Goltz, syndrome

(Focal dermal hypoplasia, Goltz-Gorlin syndrome)

Not to be confused with Gorlin or Gorlin-Goltz syndrome

Rare: frequency estimated to be 2/100,000 newborns. Sporadic or autosomal dominant transmission linked to a mutation in the PORCN gene on Xp-11.23 (80% of patients are female).

Clinical manifestations:

- skin abnormalities: skin appendages, stripped hypoplasia of the dermis; with atrophy and pigmentation (telangiectasia) of the overlying skin and hernia of the subcutaneous fat (yellowish or reddish nodules that follow the lines of Blascko); palmar hyperkeratosis, nail dystrophy

- skeletal abnormalities are present in 60 % of cases: syndactyly, kyphoscoliosis, spina bifida occulta, aplasia or hypoplasia of a clavicle, short stature; longitudinal striation of the long bones (osteopathia striata)

- ocular anomalies: coloboma (30 % of cases), microphthalmia, strabismus

- high arched palate

- microdontia, hypoplasia of the dental enamel, gastro-esophageal reflux

There is a risk of cellular hypertrophy at the level of the mucocutaneous periorificial junctions: gums, eyes, mucosae, anal and vaginal mucosae with an accumulation of fatty tissue that takes the appearance of papillomas. Frequent mental retardation.

Anesthetic implications:

check the presence of oropharyngeal and laryngeal papillomatosis: if there are such lesions, major risk of difficult intubation; difficult peripheral venous access; risk of hypothermia; fragile skin.

References :

Holzman RS.
Airway involvement and anesthetic management in Goltz’s syndrome.
J Clin Anesth 1991; 3: 422-5.

Martinez MA, Mayhew JF.
Anesthesia for a child with Goltz syndrome.
J Clin Anesth 2011; 23: 257-8.
Ezri T, Szmuk P, Soroker D.
Anaesthesia for Goltz-Gorlin syndrome.
Anaesthesia 1994; 49:833.
Rhee KY, Baek RM, Ahn KJ.
Airway management in a patient with Focal Dermal Hypoplasia.
Anesth Analg 2006; 103: 1342.

Updated: April 2019