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Journal articles on the topic 'Phakomatos'

Author: Grafiati

Published: 28 May 2022

Last updated: 31 July 2025

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1

Senthilkumar, Vijayalakshmi A., Piyush Kohli, Chitaranjan Mishra, and Kavitha Mamchisetti. "Ocular features in a patient presenting with a rare combination of multiple phakomatoses." BMJ Case Reports 15, no. 11 (2022): e252746. http://dx.doi.org/10.1136/bcr-2022-252746.

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Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS

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2

Abdolrahimzadeh, Solmaz, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, and Santi Maria Recupero. "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?" BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/786519.

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The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome,

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3

Abdolrahimzadeh, Solmaz, Valeria Fameli, Roberto Mollo, Maria Teresa Contestabile, Andrea Perdicchi, and Santi Maria Recupero. "Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management." BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/781294.

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Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridoc

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4

Tsotsonava, Zhuzhuna M., Vladimir V. Belopasov, and Natal’ya V. Tkacheva. "Neoplastic potential for malformations of the development of ecto- and mesodermal structures." L.O. Badalyan Neurological Journal 1, no. 4 (2020): 208–16. http://dx.doi.org/10.17816/2686-8997-2020-1-4-208-216.

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Introduction.Malformations of ecto- and mesodermal structures represent various forms of abnormality of intrauterine systemic and local morphogenesis, arising at different times of embryonic development due to environmental factors, genomic, chromosomal or gene mutations. Dysregulation of cellular functions due to mutations and accumulation of defective proteins initiates tumor transformation of tissues e.g. hereditary diseases of ectomesodermal origin phakomatosis (hamartomatosis). The aim of the studywas to determine organ specificity, clinical manifestations, morphological features an

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5

Blenc, Ann Marie, José A. Gómez, Min W. Lee, Frank X. Torres, and James S. Linder. "Phakomatous Choristoma." American Journal of Dermatopathology 22, no. 1 (2000): 55–59. http://dx.doi.org/10.1097/00000372-200002000-00011.

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6

Heo, Seo Yoon, Haeng-Jin Lee, Myoung Ja Chung, and Min Ahn. "Phakomatous Choristoma of the Orbit with Inferior Oblique Muscle Involvement." Journal of the Korean Ophthalmological Society 62, no. 9 (2021): 1287–91. http://dx.doi.org/10.3341/jkos.2021.62.9.1287.

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Purpose: We report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. Case summary: A 2-month-old male infant presented to our clinic with a right orbital mass that had been present since birth. Magnetic resonance imaging demonstrated a homogenous enhanced well-defined mass located in the inferomedial portion of the right orbit without bone erosion. By transconjunctival orbitotomy, the orbital tumor invading the inferior oblique muscle was identified and resected. Histopathology showed a thick basement membrane surrounding pseudogla

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7

Rafizadeh, Seyed Mohsen, Hadi Ghadimi, and Zohreh Nozarian. "Phakomatous Choristoma of the Eyelid and Orbit: A Case Report." Pediatric and Developmental Pathology 23, no. 4 (2019): 296–300. http://dx.doi.org/10.1177/1093526619882136.

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Phakomatous choristoma was first described as a distinct pathologic entity by Zimmerman in 1971. Report of only 26 cases of this tumor so far is an indicator of the rarity of phakomatous choristoma. We present a 4-month-old infant with an orbital mass beneath the right lower eyelid. Surgical excision was undertaken and the histopathologic findings of a dense fibrocollagenous stroma containing small to medium size islands and glandular-like structures surrounded by thick basement membrane and filled by amorphous eosinophilic material confirmed the diagnosis. Immunohistochemical study showed pos

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8

Mencía-Gutiérrez, E., E. Gutiérrez-Díaz, J. R. Ricoy, and B. Sarmiento-Torres. "Eyelid Phakomatous Choristoma." European Journal of Ophthalmology 13, no. 5 (2003): 482–85. http://dx.doi.org/10.1177/112067210301300510.

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Purpose To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis. Case A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised. Results The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with thos

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9

Reith, W. "Phakomatosen." Der Radiologe 53, no. 12 (2013): 1075–76. http://dx.doi.org/10.1007/s00117-013-2532-3.

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10

Becker, Benjamin, and Roy E. Strowd. "Phakomatoses." Dermatologic Clinics 37, no. 4 (2019): 583–606. http://dx.doi.org/10.1016/j.det.2019.05.015.

