Hypotrichosis congenita hereditaria Marie Unna

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q84.2 Other congenital malformations of the hair
ICD-10 online (WHO version 2019)

The hypotrichosis congenital hereditary Marie Unna , also known as hereditary congenital Hypotrichose type Marie Unna or Unna syndrome (after Marie Unna called) is a rare autosomal - dominant inherited malformation of hair . In the Anglo-Saxon literature, the term Marie Unna hereditary hypotrichosis ( MUHH ) is mostly used.

Prevalence and symptoms

Unna syndrome is a very rare malformation. The prevalence ranges from 1 to 9 per 1 million.

The hypotrichosis congenita hereditaria Marie Unna manifests itself in a way characteristic of this syndrome. Postnatally, the hair is either normal or very thin, or not at all. If hair is visible after birth, it is sparse and sparse in the first few years of life. Later, from around the third year onwards, the hair is coarse and irregularly twisted. If the child was born without hair, it begins to grow after birth. Later on, the hair of all children is coarse, wiry and difficult to style. Progressive hair loss occurs with puberty and begins at the top of the head.

Otherwise, those affected do not show any abnormalities. The teeth, the nails, the rest of the skin and their perspiration behavior are normal.

Genetics and Pathogenesis

The cause of the malformations of the hair are mutations in the vicinity of the hairless gene ( HR gene, also called MUHH gene), which is located in humans on chromosome 8 gene locus p21.2. However, the HR gene itself is not affected by the mutation, rather a 5'-UTR ( five prime untranslated region ). The HR gene codes for a protein that is involved in the process of hair growth. This protein acts as a transcriptional corepressor for various nuclear receptors such as the thyroid hormone receptor , the vitamin D receptor and orphan receptors , which are related to retinoic acid receptors . There are also interactions with the histone deacetylases . The translation of the gene product is modulated by a large number of open reading frames (ORF) which precede the primary ORF. Mutations in one of these upstream ORFs , actually the second one - called U2HR - cause Unna syndrome. U2HR itself codes for a peptide that consists of 34 amino acids and is highly conserved in mammals . A number of different mutations were found in the affected patients in U2HR: nonsense , missense and readthrough . All of these mutations lead to an increased translation of the physiological ORF of the HR gene.

Mutations in the HR gene can also cause the autosomal recessive form of alopecia ( alopecia universalis congenita ) and atrichia with papular lesions (APL).

diagnosis

The diagnosis can usually be made based on the symptoms and family history in the anamnesis . A DNA analysis can be used to confirm the diagnosis.

therapy

A correction of the malformations of the hair is not yet possible. Affected patients often make do with wigs or hair transplants .

Initial description

The hereditary congenital hypotrichosis type Marie Unna was first described in 1925 by the German dermatologist Marie Unna in 27 members from 7 generations of a north German family.

further reading

  • J. Green et al .: Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna. In: J Investig Dermacol Symp Proc. 8, 2003, pp. 121-125 PMID 12895008
  • PP He ua: Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3. In: British Journal of Dermatology 150, 2004, pp. 837-842. PMID 15149494
  • SN Wong et al: Marie Unna hypotrichosis in a Chinese family. In: Pediatric Dermatology . 19, 2002, pp. 250-255. PMID 12047647
  • S. Cichon et al .: A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. In: British Journal of Dermatology. 143, 2000, pp. 811-814. PMID 11069461
  • GP Sreekumar et al .: Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. In: Journal of Investigative Dermatology . 114, 2000, pp. 595-597. PMID 10777357
  • P. Lefevre et al .: Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. In: Eur J Hum Genet. 8, 2000, pp. 273-279. PMID 10854110
  • M. van Steensel et al: The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing. In: AJHG. 65, 1999, pp. 413-419. doi: 10.1086 / 302506 PMID 10417283
  • B. Mende, HW Kreysel: Hypotrichosis congenita hereditaria Marie Unna with Ehlers-Danlos syndrome and atopy. In: The dermatologist . 38, 1987, pp. 532-535. PMID 3692855
  • G. Wirth et al: Hypotrichosis congenita hereditaria Maria Unna. In: The dermatologist. 36, 1985, pp. 577-580. PMID 4066319
  • BG Wakkers-Garritsen: Hypotrichosis congenita hereditaria (Marie Unna). In: Dermatologica . 148, 1974, pp. 51-52. PMID 4831965
  • E. Ludwig: Hypotrichosis congenita hereditaria type M. Unna. In: Archives for Dermatology and Syphilis . 196, 1953, pp. 261-278. doi : 10.1007 / BF00362052

Web links

Individual evidence

  1. ↑ a b c d Hypotrichosis congenita hereditaria Marie Unna. In: Orphanet (Rare Disease Database).
  2. ↑ S. Yang et al .: Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1-1q21.3. In: Journal of Investigative Dermatology 125, 2005, pp. 711-714. doi: 10.1111 / j.0022-202X.2005.23874.x
  3. ^ Hypotrichosis congenita hereditaria Marie Unna.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ a b Entrez Gene: HR hairless homolog (mouse) [Homo sapiens]. Retrieved November 24, 2009.
  5. ^ Y. Wen et al.: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. In: Nature Genetics 41, 2009, pp. 228-233. doi: 10.1038 / ng.276
  6. ↑ P. Altmeyer: Entry on Hypotrichosis congenita hereditaria Marie Unna In: Enzyklopädie der Dermatologie, Venerologie, Allergologie, Umweltmedizin. Springer-online, accessed on November 13, 2018
  7. ↑ M. Unna: About Hypotrichosis congenita hereditaria. In: Derm Wschr. 81, 1925, pp. 1167-1178.