Acropathia ulcero-mutilans familiaris

from Wikipedia, the free encyclopedia
Classification according to ICD-10
M89.8 Other specified bone diseases
ICD-10 online (WHO version 2019)

The Acropathia ulcero-mutilans familiaris is a very rare congenital disease with the main features of degeneration of peripheral nerves , especially the dorsal roots of the spinal nerves with Resulting polyneuropathy and appearance of painless, deep  ulcers on feet and hands.

Synonyms are: Latin Acroosteopathia ulcero-mutilans familiaris ; primary neuropathic acrodystrophy; familial acroosteolysis; Thévenard Syndrome; congenital sensory neuropathy; Nélaton Syndrome; English Hereditary Sensory Neuropathy Type I; HSAN Type I; Hereditary Sensory Radicular Neuropathy, Autosomal Dominant; HSN1

The names refer to the author of the first description from the year 1852 by the French surgeon Auguste Nélaton and in 1942 by the French doctor André Thévenard .

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The exact cause is not yet known so far were mutations in SPTLC1 - gene in chromosome 9 locus q22 with defects of the enzyme serine palmitoyltransferase and in chromosome 3 locus q13-22 described.

classification

In 2008, M. Auer-Grumbach proposed the following subdivision of Hereditary Sensory Neuropathy Type I:

  • Type HSN IA with mutations in the SPTLC1 gene in chromosome 9 at q21.1-a22.3
  • Type HSN IB with as yet unknown gene mutations in chromosome 3 on p24-p22
  • Type HSN IC , synonyms CMT2B, HSMN IIB , with mutations in the RAB7 gene in chromosome 3 gene location q21
  • Type HNS ID with as yet unknown mutations

Clinical manifestations

Clinical criteria are:

  • Manifestation in the 2nd to 3rd decade of life, male gender preferred
  • The main localization is the lower limbs
  • Symmetrical decrease in sensation for pain, temperature and touch
  • Often weakened tendon reflexes
  • Painless ulcers, initially mostly on one side, later on both sides, especially at the pressure points
  • Later there are acrocyanoses , swelling of the fingers and toes, bony changes such as acroosteolysis , osteoporosis

Differential diagnosis

Must be distinguished are the syringomyelia ,  tabes dorsalis ,  leprosy , the Bureau-Barrière syndrome  and various forms of polyneuropathy .

therapy

Treatment can only be symptomatic; thorough self-examination for injuries and ulcers is recommended.

literature

  • AJ Lindahl, SD Lhatoo, MJ Campbell, G. Nicholson, S. Love: Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings. In: Clinical neurology and neurosurgery. Vol. 108, No. 8, December 2006, pp. 780-783, doi: 10.1016 / j.clineuro.2005.09.009 , PMID 16271825 .

Individual evidence

  1. ↑ a b c d e Encyclopedia Dermatology
  2. ^ A. Nélaton: Affection singulière des os du pied. In: Gazette des hôpitaux , (Paris) Vol. 4,1852, p. 13
  3. ↑ A. Thevenard: L'acropathie ulcero-mutilante familiale . In: Revue Neurologique (Paris) Vol. 74, 1942, pp. 193-212
  4. ^ A b Who named it Nélaton's syndrome
  5. ↑ M. Auer-Grumbach: Hereditary sensory neuropathy type I. In: Orphanet Journal of Rare Diseases. Vol. 3, 2008, p. 7, doi: 10.1186 / 1750-1172-3-7 , PMID 18348718 , PMC 2311280 (free full text) (review).
  6. ↑ NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B.  In: Online Mendelian Inheritance in Man . (English)

Web links