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11

Ott, H., L. Lassay, M. Hütten, M. Megahed, H. F. Merk, and J. M. Baron. "Phakomatosis pigmentovascularis Typ II a (Phakomatosis cesioflammea)." Der Hautarzt 57, no. 5 (2006): 439–40. http://dx.doi.org/10.1007/s00105-006-1142-7.

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12

Ellis, Forrest J., Ralph C. Eagle, Jerry A. Shields, Carol L. Shields, James N. Fessler, and Larry J. Takemoto. "Phakomatous Choristoma (Zimmerman's tumor)." Ophthalmology 100, no. 6 (1993): 955–60. http://dx.doi.org/10.1016/s0161-6420(93)31573-3.

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13

Tran, Charlene, and Wallace L. M. Alward. "Phakomatosis Pigmentovascularis." Ophthalmology Glaucoma 4, no. 3 (2021): 250. http://dx.doi.org/10.1016/j.ogla.2021.03.003.

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14

BECK, ROY W., and RUTH HANNO. "The Phakomatoses." International Ophthalmology Clinics 25, no. 1 (1985): 97–116. http://dx.doi.org/10.1097/00004397-198502510-00007.

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15

Kubo, Akiharu, and Daisuke Yamada. "Phakomatosis Pigmentokeratotica." New England Journal of Medicine 381, no. 15 (2019): 1458. http://dx.doi.org/10.1056/nejmicm1817155.

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16

Korf, Bruce R. "The phakomatoses." Neuroimaging Clinics of North America 14, no. 2 (2004): 139–48. http://dx.doi.org/10.1016/j.nic.2004.03.008.

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17

Van Gysel, Dirk, Arnold P. Oranje, Hans Stroink, and Huibert J. Simonsz. "Phakomatosis Pigmentovascularis." Pediatric Dermatology 13, no. 1 (1996): 33–35. http://dx.doi.org/10.1111/j.1525-1470.1996.tb01184.x.

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18

Gysel, Dirk Van, Arnold P. Oranje, Hans Stroink, and Huibert J. Simonsz. "Phakomatosis Pigmentovascularis." Pediatrics International 13, no. 1 (1996): 33–35. http://dx.doi.org/10.1111/j.1442-200x.1996.tb02844.x.

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19

Korf, Bruce R. "The phakomatoses." Clinics in Dermatology 23, no. 1 (2005): 78–84. http://dx.doi.org/10.1016/j.clindermatol.2004.09.007.

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20

Oh, Chang Keun, Doo Chan Moon, Kyung Sool Kwon, and Tae Ahn Chung. "Phakomatosis Pigmentovascularis." Annals of Dermatology 4, no. 2 (1992): 103. http://dx.doi.org/10.5021/ad.1992.4.2.103.

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21

Bilaniuk, T. "The Phakomatoses." Rivista di Neuroradiologia 5, no. 1_suppl (1992): 141–42. http://dx.doi.org/10.1177/19714009920050s127.

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22

Bernhard, M. K., A. Bertsche, W. Hirsch, A. Merkenschlager, and S. Syrbe. "Die klassischen Phakomatosen." Kinder- und Jugendmedizin 12, no. 06 (2012): 376–81. http://dx.doi.org/10.1055/s-0038-1629309.

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ZusammenfassungKinder mit Phakomatosen bzw. neurokutanen Syndromen bedürfen aufgrund vielfältiger Organmanifestationen sowie assoziierter Entwicklungsstörungen einer komplexen Betreuung. Neben einer kurzen Übersichtsdarstellung der wichtigsten klinischen Merkmale der klassischen Phakomatosen (Neurofibromatose Typ 1, tuberöse Sklerose, von HippelLindau-Erkrankung, Sturge-Weber-KrabbeSyndrom und Gorlin-Goltz-Syndrom) geht der vorliegende Artikel auf aktuelle pathophysiologische und therapeutische Aspekte ein.

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23

Shin, H. M., H. G. Song, and M. Y. Choi. "Phakomatous choristoma of the eyelid." Korean Journal of Ophthalmology 13, no. 2 (1999): 133. http://dx.doi.org/10.3341/kjo.1999.13.2.133.

