[MIM 600 268]

(oculoectodermal syndrome, congenital skin aplasia-epibulbar dermoid syndrome)

Rare: 1/106. Mosaic mutations of the KRAS gene (12p12.1) which is a protooncogen. Sometimes considered as a variant of encephalo-cranio-skin lipomatosis (see Haberland syndrome).

Highly variable clinical presentation that most often includes:

• congenital skin aplasia: congenital absence of a variable-sized part of the epidermis and derma,  usually on the skull (see aplasia cutis congenita)
• eye abnormalities: epibulbar desmoid tumors, palpebral coloboma, epicanthus, corneal opacity, strabismus, microcornea

and sometimes:

• macrocephaly
• delayed growth or body hemihyperrophy
• facial dysmorphism: facial asymmetry, giant cell tumor of the jaw, prominent frontal and parietal bossing
• skin hyperpigmentation or epidermal naevus that follows Blaschko's lines
• short neck
• cardiac abnormalities: persistent ductus arteriosus, coarctation of the aorta, ASD, hypertrophic cardiomyopathy
• vascular abnormalities: Moyamoya disease (see this term), transient ischemic attacks
• supernumerary nipples
• bladder exstrophy
• lower limb asymmetry, lymphedema
• non-ossifying fibroids tumors of the long bones
• neurological problems: arachnoid cyst, epilepsy, developmental delay, learning difficulties, mild behavioral disorders.
• increased risk of developing tumors?

Anesthetic implications:

depending on the affected organs; echocardiography if this examination has never been performed before; avoid hyper- and hypoventilation as in cases of Moyamoya syndrome.

Reference:

-        Lees M, Taylor D, Atherton  D, Reardon W. 
Oculo-ectodermal syndrome: report of two further cases. 
Am J Med Genet 2000 ; 91: 391-5.

Updated: March 2021