[MIM 148 210, 242 150, 602 540]

(Senter syndrome,  HID syndrome, Desmons syndrome, Desmons-Britton syndrome)

Acronym for Keratitis Ichtyosis Deafness.

Known as Senter syndrome in case of autosomal dominant transmission and Desmons or Desmons-Britton syndrome in case of autosomal recessive inheritance. Most cases are sporadic.

Form of congenital ichthyosis associated with extracutaneous signs. Mutation of the GJB2 gene (13q11-q12) that codes for connexin 26 or, more rarely, mutation of the GJB6 gene (recessive form). 

Association of:

-        vascular punctiform keratitis that appears in childhood and progresses to blindness

-        sensorineural deafness

-        ichthyosis:  well demarcated erythematous hyperkeratotic plates, symmetrically on the face (face, scalp, ears) and limbs.

At birth: generalized erythema and ichtyosiform lesions.

There is also a palmoplantar keratoderma. Follicular hyperkeratosis may result in alopecia of the scalp, eyelashes and eyebrows. Sometimes hyperkeratosis with thorns (hystrix-like i.e. like porcupine quills). Possible lesions of the nails and teeth. Cerebellar and neuromuscular abnormalities are sometimes associated. Risk of liver cirrhosis in the recessive form.

Increased sensitivity to infections and  cutaneomucous cancers.

Anesthetic implications:

difficult peripheral venous access. Difficulties to secure catheters and tracheal as hyperkeratosis reduces the stickiness of the dressings. Risk of hypo - and hyperthermia. Check hepatic function in the recessive forms.

References : 

• Chiavérini C. 
  Ichtyoses génétiques. 
  Ann Dermatol Vénéréol 2009 ; 136 : 923-34.

Updated: February 2019