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24

Peres, Luiz Cesar, Alfredo Ribeiro da Silva, Angela Delete Belluci, and Antonio A. V. Cruz. "Phakomatous choristoma of the orbit." Orbit 17, no. 1 (1998): 47–53. http://dx.doi.org/10.1076/orbi.17.1.47.7948.

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25

Rosenbaum, Pearl S., Yvonne Kress, Thomas L. Slamovits, and Ramon L. Font. "Phakomatous Choristoma of the Eyelid." Ophthalmology 99, no. 12 (1992): 1779–84. http://dx.doi.org/10.1016/s0161-6420(92)31733-6.

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26

Leatherbarrow, B., J. A. Nerad, K. D. Carter, J. Peter, and J. Spencer. "Phakomatous Choristoma of the Orbit." Ophthalmic Plastic & Reconstructive Surgery 9, no. 3 (1993): 219. http://dx.doi.org/10.1097/00002341-199309000-00017.

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27

Dithmar, Stefan, Ingo Schmack, Hans E. Völcker, and Hans E. Grossniklaus. "Phakomatous choristoma of the eyelid." Graefe's Archive for Clinical and Experimental Ophthalmology 242, no. 1 (2003): 40–43. http://dx.doi.org/10.1007/s00417-003-0743-4.

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28

Hammoud, Dima A., and Elias R. Melhem. "Imaging of Phakomatoses." Contemporary Diagnostic Radiology 24, no. 21 (2001): 1–9. http://dx.doi.org/10.1097/00219246-200124210-00001.

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29

BECHRAKIS, NE. "Diagnostic of phakomatosis." Acta Ophthalmologica 89, s248 (2011): 0. http://dx.doi.org/10.1111/j.1755-3768.2011.1266.x.

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30

Edelstein, Simon, Thomas P. Naidich, and T. Hans Newton. "The rare phakomatoses." Neuroimaging Clinics of North America 14, no. 2 (2004): 185–217. http://dx.doi.org/10.1016/j.nic.2004.03.012.

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31

Lin, Doris D. M., and Peter B. Barker. "Neuroimaging of Phakomatoses." Seminars in Pediatric Neurology 13, no. 1 (2006): 48–62. http://dx.doi.org/10.1016/j.spen.2006.01.011.

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32

BECHRAKIS, NE. "Diagnosis of phakomatosis." Acta Ophthalmologica 88 (September 2010): 0. http://dx.doi.org/10.1111/j.1755-3768.2010.1256.x.

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33

Sarkar, Shatanik, Chaitali Patra, Chandrasekhar Dey, Malay Kumar Dasgupta, and Tapan Kumar Kundu. "Sturge Weber Syndrome Overlapping with Klippel Trenaunay Syndrome." Journal of Nepal Paediatric Society 33, no. 2 (2013): 147–49. http://dx.doi.org/10.3126/jnps.v33i2.7704.

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Sturge Weber syndrome (SWS) is a mesodermal phakomatosis characterized by meningo-facial angiomas with cerebral calcification. Klippel Trenaunay syndrome (KTS) is another very rare type of phakomatosis with cutaneous angiomas, varicose veins and enlargement of soft tissue or bones. Overlap between SWS & KTS is very rarely encountered. We report a three and half year old girl with overlapping features of both SWS and KTS. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7704 J Nepal Paediatr Soc. 2013; 33(2):147-149

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34

Shimizu, Nami, Koichi Nakagawa, Mari Taguchi, et al. "Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita." Journal of Dermatology 42, no. 10 (2015): 1006–7. http://dx.doi.org/10.1111/1346-8138.13000.

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35

Pandit, Vishalakshi S., and Y. R. Rakesh. "A Baby with Café-au-lait Macules and Aberrant Mongolian Spot: Report of Phakomatosis Pigmentopigmentaria." Clinical Dermatology Review 8, no. 3 (2024): 253–55. http://dx.doi.org/10.4103/cdr.cdr_91_23.

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Abstract Phacomatosis pigmentovascularis (PPV) is a term used to describe the association of vascular nevi with different pigmentary nevi. There are a very few case reports describing the association of two pigmented nevi or pigmented anomalies of nevoid character. The pathogenetic mechanism of such association is hypothesized to be twin spotting. Wolf at al has coined the term phakomatosis pigmentopigmentaria for describing the association different pigmenatry nevi or nevoid disorders. We report a rare case of baby born with co-localized segmental CALMs with aberrant Mongolian spots on the tr

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36

Gupta, Swati, MSarthak Swarup, Sapna Singh, Anjali Prakash, Anurag Mehndiratta, and Anju Garg. "Phakomatoses: A pictorial review." Indian Journal of Radiology and Imaging 30, no. 2 (2020): 195. http://dx.doi.org/10.4103/ijri.ijri_497_19.

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37

Woodward, Lee M. "Ocular Manifestations of Phakomatoses." International Ophthalmology Clinics 54, no. 3 (2014): 105–10. http://dx.doi.org/10.1097/iio.0000000000000037.

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38

Teekhasaenee, Chaiwat, and Robert Ritch. "Glaucoma in Phakomatosis Pigmentovascularis." Ophthalmology 104, no. 1 (1997): 150–57. http://dx.doi.org/10.1016/s0161-6420(97)30346-7.

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39

Mandt, Nathalie, Ulrike Blume-Peytavi, Christine Pfrommer, Sven Krengel, and Sergij Goerdt. "Phakomatosis pigmentovascularis type IIa." Journal of the American Academy of Dermatology 40, no. 2 (1999): 318–21. http://dx.doi.org/10.1016/s0190-9622(99)70475-5.

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40

Yilmaz, Umut. "ZNS-Manifestationen der Phakomatosen." Der Radiologe 58, no. 7 (2018): 664–67. http://dx.doi.org/10.1007/s00117-018-0413-5.

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41

Wang, Bing, Modi Yang, Sha Lv, et al. "Phakomatosis pigmentovascularis type IIb." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 17, no. 11 (2019): 1179–82. http://dx.doi.org/10.1111/ddg.13980.

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42

Wang, Bing, Modi Yang, Sha Lv, et al. "Phakomatosis pigmentovascularis Typ IIb." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 17, no. 11 (2019): 1179–82. http://dx.doi.org/10.1111/ddg.13980_g.

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43

Libow, Lester F. "Phakomatosis pigmentovascularis type IIIb." Journal of the American Academy of Dermatology 29, no. 2 (1993): 305–7. http://dx.doi.org/10.1016/0190-9622(93)70181-r.

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44

Hasegawa, Y. "Phakomatosis pigmentovascularis type IVa." Archives of Dermatology 121, no. 5 (1985): 651–55. http://dx.doi.org/10.1001/archderm.121.5.651.

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45

Hasegawa, Yoshihiro. "Phakomatosis Pigmentovascularis Type IVa." Archives of Dermatology 121, no. 5 (1985): 651. http://dx.doi.org/10.1001/archderm.1985.01660050103025.

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46

Pillai, Manju, Shreya Jain, and Sameer Chaudhary. "Phakomatosis Ceisoflammea with glaucoma." Indian Journal of Ophthalmology - Case Reports 4, no. 2 (2024): 570–71. http://dx.doi.org/10.4103/ijo.ijo_2331_23.

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47

Ruiz Villaverde, R., A. Viera Ramirez, J. Linares Solano, R. Naranjo Sintes, and MT Gutierrez Salmeron. "Phakomatosis pigmentovascularis and Lisch nodules. Relationship between Von Recklinghausen and phakomatosis pigmentovascularis?" Journal of the European Academy of Dermatology and Venereology 17, no. 1 (2003): 53–55. http://dx.doi.org/10.1046/j.1468-3083.2003.00632.x.

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48

Sukhonosova, O. Yu, O. L. Tondiy, and S. M. Korenev. "Hereditary neuro-skin syndromes (phacomatosis) — literature review." Shidnoevropejskij zurnal vnutrisnoi ta simejnoi medicini 2024, no. 2 (2024): 126–38. http://dx.doi.org/10.15407/internalmed2024.02.126.

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49

KAMADA, Y., A. SAKATA, S. NAKADOMARI, and M. TAKEHANA. "Phakomatous choristoma of the eyelid: Immunohistochemical observation." Japanese Journal of Ophthalmology 42, no. 1 (1998): 41–45. http://dx.doi.org/10.1016/s0021-5155(97)00101-9.

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50

Otto, Josephin, Ina Sorge, Lars-Christian Horn, and Ina Sterker. "Magnetic resonance imaging of a phakomatous choristoma." Pediatric Radiology 45, no. 11 (2015): 1712–15. http://dx.doi.org/10.1007/s00247-015-3376-y.

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