(epidermal nevus syndrome, Solomon syndrome, Solomon-Fretsin syndrome)
See also Jadassohn Nevus which is very close (less severe form ?)
Rare. Neurocutaneous syndrome. Sporadic. Caused by somatic mutations (mosaic) of the HRAS gene (11p15.5), the KRAS gene (12p12.1) or the NRAS gene (1p13.2).
Clinical features:
- a sebaceous nevus present from birth: 59 % at the level of the scalp, 32 % at the level of the face (Blascko lines)
- in children: yellow-orange to pink plate
- in adolescents: following hormonal stimulation of the sebaceous glands at puberty, appearance of epidermic papillomatous hyperplasia which covers the nevus
- later, in rare cases: benign or malignant tumours (basocellular epithelioma) at this level
- neurological abnormalities: epilepsy which begins in the first year of life (67 %) and is often resistant to treatment (West, Lennox-Gastau); structural abnormalities of the brain (72 %): Dandy-Walker syndrome, heterotopias, agenesis of the corpus callosum; mental retardation (61 %)
- ocular abnormalities (59 %): microphthalmia, coloboma, choristomas, epibulbar tumors
- cardiovascular abnormalities (12 %): patent ductus arteriosus, VSD, coarctation of the aorta, atrial fibrillation
- skeletal abnormalities: asymmetry (skull, limbs) ipsilateral to the nevus; scoliosis
- urological abnormalities (10 %): horseshoe kidney, vesicoureteral reflux
- hypophosphatemic vitamin D-resistant rickets
A sebaceous nevus is present in 1 to 3 infants on 1000: it is estimated that about 10 % of them develop extra-cutaneous signs.
Anesthetic implications:
ECG and echocardiography; epilepsy
References :
- Diaz JH.
Perioperative management of infants with the linear naevus sebaceous syndrome of Jadassohn: a report of two cases.
Paediatr Anaesth 2000; 10:669-73. - Castroviejo PI, Ruggieri M.
Schimmelpenning-Feuerstein-Mims, syndrome (nevus sebaceous syndrome).
In Neurocutaneous disorders, Phakomatoses and Hamartoneoplasic syndromes. Edité par Ruggieri M, Castroviejo P, Di Rocco C. Springer-Verlag, 2008, p 559-73 - Wang S-M, Hsieh Y-J, Chang K-M, Tsai H-L, Chen C-P.
Schimmelpenning syndrome: a case report and literature review.
Pediatrics & Neonatology 2014; 55: 487-90. - Bahloul E, Abid I, Masmoudi A, Makni S, Kamoun F, Boudawara T, Triki C, Turki H.
Le syndrome de Schimmelpenning-Feuerstein-Mims : à propos d’un cas.
Arch Pédiatr 2015 ; 22 :1157-62.
Updated: July 2018