The intention of this review on nevus comedonicus (NC) is to update on clinical features, pathogenesis, and therapy. NC is a rare epidermal nevus type. It is part of the nevus comedonicus syndrome, a neurocutaneous disorder with ocular, skeletal, and central nervous symptoms. Recently, acne-related signaling pathways and somatic mutations of tyrosine kinase receptors have been identified and ma...

Neurofibromatosis is an inherited disease, having a predilection for tumour formation. These diseases were previously referred to as “phakomatoses” or neurocutaneous syndromes. The clinical spectrum of these diseases usually involves the nervous, locomotor and cutaneous systems. However the involvement of the nervous system is very dangerous, and is often the leading cause of mortality in this ...

Corresponding Author: B. Basiri MD Tel: +98 9188121848 Email: [email protected] Abstract Objective Incontinentia Pigmenti (IP) (Bloch_Sulzberg syndrome) is a rare neurocutaneous syndrome characterized by multisystemic involvement that is prenatally lethal in the majority of affected males and shows great clinical variability when expressed in women. The diagnosis of IP is performed based o...

Fanling Integrated Treatment Centre, 6/F, Fanling Health Centre, 2 Pik Fung Road, Fanling, New Territories Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in mul...

Corresponding Author: B. Basiri MD Tel: +98 9188121848 Email: [email protected] Abstract Objective Incontinentia Pigmenti (IP) (Bloch_Sulzberg syndrome) is a rare neurocutaneous syndrome characterized by multisystemic involvement that is prenatally lethal in the majority of affected males and shows great clinical variability when expressed in women. The diagnosis of IP is performed based o...

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral scalp, facial, and ocular lesions and ipsilateral cerebral malformations. To define the neuroimaging features of this disorder we studied two patients affected by ECCL and compared our data with those reported in the literature. Sonographic, CT, and MR imaging examinations showed quite spec...

Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, a...

Neurofibromas are benign peripheral nerve sheath tumors that occur commonly in individuals with neurocutaneous disorders such as neurofibromatosis type 1. Vagal nerve neurofibromas, however, are a relatively rare occurrence. We present the case of a 22-year-old man with neurofibromatosis type 1 with a neurofibroma of the left cervical vagal nerve. The mass was resected through an anterior appro...

Incontinentia pigmenti is a rare neurocutaneous disorder that may present with neurologic symptoms, in addition to a characteristic vesicular rash within the first days of life. We describe a neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti. Cerebral MR imagi...

PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...