuropathies (alcohol, diabetes mellitus, vitaminB1 deficiency); HSN type II;
Therapy
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Symptoms: Avoidance of local mechanical stimuli and pressure points (e.g. orthopaedic shoes), instruction for daily detailed self-examination for the smallest injuries, treatment of the ulcers with anti-infectious and wound healing promoting substances, see below wound treatment. Cooperation with neurologists and orthopaedic surgeons.
Progression/forecast
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Slowly progressive course, usually relatively benign (no pronounced mutilations).
Literature
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- Auer-Grumbach M et al (2003) Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol 60: 329-334
- Auer-Grumbach M et al (2000) Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 54: 45-52
- Bejaoui K et al (2002) Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 110: 1301-1308
- Bejaoui K et al (1999) Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosomes 9q22 Neurology 52: 510-515
- Bockers M et al (1989) Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. J Am Acad Dermatol 21: 736-739
- Gable K et al (2002) Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. J Biol Chem 277: 10194-10200
- Child R (1976) On the syndrome of acroosteopathy ulcero-mutilans Thévenard. Z Hautkr 51: 927-932
- Nélaton A (1852) Affection singulière des os du pied. Gazette des hôpitaux, (Paris) 4: 13
- Thévenard A (1942) L'acropathie ulcéro-mutilante familiale. Rev Neurol (Paris) 74: 193-212
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Incoming links (13)
Acrodystrophy, primarily neuropathic; Acrodystrophy, primary neuropathic; Acroosteolysis; Acroosteolysis, familial; Acroosteopathy ulcero-mutilans familiaris; Acropathia ulcero-mutilans non-familiaris; Alcohol skin changes; Malum perforans; Neuropathic ulcer ; Neuropathy, congenital sensory; ... Show allOutgoing links (11)
Acrocyanosis; Acropathia ulcero-mutilans non-familiaris; Dorsal tabs; Leprosy (overview); Malum perforans; Polyneuropathies; SPTLC1 Gene; SPTLC2 Gene; Syringomyelia, skin alterations; Ulcer of the skin (overview); ... Show allDisclaimer
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Prof. Dr. med. Peter Altmeyer
