Monilethrix

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Classification according to ICD-10
Q84.1 Congenital morphological disorders of hair, not elsewhere classified - Monilethrix
ICD-10 online (WHO version 2019)
Monolithirix new photo for diagnosis.jpg

Monilethrix , ( spindle hair , from Latin monile , “collar, necklace”, and ancient Greek θρίξ thrix , “hair”) is a very rare congenital genodermatosis with an irregular, brittle hair structure due to dysplasia of the hair shaft and clinically hypotrichosis .

Synonyms are: monilethrichosis; Monilethrix syndrome; Spindle hair; Sabouraud Syndrome; Monilitrichia; Latin Aplasia moniliformis; Aplasia pilorum intermittens; Aplasia pilorum moniliformis; Aplasia cilorum miniliformis

The first description comes from the year 1879 by WG Smith, the first comprehensive description by the French dermatologist Raymond Jaques Sabouraud in 1892.

distribution

The incidence is unknown, heredity takes place in an autosomal dominant or autosomal - recessive .

root cause

The disease are inherited dominant-in, common form different mutations in KRT81-, KRT83- or KRT86 - gene on chromosome 12 locus q13 based encoding the type II hair keratins H b1, Hb3 and HB6.

The isolated recessive-inherited forms are based on mutations in the DSG4 gene on chromosome 18 at q12, which codes for desmoglein 4.

Mutations in the same gene also cause the clinically similar localized autosomal recessive hypotrichosis (hypotrichosis simplex) .

Clinical manifestations

Clinical criteria are:

  • Onset of disease in infancy, scalp hair normal at birth
  • brittle hair in the first few months that break off after a few millimeters
  • Localization mostly in the neck and back of the head
  • Keratosis follicularis ( Lichen pilaris )
  • Koilonychia

add to cataract , dental abnormalities, Cutis elastica (sagging skin), syndactyly , epilepsy or schizophrenia come.

Differential diagnosis

The pseudo-Monilethrix is ​​to be distinguished .

forecast

In the localized form, regression can occur; the changes usually decrease over time. However, deterioration may occur during puberty or pregnancy .

literature

  • J. Schweizer: More than one gene involved in monilethrix: intracellular but also extracellular players. In: The Journal of investigative dermatology. Vol. 126, No. 6, June 2006, pp. 1216-1219, doi: 10.1038 / sj.jid.5700266 , PMID 16702971 .
  • D. Carreras: Monilethrix: a review and case report. In: Pediatric dentistry. Vol. 18, No. 4, 1996 Jul-Aug, pp. 331-333, PMID 8857664 (review).
  • T. Salamon, UW Schnyder: About the Monilethrix. In: Archives for Clinical and Experimental Dermatology. Vol. 215, 1962, pp. 105-136, PMID 13991022 .

Individual evidence

  1. ↑ a b c d Moniletrix. In: Orphanet (Rare Disease Database).
  2. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ^ WG Smith: A rare nodose condition of the hair. In: British Medical Journal Vol. 2, pp. 291-292, 1879
  4. ^ R. Sabouraud: Sur les cheveux maniliformes. In: Annales de Dermatologie et de Vénéréologie Vol. 3, pp. 781–793, 1892
  5. ↑ J. Schweizer: More than one gene involved in monilethrix: intracellular but also extracellular players. In: Journal of Investigative Dermatology 2006, Vol. 126, pp. 1216-1219. PMID 16702971 .
  6. ↑ Monilethrix.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Hypotrichosis simplex. In: Orphanet (Rare Disease Database).

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