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Ichthyosis-hypotrichosis syndrome

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Disease definition

Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

ORPHA:91132

Classification level: Disorder

Synonym(s):
  • Hypotrichosis-congenital ichthyosis syndrome
  • IFAH syndrome
  • IHS
  • Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
  • Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q80.8

ICD-11: LD27.2

OMIM: 602400

UMLS: C4510566

GARD: 10116

A summary on this disease is available in Français (2007) Español (2007) Deutsch (2007) Italiano (2007) Nederlands (2007)
Detailed information
Guidelines
Emergency guidelines
Français (2018.pdf) - Orphanet Urgences
Clinical practice guidelines
Disease review articles
Clinical genetics review
English (2013.pdf) - Eur J Hum Genet

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