|1.||Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)
|3.||X-Linked Dominant Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
|4.||von Hippel-Lindau Disease (von Hippel Lindau Disease)
|1.||Happle, Rudolf: 7 articles (07/2012 - 11/2003)|
|2.||Happle, R: 4 articles (11/2015 - 01/2001)|
|3.||Mayatepek, E: 3 articles (07/2001 - 02/2000)|
|4.||Willemsen, M A: 3 articles (07/2001 - 02/2000)|
|5.||Rotteveel, J J: 3 articles (07/2001 - 02/2000)|
|6.||Berrocal, Audina M: 2 articles (05/2015 - 03/2013)|
|7.||Hodapp, Elizabeth: 2 articles (05/2015 - 03/2013)|
|8.||Hess, Ditte J: 2 articles (05/2015 - 03/2013)|
|9.||Dobyns, William B: 2 articles (02/2013 - 12/2007)|
|10.||Castori, Marco: 2 articles (02/2012 - 02/2008)|
10/12/2006 - "This disease, which is also called Recklinghausen's disease, belongs to a group of diseases called phakomatosis. "
02/01/2001 - "Phaeochromocytomas are observed in patients suffering from Recklinghausen's disease (and other phacomatoses) in an above average incidence. "
01/01/1952 - "[Multiple localizations of phakomatosis with Recklinghausen's disease]."
01/01/1951 - "[Multiple localizations (eyes, cranial and spinal nerve, skin) of a phacomatosis related to Recklinghausen's disease]."
11/01/1986 - "After having reported the case of a pheochromocytoma associated to Recklinghausen's disease, the authors define the best criteria of detection and localization of the pheochromocytoma and study its association to phacomatoses. "
06/01/2014 - "Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by classical cutaneous and ocular lesions with central nervous system anomalies. "
05/01/2014 - "Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. "
06/30/2013 - "Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland's Syndrome, is a sporadically occurring neurocutaneous syndrome with no gender or race predilection. "
05/01/2013 - "Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. "
07/01/2011 - "Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. "
01/01/2012 - "Retinal manifestations of the phakomatoses."
06/01/1968 - "[An unusual case of retinal phacomatosis]."
11/01/2007 - "Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis."
05/01/2003 - "Retinal capillary angioma is a common ocular association of this congenital phakomatosis that may result in blinding sequelae, if not managed appropriately. "
07/01/2000 - "The presence of either retinal cavernous or choroidal hemangioma should alert the physician to search for features suggestive of systemic and familial involvement; either lesion may constitute the ocular component of the neuro-oculo-cutaneous phacomatosis, sometimes referred to as cavernoma multiplex. "
01/01/2015 - "Neurocutaneous melanosis is a rare neurocutaneous syndrome that is associated with a high rate of mortality early in life. "
06/01/2010 - "Neurocutaneous melanosis is a type of phakomatosis characterised by dermal, leptomeningeal and parenchymal melanocytic naevi. "
08/01/2008 - "Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. "
12/01/2004 - "These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis."
09/01/1999 - "Neurocutaneous melanosis (NCM) is a rare phakomatosis consisting of congenital abnormal pigmentation of the skin and meninges. "
|6.||Epidermal nevus syndromeIBA
02/01/1987 - "The epidermal nevus syndrome is a neurocutaneous disorder characterized by distinctive skin lesions and often serious somatic and central nervous system (CNS) abnormalities. "
06/01/2009 - "Epidermal nevus syndrome (ENS) is a neurocutaneous disorder characterized by epidermal hamartomas and abnormalities of the brain, eye, and other systems. "
01/01/2009 - "Epidermal nevus syndrome is a rare congenital sporadic neurocutaneous disorder characterized by an epidermal nevus and various developmental abnormalities of the skin, eyes, nervous, cardiovascular and urogenital systems. "
10/01/2008 - "Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. "
08/01/2007 - "Epidermal nevus syndrome is a group of congenital neurocutaneous disorders characterized by epidermal nevi in association with cerebral, ocular, skeletal, and sometimes cardiac and renal abnormalities. "
11/01/2008 - "Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). "
07/01/2006 - "Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder caused by mutation in the ALDH3A2 gene that codes for human fatty aldehyde dehydrogenase (FALDH). "
06/01/2006 - "Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. "
07/01/2001 - "Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). "
01/15/2001 - "The Sjögren-Larsson Syndrome (SLS) is a neurocutaneous disorder, caused by deficient activity of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). "
11/01/2015 - "Ten cases belonged to phacomatosis melanorosea, whereas several others were part of so far uncategorized cases of phacomatosis pigmentovascularis. "
07/01/2012 - "Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis."
12/01/2011 - "Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome?"
11/01/2007 - "Phacomatosis spilorosea (phacomatosis pigmentovascularis type IIIb)."
03/01/2006 - "This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. "
|9.||Wyburn Mason's syndromeIBA
11/01/2004 - "A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome."
01/01/1990 - "Wyburn-Mason syndrome is a neurocutaneous disorder which typically presents with unilateral vascular abnormalities involving the facial structures, orbits and brain. "
12/01/1983 - "Combined phakomatoses: a case report of Sturge-Weber and Wyburn-Mason syndrome occurring in the same individual."
03/01/2015 - "Wyburn-Mason syndrome is a rare phacomatosis characterized by unilateral arteriovenous malformations (AVMs) involving the brain, retina, and (rarely) the skin. "
07/01/2008 - "Wyburn-Mason syndrome is a very rare congenital neurocutaneous disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. "
|10.||Coarctation of the aortaIBA
01/01/2015 - "PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. "
11/01/2001 - "We suggest that these patients had an incomplete phenotypic expression of PHACES syndrome, a vascular phakomatosis characterised by the variable association of posterior fossa malformations, CH, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal and medioventral defects. "
01/01/2012 - ""PHACES" is a neurocutaneous syndrome that refers to the following associations: Posterior fossa malformations, Hemangiomas, Arterial malformations, Coarctation of the aorta/Cardiac defects, Eye abnormalities, and Sternal defects. "
06/01/2007 - "The acronym PHACES describes a rare neurocutaneous syndrome that comprises posterior fossa malformations, facial hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. "
04/01/2005 - "PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) is a rare neurocutaneous syndrome with only 2 case reports published in the ophthalmic literature. "
|1.||Transplantation (Transplant Recipients)
01/01/2011 - "Bilateral Temporal Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type IV Successfully Treated with Follicular Unit Transplantation."
01/01/1976 - "The author studied 189 patients with the main forms of phakomatosis (Louis-Barre syndrome, Sturge-Weber, Hippel-Lindau disease and Recklinghausens neurofibromatosis.) The use of pathogenetical treatment in the Louis-Barre syndrome (a transplantation of a neonatal thymus with the bone marrow) promoted an improvement in the clinico-immunological indices. "
|2.||Laser Therapy (Surgery, Laser)
11/01/2015 - "Gómez-López-Hernández syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. "
03/01/2015 - "Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. "
10/03/1997 - "Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. "
01/01/2009 - "Gomez-Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and cerebellar anomalies. "
05/01/2008 - "Except for cases with radiotherapy or phacomatosis, multiple primary brain tumors of different histologic types are rare. "
01/01/2010 - "To the authors' knowledge this is the first case report published identifying 2 distinct tumor types with similar radiological appearances in a pediatric patient with no prior history of radiotherapy, chemotherapy, or phacomatosis."
01/01/2010 - "Simultaneous primary brain tumors in pediatric patients without prior chemotherapy or radiotherapy, phacomatosis, or known familial history are a rare occurrence. "