[MIM 129 490, 224 900, 300 291, 305 100, 612132 ]

(Ectodermal - ectodermic -  anhidrotic dysplasia, Christ-Siemens-Touraine syndrome) 

Very rare. Congenital dermatosis with abnormal development of tissue of ectodermal origin: abnormalities of hair, teeth or sweat glands. It is caused by mutations of the genes involved in the ectodysplasine/NF-kappa B pathway that plays a critical role in the development of the ectodermal structures. Three subtypes according to the type of transmission :

- X-linked (85%) : mutation of the EDA gene (Xq12-q13.1) coding for ectodysplasine-A

- autosomal dominant : mutation of the EDARADD gene (1q42.3) coding for the adapting protein associated with the ectodysplasine-A receptor.

- autosomal recessive : mutation of the EDAR gene (2q13) coding for the ectodysplasine-A receptor.

A fourth very rare subtype is associated with immunodeficiency : mutation of the IBKG gene (Xq28). Mutations of the WNT10A, TRAF6, NFKBIA ou EDA2R genes can also be produce ectodermal anhidrotic dysplasia.

Classic triad:

• sparse, thin, poorly pigmented hair (atrichosis, hypotrichosis) ;  absent or sparse eyebrows and eyelashes
• dental anomalies : either absent (hypodontia or anodontia) or abnormal (conic)
• absent or reduced sweating due to the absence of sweat glands : intolerance to heat, frequent high fever

In addition :

• fine, dry, eczematous skin with zones of hyperkeratosis
• dry eyes, chronic conjunctivitis, and the patients complain of dryness in the nasopharynx and of asthma-like symptoms.
• dysmorphism  : prominent forehead, micrognathia, saddle nose, periorbital hyperpigmentation, infraorbital wrinkles
• frequent growth delay.

The woman carrying the mutation in the X-linked forms  are either asymptomatic or present with a milder phenotype that may include oligodontia, conic teeth, hypotrichosis and mild hypohidrosis.

A few cases of association with multicore or minicore myopathy (se this term) have been observed.

Anesthetic implications:        

Preoperative CK level ; risk of difficult intubation. Careful monitoring of temperature (risk of hypo- or hyperthermia). Avoid nasal intubation (risk of epistaxis). Eye protection (often absence of tears). In case of suspected myopathy: preoperative echocardiography and avoidance of the agents susceptible to trigger rhabdomyolysis or malignant hyperthermia

References : 

-        Gordon CP, Litz S.
Multicore myopathy in a patient with anhidrotic ectodermal dysplasia.
Can J Anaesth 1992 ; 39 : 966-8.

-        Docquier MA, Veyckemans F, Prudhomme S, Rossillon R. 
Anesthésie d'une enfant présentant une dysplasie anhydrotique ectodermique associée à une myopathie multicore. 
Can J Anaesth 2000; 47:449-53. 

-        Ishii H, Watanabe K, Kobayashi C, Maruyama M, Baba H.
Nasotracheal intubation, epistaxis and atelectasis in a patient with anhidrotic ectodermal dysplasia.
Can J Anaesth 2004; 51: 96-7.

-        Ahiskalioglu EO, Ahiskalioglu O, Firinci B, Dostbil A, Aksoy M.
Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery.
Rev Bras Anestesiol 2015; 65: 522-4.

-        Nanegrungsunk D, Jericho BG.
Oral surgery with nasotracheal intubation in a patient with ectodermal dysplasia.
Anaesthesia Reports 2020; 8: 90-3.

Updated: February 2022