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tight skin contracture syndrome

MIM.275210

Thursday 10 February 2005

Autosomal recessive dermopathy.

Synopsis

- systemic anomalies

- craniofacial anomalies

- cardiovascular anomalies

- thoracic anomalies

  • pulmonary hypoplasia
  • increased anterioposterior diameter of chest
  • thin, dysplastic bipartite clavicles
  • ribbon-like ribs

- genito-urinary anomalies

- skeletal anomalies

- cutaneous anomalies

  • skin erosions
  • prominent superficial vasculature
  • skin fissures (groin, axilla, neck)
  • epidermal hyperkeratosis
  • Dermis thinning
  • abnormal alignment of collagen bundles
    - *absence of normal rete ridge pattern
  • short nails
  • long nails
  • sparse/absent eyelashes
  • sparse/absent eyebrows
  • sparse/absent lanugo
  • normal scalp hair

- adrenal hypoplasia

Etiology

- germline mutations in the ZMPSTE24 gene (FACE1) at 1p34 (MIM.606480) (15317753)