Latest papers

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Phacomatosis spilorosea associated with lymphoedema.

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.

Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder.

Griscelli syndrome and electroencephalography pattern.

Three unusual neuropathologic-related causes of sudden death.

SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.

[Phacomatosis].

PHACES syndrome: from the brain to the face via the neural crest cells.

[Diagnostic image (362). A neonate with sternal malformation]

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara.

Wyburn-Mason syndrome.

Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman.

Metastatic peritoneal neurocutaneous melanocytosis.

Brain melanoma presented in a young child with neurocutaneous melanocytosis.

Phacomatosis pigmentokeratotica without extracutaneous abnormailities.

Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata".

Phacomatosis pigmentovascularis type Va in a 3-month old.

Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies.