New case of phacomatosis cesio‐flammeo‐marmorata: the time is right to review the classification for phacomatosis pigmentovascularis

2019 ◽  
Vol 58 (12) ◽  
Author(s):  
Ahmed S. Chehad
Keyword(s):  
Phacomatosis Pigmentovascularis

Two Reports of Phacomatosis Pigmentovascularis Type Iib, One in Association with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

2010 ◽  
Vol 27 (3) ◽  
pp. 303-305 ◽  
Author(s):  
Lindsey B. Finklea ◽  
Melinda R. Mohr ◽  
Molly M. Warthan ◽  
David H. Darrow ◽  
Judith V. Williams
Keyword(s):  
Phacomatosis Pigmentovascularis ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

Cutis Tricolor

2018 ◽  
Vol 16 (05) ◽  
pp. 276-281
Author(s):  
Martino Ruggieri ◽  
Agata Polizzi ◽  
Selene Mantegna ◽  
Chiara Battaglini ◽  
Concetta Pirrone ◽  
...  
Keyword(s):  
Normal Skin ◽  
Distinct Type ◽  
Skin Lesions ◽  
Nasal Bridge ◽  
Phacomatosis Pigmentovascularis ◽  
Skeletal Defects ◽  
Skin Abnormalities ◽  
Vertebral Defects ◽  
Postzygotic Mutations ◽  
Over Time

AbstractCutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches, or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon. This phenomenon has been reported so far as a purely cutaneous trait, as a part of a complex malformation phenotype (Ruggieri–Happle syndrome), which includes distinct facial features, cataract, skull and vertebral defects, long bones dysplasia, corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly, and other systemic abnormalities. Cutis tricolor has been also reported as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) or in association with other skin disturbances (e.g., phacomatosis achromico-melano-marmorata) or in the context of other neurocutaneous phenotypes (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis) or as a sign of complex malformation phenotypes (e.g., microcephaly and dwarfism). More than 20 studies reporting 40 cases are present in the literature with pure cutaneous or syndromic cutis tricolor phenomena and are analyzed in the present study, confirming and expanding the overall phenotype of cutis tricolor. In particular, (1) the skin abnormalities of the cutis tricolor do not evolve over time; (2) there is a typical facial phenotype with long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose, and anteverted nostrils; (3) the skeletal defects are mild-to-moderate and do not progress or cause relevant orthopedic complications; (4) the neurological/behavioral phenotype does not progress and the paroxysmal events (if present) tend to decrease over time; (5) only three patients developed early onset (treatable) cataracts. Different pathologic hypotheses have been postulated, including, early or late postzygotic mutations involving the same gene loci (in the context of the so-called dydymotic theory): such mechanisms can explain the overall skin, bone, lens, and nervous system phenomena of migration of different streaks of clones in the different tissues.

scholarly journals Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins

2018 ◽  
Vol 12 (2) ◽  
pp. 94-98 ◽  
Author(s):  
Kirti Singh ◽  
Ankush Mutreja ◽  
Mainak Bhattacharyya ◽  
Sonal Dangda ◽  
Kirti Jaisingh
Keyword(s):  
Varicose Veins ◽  
Young Male ◽  
Phacomatosis Pigmentovascularis ◽  
Developmental Glaucoma

scholarly journals Phacomatosis pigmentovascularis: Report of four new cases

2016 ◽  
Vol 82 (3) ◽  
pp. 298 ◽  
Author(s):  
Arti Nanda ◽  
HamadK Al-Abdulrazzaq ◽  
YousifK. R Habeeb ◽  
Mohamed Zakkiriah ◽  
Faisal Alghadhfan ◽  
...  
Keyword(s):  
Phacomatosis Pigmentovascularis

Phacomatosis Pigmentovascularis is Not a Twin-Spot Phenomenon

2019 ◽  
pp. 1
Author(s):  
Johann de Wet ◽  
Henry F. Jordaan ◽  
Willem I. Visser ◽  
Rudolf Happle
Keyword(s):  
Phacomatosis Pigmentovascularis

Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea

2013 ◽  
Vol 48 (3) ◽  
pp. e41-e42 ◽  
Author(s):  
Hatem Krema ◽  
Rand Simpson ◽  
Hugh McGowan
Keyword(s):  
Choroidal Melanoma ◽  
Phacomatosis Pigmentovascularis

Glaucoma in Phacomatosis Pigmentovascularis in a Young African Adolescent Boy

2019 ◽  
Vol 28 (7) ◽  
pp. e124-e125
Author(s):  
Ernst B. van der Merwe ◽  
Raquel E. Bhika ◽  
David Meyer
Keyword(s):  
Phacomatosis Pigmentovascularis

Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis

2014 ◽  
Vol 25 (7) ◽  
pp. 783-785
Author(s):  
Hyppolite K. Tchidjou ◽  
Marina Macchiaiolo ◽  
Paola Ariganello ◽  
Francesca Calò Carducci ◽  
Rita De Vito ◽  
...  
Keyword(s):  
Phacomatosis Pigmentovascularis
Sign in / Sign up

Export Citation Format

Share Document